#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
SDK1	221935	hgsc.bcm.edu	37	7	4213858	4213858	+	Missense_Mutation	SNP	C	C	T	rs539173474		TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr7:4213858C>T	ENST00000404826.2	+	33	4944	c.4805C>T	c.(4804-4806)cCg>cTg	p.P1602L	SDK1_ENST00000389531.3_Missense_Mutation_p.P1602L	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1602	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TTGCAGCCTCCGAGGGACGAA	0.577													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19396	0.0		0.0	False		,,,				2504	0.0																0			7											204.0	196.0	198.0					7																	4213858		2203	4300	6503	4180384	SO:0001583	missense	221935			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.4805C>T	7.37:g.4213858C>T	ENSP00000385899:p.Pro1602Leu		4180384	Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	C	9.521	1.108287	0.20714	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.74315	-0.83;-0.83	4.74	4.74	0.60224	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	D	0.84238	0.5428	M	0.84219	2.685	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.958;0.998;0.974	T	0.82621	-0.0367	10	0.02654	T	1	.	15.9147	0.79503	0.0:1.0:0.0:0.0	.	1602;89;1602	F8W6X9;F2Z3E9;Q7Z5N4	.;.;SDK1_HUMAN	L	1602	ENSP00000385899:P1602L;ENSP00000374182:P1602L	ENSP00000374182:P1602L	P	+	2	0	SDK1	4180384	0.998000	0.40836	0.823000	0.32752	0.803000	0.45373	5.334000	0.65923	2.181000	0.69327	0.462000	0.41574	CCG		0.577	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744	
SEMA3D	223117	hgsc.bcm.edu	37	7	84651728	84651728	+	Missense_Mutation	SNP	C	C	T	rs202240375		TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr7:84651728C>T	ENST00000284136.6	-	11	1436	c.1393G>A	c.(1393-1395)Gat>Aat	p.D465N	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	465	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						AACATTACATCGTACTGGCCA	0.363																																					Ovarian(63;442 1191 17318 29975 31528)												0			7											223.0	200.0	208.0					7																	84651728		2203	4300	6503	84489664	SO:0001583	missense	223117			BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.1393G>A	7.37:g.84651728C>T	ENSP00000284136:p.Asp465Asn		84489664	A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	C	31	5.087733	0.94100	.	.	ENSG00000153993	ENST00000284136	T	0.24151	1.87	5.67	5.67	0.87782	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.135696	0.64402	D	0.000003	T	0.50616	0.1626	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	P	0.62491	0.903	T	0.48864	-0.8997	10	0.59425	D	0.04	.	19.7762	0.96393	0.0:1.0:0.0:0.0	.	465	O95025	SEM3D_HUMAN	N	465	ENSP00000284136:D465N	ENSP00000284136:D465N	D	-	1	0	SEMA3D	84489664	1.000000	0.71417	0.859000	0.33776	0.801000	0.45260	4.842000	0.62831	2.664000	0.90586	0.557000	0.71058	GAT		0.363	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754	
CPA1	1357	hgsc.bcm.edu	37	7	130023569	130023569	+	Silent	SNP	C	C	T	rs377138792		TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr7:130023569C>T	ENST00000011292.3	+	6	780	c.630C>T	c.(628-630)ctC>ctT	p.L210L	CPA1_ENST00000484324.1_Silent_p.L122L	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	210					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.L210L(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					CCGCCATTCTCGACACCTTGG	0.607																																																	1	Substitution - coding silent(1)	ovary(1)	7						C		0,4406		0,0,2203	187.0	158.0	168.0		630	-9.0	0.0	7		168	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CPA1	NM_001868.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		210/420	130023569	1,13005	2203	4300	6503	129810805	SO:0001819	synonymous_variant	1357				CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase A"""	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.630C>T	7.37:g.130023569C>T			129810805	A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Silent	SNP	ENST00000011292.3	37	CCDS5820.1																																																																																				0.607	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349736.2	NM_001868	
BRAF	673	hgsc.bcm.edu	37	7	140453193	140453193	+	Splice_Site	SNP	T	T	C	rs121913370		TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr7:140453193T>C	ENST00000288602.6	-	15	1802	c.1742A>G	c.(1741-1743)aAt>aGt	p.N581S		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	581	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		N -> D (in CFC1). {ECO:0000269|PubMed:16439621, ECO:0000269|PubMed:16474404, ECO:0000269|PubMed:18042262}.|N -> S (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.N581S(9)|p.N581I(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	AAGAAATATATCTGAGGTGTA	0.358		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)			Dom	yes		7	7q34	673	v-raf murine sarcoma viral oncogene homolog B1	yes	E	10	Substitution - Missense(10)	large_intestine(3)|lung(3)|skin(2)|ovary(1)|soft_tissue(1)	7											86.0	83.0	84.0					7																	140453193		2203	4298	6501	140099662	SO:0001630	splice_region_variant	673	Familial Cancer Database	CFC, CFCS	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1742-1A>G	7.37:g.140453193T>C			140099662	A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.68|17.68	3.450518|3.450518	0.63290|0.63290	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000496384|ENST00000288602	.|D	.|0.99803	.|-6.82	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99864|0.99864	0.9936|0.9936	H|H	0.96970|0.96970	3.915|3.915	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	D|D	0.96655|0.96655	0.9484|0.9484	5|10	.|0.59425	.|D	.|0.04	.|.	15.9326|15.9326	0.79675|0.79675	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|581	.|P15056	.|BRAF_HUMAN	V|S	189|581	.|ENSP00000288602:N581S	.|ENSP00000288602:N581S	I|N	-|-	1|2	0|0	BRAF|BRAF	140099662|140099662	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.921000|7.921000	0.87530|0.87530	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	ATA|AAT		0.358	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333	Missense_Mutation
TRPV6	55503	hgsc.bcm.edu	37	7	142571892	142571892	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr7:142571892T>C	ENST00000359396.3	-	12	1701	c.1456A>G	c.(1456-1458)Att>Gtt	p.I486V	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	486					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TCGCCAAAAATCATCTAGAAG	0.547																																																	0			7											68.0	51.0	57.0					7																	142571892		2203	4300	6503	142282014	SO:0001583	missense	55503			AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1456A>G	7.37:g.142571892T>C	ENSP00000352358:p.Ile486Val		142282014	A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	T	14.64	2.594587	0.46214	.	.	ENSG00000165125	ENST00000359396;ENST00000311470;ENST00000436401	D;D	0.98474	-4.95;-2.57	5.0	5.0	0.66597	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97860	0.9297	M	0.71296	2.17	0.58432	D	0.999996	P	0.36171	0.541	P	0.45712	0.491	D	0.98048	1.0386	10	0.42905	T	0.14	-16.0181	14.171	0.65510	0.0:0.0:0.0:1.0	.	486	Q9H1D0	TRPV6_HUMAN	V	486;318;109	ENSP00000352358:I486V;ENSP00000411100:I109V	ENSP00000310825:I318V	I	-	1	0	TRPV6	142282014	1.000000	0.71417	1.000000	0.80357	0.263000	0.26337	5.187000	0.65087	1.996000	0.58369	0.533000	0.62120	ATT		0.547	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274	
PRKAG2	51422	hgsc.bcm.edu	37	7	151478503	151478503	+	Silent	SNP	G	G	A			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr7:151478503G>A	ENST00000287878.4	-	3	705	c.201C>T	c.(199-201)ttC>ttT	p.F67F	PRKAG2_ENST00000392801.2_Silent_p.F23F|PRKAG2_ENST00000461529.1_5'UTR	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	67					ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Acetylsalicylic acid(DB00945)	TGCCCGGGCCGAAGGGGCTGT	0.627																																																	0			7											16.0	14.0	15.0					7																	151478503		2197	4299	6496	151109436	SO:0001819	synonymous_variant	51422			AF087875	CCDS5928.1, CCDS43683.1, CCDS47752.1	7q35-q36	2014-09-17			ENSG00000106617	ENSG00000106617			9386	protein-coding gene	gene with protein product	"""AMPK gamma2"""	602743				8557660, 8621499	Standard	NM_024429		Approved	AAKG, AAKG2, H91620p, WPWS, CMH6	uc003wkk.3	Q9UGJ0	OTTHUMG00000157324	ENST00000287878.4:c.201C>T	7.37:g.151478503G>A			151109436	Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	Silent	SNP	ENST00000287878.4	37	CCDS5928.1																																																																																				0.627	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348440.2	NM_016203	
CPXM1	56265	hgsc.bcm.edu	37	20	2775016	2775016	+	Silent	SNP	G	G	A	rs150179711	byFrequency	TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr20:2775016G>A	ENST00000380605.2	-	14	2089	c.2025C>T	c.(2023-2025)gcC>gcT	p.A675A		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	675					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GGTAGCCCTCGGCACTGGCAG	0.582													g|||	2	0.000399361	0.0	0.0	5008	,	,		18776	0.001		0.0	False		,,,				2504	0.001																0			20							,	0,4406		0,0,2203	56.0	55.0	55.0		1803,2025	-9.6	0.8	20	dbSNP_134	55	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	CPXM1	NM_001184699.1,NM_019609.4	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	601/661,675/735	2775016	2,13004	2203	4300	6503	2723016	SO:0001819	synonymous_variant	56265			AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"""carboxypeptidase-like protein X1"""	609555	"""carboxypeptidase X (M14 family)"""	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.2025C>T	20.37:g.2775016G>A			2723016	Q6P4G8|Q6UW65|Q9NUB5	Silent	SNP	ENST00000380605.2	37	CCDS13033.1																																																																																				0.582	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609	
APCDD1L	164284	hgsc.bcm.edu	37	20	57036437	57036437	+	Silent	SNP	G	G	A			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr20:57036437G>A	ENST00000371149.3	-	4	1145	c.915C>T	c.(913-915)caC>caT	p.H305H	APCDD1L_ENST00000491015.1_5'UTR|APCDD1L_ENST00000439429.1_Silent_p.H316H	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	305						integral component of membrane (GO:0016021)				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			GGCTGTGCCCGTGGAAAGTGA	0.687																																																	0			20											20.0	19.0	20.0					20																	57036437		2195	4295	6490	56469843	SO:0001819	synonymous_variant	164284			AK074647	CCDS13467.1	20q13.32	2006-07-07			ENSG00000198768	ENSG00000198768			26892	protein-coding gene	gene with protein product							Standard	NM_153360		Approved	FLJ90166	uc002xze.1	Q8NCL9	OTTHUMG00000032845	ENST00000371149.3:c.915C>T	20.37:g.57036437G>A			56469843		Silent	SNP	ENST00000371149.3	37	CCDS13467.1																																																																																				0.687	APCDD1L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000079881.2	NM_153360	
ZNF280B	140883	hgsc.bcm.edu	37	22	22842615	22842615	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr22:22842615T>C	ENST00000406426.1	-	4	1851	c.1109A>G	c.(1108-1110)gAg>gGg	p.E370G	ZNF280B_ENST00000360412.2_Missense_Mutation_p.E370G			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	370					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		AGTAGAGGGCTCCTGGGCAGT	0.502																																																	0			22											121.0	113.0	116.0					22																	22842615		2203	4300	6503	21172615	SO:0001583	missense	140883			AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"""zinc finger protein 279"", ""suppressor of hairy wing homolog 2 (Drosophila)"""	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.1109A>G	22.37:g.22842615T>C	ENSP00000385998:p.Glu370Gly		21172615		Missense_Mutation	SNP	ENST00000406426.1	37	CCDS13799.1	.	.	.	.	.	.	.	.	.	.	T	10.78	1.447257	0.25987	.	.	ENSG00000198477	ENST00000406426;ENST00000360412	T;T	0.03553	3.89;3.89	4.85	4.85	0.62838	Zinc finger, C2H2 (1);	.	.	.	.	T	0.03136	0.0092	N	0.14661	0.345	0.43095	D	0.994773	B	0.13145	0.007	B	0.12837	0.008	T	0.51148	-0.8742	9	0.49607	T	0.09	-3.6511	12.726	0.57170	0.0:0.0:0.0:1.0	.	370	Q86YH2	Z280B_HUMAN	G	370	ENSP00000385998:E370G;ENSP00000353586:E370G	ENSP00000353586:E370G	E	-	2	0	ZNF280B	21172615	1.000000	0.71417	0.818000	0.32626	0.218000	0.24690	3.357000	0.52277	2.172000	0.68678	0.533000	0.62120	GAG		0.502	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321170.2	NM_080764	
TTLL12	23170	hgsc.bcm.edu	37	22	43570384	43570384	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr22:43570384C>T	ENST00000216129.6	-	8	1123	c.1060G>A	c.(1060-1062)Gtg>Atg	p.V354M	TTLL12_ENST00000494035.1_5'Flank|TTLL12_ENST00000484118.1_5'UTR	NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	354	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)					central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				TTCAGCAGCACGCCTGGCCTC	0.697																																																	0			22											31.0	36.0	34.0					22																	43570384		2203	4299	6502	41900328	SO:0001583	missense	23170			D63487	CCDS14047.1	22q13.31	2013-02-14	2006-02-02		ENSG00000100304	ENSG00000100304		"""Tubulin tyrosine ligase-like family"""	28974	protein-coding gene	gene with protein product						15890843	Standard	NM_015140		Approved	KIAA0153	uc003bdp.3	Q14166	OTTHUMG00000150682	ENST00000216129.6:c.1060G>A	22.37:g.43570384C>T	ENSP00000216129:p.Val354Met		41900328	Q20WK5|Q9UGU3	Missense_Mutation	SNP	ENST00000216129.6	37	CCDS14047.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842404	0.51057	.	.	ENSG00000100304	ENST00000216129;ENST00000423379	T	0.05649	3.41	4.67	4.67	0.58626	.	0.068363	0.64402	D	0.000018	T	0.11153	0.0272	M	0.69248	2.105	0.58432	D	0.999999	P;P	0.47106	0.89;0.89	B;B	0.43445	0.42;0.42	T	0.02512	-1.1148	10	0.49607	T	0.09	-31.9055	13.3423	0.60551	0.0:0.8415:0.1585:0.0	.	354;354	B1AH89;Q14166	.;TTL12_HUMAN	M	354	ENSP00000216129:V354M	ENSP00000216129:V354M	V	-	1	0	TTLL12	41900328	1.000000	0.71417	0.908000	0.35775	0.333000	0.28666	4.506000	0.60428	2.119000	0.64992	0.655000	0.94253	GTG		0.697	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319611.1	NM_015140	
NOVA1	4857	hgsc.bcm.edu	37	14	27066568	27066568	+	Silent	SNP	C	C	T			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr14:27066568C>T	ENST00000344429.5	-	1	78	c.75G>A	c.(73-75)tcG>tcA	p.S25S	NOVA1-AS1_ENST00000547786.1_RNA|NOVA1_ENST00000539517.2_Silent_p.S25S|NOVA1_ENST00000551754.1_5'Flank|NOVA1_ENST00000267422.7_5'UTR|NOVA1_ENST00000547619.1_Silent_p.S25S|NOVA1_ENST00000465357.2_Silent_p.S25S|RP11-483C6.1_ENST00000572358.1_RNA|NOVA1_ENST00000574031.1_Silent_p.S25S	NM_006491.2	NP_006482.1	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	25					locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		GCCTTTTCCGCGAGTCCGGCG	0.667																																																	0			14											10.0	11.0	11.0					14																	27066568		2192	4281	6473	26136408	SO:0001819	synonymous_variant	4857			U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000344429.5:c.75G>A	14.37:g.27066568C>T			26136408	A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Silent	SNP	ENST00000344429.5	37	CCDS9635.1																																																																																				0.667	NOVA1-001	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276557.1	NM_006491	
PYGL	5836	hgsc.bcm.edu	37	14	51411055	51411055	+	Missense_Mutation	SNP	C	C	G			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr14:51411055C>G	ENST00000216392.7	-	1	399	c.67G>C	c.(67-69)Gag>Cag	p.E23Q	PYGL_ENST00000532462.1_Missense_Mutation_p.E23Q|PYGL_ENST00000544180.2_Missense_Mutation_p.E23Q	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	23					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	GCCACGTTCTCCACGCCCACG	0.672																																																	0			14											73.0	56.0	62.0					14																	51411055		2203	4300	6503	50480805	SO:0001583	missense	5836				CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.67G>C	14.37:g.51411055C>G	ENSP00000216392:p.Glu23Gln		50480805	A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Missense_Mutation	SNP	ENST00000216392.7	37	CCDS32080.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.816067	0.70912	.	.	ENSG00000100504	ENST00000532462;ENST00000544180;ENST00000216392	D;D;D	0.94376	-3.41;-3.16;-3.23	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	D	0.93429	0.7904	M	0.73372	2.23	0.80722	D	1	B;B;B	0.32731	0.369;0.382;0.055	B;B;B	0.42282	0.382;0.043;0.016	D	0.91540	0.5249	10	0.20046	T	0.44	.	15.7814	0.78264	0.0:1.0:0.0:0.0	.	23;45;23	F5H816;Q6P1L4;P06737	.;.;PYGL_HUMAN	Q	23	ENSP00000431657:E23Q;ENSP00000443787:E23Q;ENSP00000216392:E23Q	ENSP00000216392:E23Q	E	-	1	0	PYGL	50480805	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.307000	0.78920	2.206000	0.71126	0.561000	0.74099	GAG		0.672	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863	
TNFAIP2	7127	hgsc.bcm.edu	37	14	103593950	103593950	+	Missense_Mutation	SNP	C	C	G	rs1132339	byFrequency	TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr14:103593950C>G	ENST00000560869.1	+	3	1483	c.844C>G	c.(844-846)Cag>Gag	p.Q282E	TNFAIP2_ENST00000333007.1_Missense_Mutation_p.Q282E|TNFAIP2_ENST00000451723.2_5'UTR			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	282			Q -> E (in dbSNP:rs1132339). {ECO:0000269|PubMed:1374453, ECO:0000269|Ref.3}.		angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|exocytosis (GO:0006887)	exocyst (GO:0000145)|extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			GCTCTGGGTGCAGAACCTCTA	0.687													C|||	2617	0.522564	0.3971	0.5562	5008	,	,		11207	0.5556		0.6233	False		,,,				2504	0.5307																0			14						C	GLU/GLN	1760,2304		417,926,689	7.0	7.0	7.0		844	3.5	1.0	14	dbSNP_86	7	5280,2792		1829,1622,585	yes	missense	TNFAIP2	NM_006291.2	29	2246,2548,1274	GG,GC,CC		34.5887,43.3071,41.9908	probably-damaging	282/655	103593950	7040,5096	2032	4036	6068	102663703	SO:0001583	missense	7127				CCDS9979.1	14q32	2011-01-31				ENSG00000185215			11895	protein-coding gene	gene with protein product	"""exocyst complex component 3-like 3"""	603300				1374453	Standard	NM_006291		Approved	B94, EXOC3L3	uc001ymm.1	Q03169		ENST00000560869.1:c.844C>G	14.37:g.103593950C>G	ENSP00000452634:p.Gln282Glu		102663703	Q86VI0	Missense_Mutation	SNP	ENST00000560869.1	37	CCDS9979.1	1170	0.5357142857142857	211	0.42886178861788615	196	0.5414364640883977	307	0.5367132867132867	456	0.6015831134564644	C	13.60	2.284832	0.40394	0.433071	0.654113	ENSG00000185215	ENST00000333007	T	0.06371	3.31	4.42	3.5	0.40072	.	0.272836	0.38272	N	0.001756	T	0.00012	0.0000	M	0.64997	1.995	0.09310	P	1.0	D	0.56968	0.978	P	0.48227	0.571	T	0.07927	-1.0747	9	0.56958	D	0.05	-34.8346	10.7654	0.46291	0.1905:0.8095:0.0:0.0	rs1132339;rs3178152;rs3193023;rs3783389;rs11558552;rs57581835;rs3178152	282	Q03169	TNAP2_HUMAN	E	282	ENSP00000332326:Q282E	ENSP00000332326:Q282E	Q	+	1	0	TNFAIP2	102663703	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	1.263000	0.33004	0.794000	0.33899	0.289000	0.19496	CAG		0.687	TNFAIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415674.1	NM_006291	
MUM1	84939	hgsc.bcm.edu	37	19	1362290	1362290	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr19:1362290C>T	ENST00000415183.3	+	5	1182	c.1156C>T	c.(1156-1158)Cgt>Tgt	p.R386C	MUM1_ENST00000591806.1_Missense_Mutation_p.R386C|MUM1_ENST00000311401.5_Missense_Mutation_p.R317C|MUM1_ENST00000344663.3_Missense_Mutation_p.R386C			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	385					chromatin organization (GO:0006325)|DNA repair (GO:0006281)	nucleus (GO:0005634)	nucleosome binding (GO:0031491)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TAATTCCATGCGTTCTATCCT	0.498																																																	0			19											85.0	73.0	77.0					19																	1362290		2203	4300	6503	1313290	SO:0001583	missense	84939			AK075241	CCDS12062.1	19p13.3	2008-02-05				ENSG00000160953			29641	protein-coding gene	gene with protein product						11042152, 7644523	Standard	NM_032853		Approved	MUM-1	uc002lrz.2	Q2TAK8		ENST00000415183.3:c.1156C>T	19.37:g.1362290C>T	ENSP00000394925:p.Arg386Cys		1313290	A1L489|B5ME02|B7ZLY8|J3KQD6|Q13109|Q5XKB9|Q8N2I4|Q96A67	Missense_Mutation	SNP	ENST00000415183.3	37		.	.	.	.	.	.	.	.	.	.	C	14.35	2.508946	0.44660	.	.	ENSG00000160953	ENST00000344663;ENST00000311401;ENST00000415183	T;T;T	0.24151	1.89;1.89;1.87	4.56	-3.88	0.04205	.	2.083720	0.01962	N	0.043414	T	0.26085	0.0636	N	0.24115	0.695	0.09310	N	1	D;D;D;D	0.69078	0.989;0.996;0.997;0.987	B;B;P;B	0.49953	0.332;0.332;0.627;0.431	T	0.43048	-0.9415	10	0.54805	T	0.06	.	11.2883	0.49234	0.2274:0.6893:0.0833:0.0	.	386;386;317;385	B7ZLY8;D6W5Y8;Q2TAK8-2;Q2TAK8	.;.;.;MUM1_HUMAN	C	386;317;386	ENSP00000345789:R386C;ENSP00000309135:R317C;ENSP00000394925:R386C	ENSP00000309135:R317C	R	+	1	0	MUM1	1313290	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.575000	0.05861	-1.476000	0.01874	-0.397000	0.06425	CGT		0.498	MUM1-016	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000449510.1	NM_032853	
MUC16	94025	hgsc.bcm.edu	37	19	9066448	9066448	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr19:9066448A>G	ENST00000397910.4	-	3	21201	c.20998T>C	c.(20998-21000)Tct>Cct	p.S7000P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7002	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGGACTGAGAAGGGCCAGGG	0.493																																																	0			19											263.0	245.0	251.0					19																	9066448		1993	4176	6169	8927448	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.20998T>C	19.37:g.9066448A>G	ENSP00000381008:p.Ser7000Pro		8927448	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	2.881	-0.231868	0.05983	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	2.77	-5.53	0.02552	.	.	.	.	.	T	0.01592	0.0051	N	0.14661	0.345	.	.	.	B	0.09022	0.002	B	0.06405	0.002	T	0.46735	-0.9170	8	0.87932	D	0	.	1.9791	0.03422	0.1296:0.3491:0.1247:0.3966	.	7000	B5ME49	.	P	7000	ENSP00000381008:S7000P	ENSP00000381008:S7000P	S	-	1	0	MUC16	8927448	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.124000	0.00290	-2.060000	0.00893	-2.195000	0.00310	TCT		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
KANK2	25959	hgsc.bcm.edu	37	19	11304015	11304015	+	Silent	SNP	C	C	T			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr19:11304015C>T	ENST00000586659.1	-	4	1055	c.741G>A	c.(739-741)gaG>gaA	p.E247E	KANK2_ENST00000589894.1_Silent_p.E247E|KANK2_ENST00000355150.5_Silent_p.E247E|KANK2_ENST00000432929.2_Silent_p.E247E|KANK2_ENST00000589359.1_Silent_p.E247E			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	247					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CCAGGCAGAGCTCGCTGCGAC	0.642																																																	0			19											23.0	26.0	25.0					19																	11304015		2198	4292	6490	11165015	SO:0001819	synonymous_variant	25959			AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	29300	protein-coding gene	gene with protein product		614610	"""matrix-remodelling associated 3"", ""ankyrin repeat domain 25"""	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.741G>A	19.37:g.11304015C>T			11165015	B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Silent	SNP	ENST00000586659.1	37	CCDS12255.1																																																																																				0.642	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	NM_015493	
GTPBP3	84705	hgsc.bcm.edu	37	19	17451981	17451981	+	Missense_Mutation	SNP	G	G	A	rs3745193	byFrequency	TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr19:17451981G>A	ENST00000324894.8	+	8	1171	c.1103G>A	c.(1102-1104)cGc>cAc	p.R368H	GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000600625.1_Missense_Mutation_p.R347H|GTPBP3_ENST00000358792.7_Missense_Mutation_p.R400H|GTPBP3_ENST00000361619.5_Missense_Mutation_p.R390H	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	368	TrmE-type G.		R -> H (in dbSNP:rs3745193). {ECO:0000269|PubMed:15489334}.		tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						AGCAGCCAGCGCCTCCTCCTG	0.662													G|||	477	0.0952476	0.0023	0.111	5008	,	,		13930	0.2976		0.0189	False		,,,				2504	0.0798																0			19						G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	30,4376	36.8+/-68.6	0,30,2173	46.0	43.0	44.0		1040,1169,1103,1199	1.8	1.0	19	dbSNP_107	44	245,8355	97.9+/-159.5	2,241,4057	yes	missense,missense,missense,missense	GTPBP3	NM_001128855.2,NM_001195422.1,NM_032620.3,NM_133644.3	29,29,29,29	2,271,6230	AA,AG,GG		2.8488,0.6809,2.1144	benign,benign,benign,benign	347/472,390/515,368/493,400/525	17451981	275,12731	2203	4300	6503	17312981	SO:0001583	missense	84705			AF360742	CCDS32950.1, CCDS32951.1, CCDS56088.1, CCDS59364.1	19p13.2	2008-02-05				ENSG00000130299			14880	protein-coding gene	gene with protein product		608536				1290633	Standard	NM_001128855		Approved	MSS1, THDF1, GTPBG3, MTGP1, FLJ14700	uc010xpo.2	Q969Y2		ENST00000324894.8:c.1103G>A	19.37:g.17451981G>A	ENSP00000313818:p.Arg368His		17312981	A6NFH1|A6NIG5|A6NKR4|A8K7B4|B7Z4V8|Q8TCY6|Q8WUW9|Q969G4|Q9BX61	Missense_Mutation	SNP	ENST00000324894.8	37	CCDS32951.1	270	0.12362637362637363	2	0.0040650406504065045	46	0.1270718232044199	202	0.3531468531468531	20	0.026385224274406333	G	15.21	2.767190	0.49574	0.006809	0.028488	ENSG00000130299	ENST00000361619;ENST00000324894;ENST00000358792	T;T;T	0.13657	2.57;2.57;2.57	5.31	1.84	0.25277	GTP-binding domain, HSR1-related (1);	0.321413	0.31531	N	0.007500	T	0.00012	0.0000	L	0.35414	1.06	0.22050	P	0.999397508	B;B;B;B	0.23377	0.028;0.059;0.084;0.069	B;B;B;B	0.22386	0.01;0.039;0.034;0.015	T	0.46624	-0.9178	9	0.59425	D	0.04	-15.2831	4.2285	0.10592	0.2754:0.17:0.5546:0.0	rs3745193;rs17851736;rs3745193	390;368;347;400	A6NIG5;Q969Y2;Q969Y2-3;Q969Y2-2	.;GTPB3_HUMAN;.;.	H	390;368;400	ENSP00000354598:R390H;ENSP00000313818:R368H;ENSP00000351644:R400H	ENSP00000313818:R368H	R	+	2	0	GTPBP3	17312981	0.100000	0.21855	1.000000	0.80357	0.600000	0.36913	1.530000	0.36007	0.631000	0.30412	0.484000	0.47621	CGC		0.662	GTPBP3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463624.1	NM_032620	
ZNF714	148206	hgsc.bcm.edu	37	19	21299951	21299951	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr19:21299951C>T	ENST00000596143.1	+	5	806	c.481C>T	c.(481-483)Caa>Taa	p.Q161*	ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	161					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						ACACCTACATCAACATAAAAG	0.323																																																	0			19											50.0	56.0	54.0					19																	21299951		2174	4278	6452	21091791	SO:0001587	stop_gained	148206			AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"""Zinc fingers, C2H2-type"""	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.481C>T	19.37:g.21299951C>T	ENSP00000472368:p.Gln161*		21091791	Q49AI1|Q86W65|Q8ND40	Nonsense_Mutation	SNP	ENST00000596143.1	37	CCDS54239.1	.	.	.	.	.	.	.	.	.	.	.	16.16	3.045767	0.55110	.	.	ENSG00000160352	ENST00000343332;ENST00000291770	.	.	.	0.889	-1.55	0.08558	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	7.4808	0.27404	0.0:0.7304:0.2696:0.0	.	.	.	.	X	161	.	ENSP00000291770:Q161X	Q	+	1	0	ZNF714	21091791	0.000000	0.05858	0.137000	0.22149	0.135000	0.20990	-0.245000	0.08890	0.300000	0.22699	0.306000	0.20318	CAA		0.323	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463930.1	NM_182515	
ZNF714	148206	hgsc.bcm.edu	37	19	21300050	21300050	+	Missense_Mutation	SNP	C	C	G	rs377506115		TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr19:21300050C>G	ENST00000596143.1	+	5	905	c.580C>G	c.(580-582)Cat>Gat	p.H194D	ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	194					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						CAAGAGAGTTCATACTGGAGA	0.373																																																	0			19						C	ASP/HIS	0,4342		0,0,2171	60.0	66.0	64.0		580	1.0	0.0	19		64	1,8563		0,1,4281	no	missense	ZNF714	NM_182515.3	81	0,1,6452	GG,GC,CC		0.0117,0.0,0.0077	probably-damaging	194/555	21300050	1,12905	2171	4282	6453	21091890	SO:0001583	missense	148206			AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"""Zinc fingers, C2H2-type"""	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.580C>G	19.37:g.21300050C>G	ENSP00000472368:p.His194Asp		21091890	Q49AI1|Q86W65|Q8ND40	Missense_Mutation	SNP	ENST00000596143.1	37	CCDS54239.1	.	.	.	.	.	.	.	.	.	.	.	12.26	1.883232	0.33255	0.0	1.17E-4	ENSG00000160352	ENST00000343332;ENST00000291770	.	.	.	1.02	1.02	0.19986	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.77824	0.4188	H	0.97440	4.005	0.28978	N	0.888805	D;D;D	0.89917	0.982;1.0;1.0	D;D;D	0.91635	0.925;0.999;0.999	T	0.66913	-0.5803	8	0.72032	D	0.01	.	5.095	0.14729	0.0:0.7691:0.0:0.2309	.	195;194;195	Q96N38-2;A6NEM4;Q96N38	.;.;ZN714_HUMAN	D	194	.	ENSP00000291770:H194D	H	+	1	0	ZNF714	21091890	0.945000	0.32115	0.010000	0.14722	0.009000	0.06853	2.535000	0.45685	0.452000	0.26830	0.456000	0.33151	CAT		0.373	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463930.1	NM_182515	
ZNF714	148206	hgsc.bcm.edu	37	19	21300108	21300108	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr19:21300108C>T	ENST00000596143.1	+	5	963	c.638C>T	c.(637-639)tCa>tTa	p.S213L	ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	213					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						AAGCACTCCTCAACCCTTACT	0.413																																																	0			19											53.0	56.0	55.0					19																	21300108		2188	4293	6481	21091948	SO:0001583	missense	148206			AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"""Zinc fingers, C2H2-type"""	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.638C>T	19.37:g.21300108C>T	ENSP00000472368:p.Ser213Leu		21091948	Q49AI1|Q86W65|Q8ND40	Missense_Mutation	SNP	ENST00000596143.1	37	CCDS54239.1	.	.	.	.	.	.	.	.	.	.	.	12.69	2.014228	0.35511	.	.	ENSG00000160352	ENST00000343332;ENST00000291770	.	.	.	1.02	1.02	0.19986	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.64204	0.2577	M	0.76574	2.34	0.09310	N	1	D;P;D	0.89917	1.0;0.908;0.97	D;P;P	0.78314	0.991;0.521;0.715	T	0.51553	-0.8691	8	0.66056	D	0.02	.	8.8919	0.35439	0.0:1.0:0.0:0.0	.	214;213;214	Q96N38-2;A6NEM4;Q96N38	.;.;ZN714_HUMAN	L	213	.	ENSP00000291770:S213L	S	+	2	0	ZNF714	21091948	0.000000	0.05858	0.005000	0.12908	0.004000	0.04260	-0.433000	0.06948	0.452000	0.26830	0.456000	0.33151	TCA		0.413	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463930.1	NM_182515	
ZNF714	148206	hgsc.bcm.edu	37	19	21300150	21300150	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr19:21300150C>T	ENST00000596143.1	+	5	1005	c.680C>T	c.(679-681)cCc>cTc	p.P227L	ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	227					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						GGAGAGAAACCCTACAGATGT	0.403																																																	0			19											45.0	47.0	47.0					19																	21300150		2183	4296	6479	21091990	SO:0001583	missense	148206			AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"""Zinc fingers, C2H2-type"""	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.680C>T	19.37:g.21300150C>T	ENSP00000472368:p.Pro227Leu		21091990	Q49AI1|Q86W65|Q8ND40	Missense_Mutation	SNP	ENST00000596143.1	37	CCDS54239.1	.	.	.	.	.	.	.	.	.	.	.	14.87	2.664644	0.47572	.	.	ENSG00000160352	ENST00000343332;ENST00000291770	.	.	.	1.02	1.02	0.19986	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.75591	0.3870	M	0.79805	2.47	0.51233	D	0.999918	D;D;D	0.89917	0.966;1.0;1.0	P;D;D	0.97110	0.717;0.992;1.0	T	0.73949	-0.3821	8	0.51188	T	0.08	.	8.8919	0.35439	0.0:1.0:0.0:0.0	.	228;227;228	Q96N38-2;A6NEM4;Q96N38	.;.;ZN714_HUMAN	L	227	.	ENSP00000291770:P227L	P	+	2	0	ZNF714	21091990	0.463000	0.25799	0.076000	0.20297	0.069000	0.16628	2.452000	0.44961	0.452000	0.26830	0.456000	0.33151	CCC		0.403	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463930.1	NM_182515	
ZNF714	148206	hgsc.bcm.edu	37	19	21300365	21300365	+	Missense_Mutation	SNP	C	C	G			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr19:21300365C>G	ENST00000596143.1	+	5	1220	c.895C>G	c.(895-897)Ctt>Gtt	p.L299V	ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	299					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						ATTCTCATACCTTACTAAACA	0.343																																																	0			19											23.0	25.0	24.0					19																	21300365		2176	4291	6467	21092205	SO:0001583	missense	148206			AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"""Zinc fingers, C2H2-type"""	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.895C>G	19.37:g.21300365C>G	ENSP00000472368:p.Leu299Val		21092205	Q49AI1|Q86W65|Q8ND40	Missense_Mutation	SNP	ENST00000596143.1	37	CCDS54239.1	.	.	.	.	.	.	.	.	.	.	.	4.885	0.164525	0.09287	.	.	ENSG00000160352	ENST00000343332;ENST00000291770	.	.	.	0.955	0.955	0.19602	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.70640	0.3247	M	0.90870	3.155	0.09310	N	0.999998	D;P;D	0.61697	0.99;0.931;0.962	D;P;D	0.75020	0.982;0.549;0.985	T	0.58267	-0.7666	8	0.72032	D	0.01	.	8.8708	0.35314	0.0:1.0:0.0:0.0	.	300;299;300	Q96N38-2;A6NEM4;Q96N38	.;.;ZN714_HUMAN	V	299	.	ENSP00000291770:L299V	L	+	1	0	ZNF714	21092205	0.005000	0.15991	0.021000	0.16686	0.019000	0.09904	0.338000	0.19858	0.446000	0.26666	0.449000	0.29647	CTT		0.343	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463930.1	NM_182515	
ZNF714	148206	hgsc.bcm.edu	37	19	21300528	21300528	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr19:21300528C>G	ENST00000596143.1	+	5	1383	c.1058C>G	c.(1057-1059)tCa>tGa	p.S353*	ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	353					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						AATGTGTCTTCACACCTTACT	0.373																																																	0			19											42.0	45.0	44.0					19																	21300528		2175	4288	6463	21092368	SO:0001587	stop_gained	148206			AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"""Zinc fingers, C2H2-type"""	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.1058C>G	19.37:g.21300528C>G	ENSP00000472368:p.Ser353*		21092368	Q49AI1|Q86W65|Q8ND40	Nonsense_Mutation	SNP	ENST00000596143.1	37	CCDS54239.1	.	.	.	.	.	.	.	.	.	.	.	16.77	3.213835	0.58452	.	.	ENSG00000160352	ENST00000343332;ENST00000291770	.	.	.	0.955	0.955	0.19602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	8.8708	0.35314	0.0:1.0:0.0:0.0	.	.	.	.	X	353	.	ENSP00000291770:S353X	S	+	2	0	ZNF714	21092368	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	0.547000	0.23299	0.446000	0.26666	0.449000	0.29647	TCA		0.373	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463930.1	NM_182515	
ZNF714	148206	hgsc.bcm.edu	37	19	21300554	21300554	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr19:21300554C>T	ENST00000596143.1	+	5	1409	c.1084C>T	c.(1084-1086)Cat>Tat	p.H362Y	ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	362					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H362N(1)		endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						TAAGATGATTCATACTGGAGA	0.358																																																	1	Substitution - Missense(1)	large_intestine(1)	19											41.0	44.0	43.0					19																	21300554		2169	4283	6452	21092394	SO:0001583	missense	148206			AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"""Zinc fingers, C2H2-type"""	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.1084C>T	19.37:g.21300554C>T	ENSP00000472368:p.His362Tyr		21092394	Q49AI1|Q86W65|Q8ND40	Missense_Mutation	SNP	ENST00000596143.1	37	CCDS54239.1	.	.	.	.	.	.	.	.	.	.	.	11.18	1.561667	0.27915	.	.	ENSG00000160352	ENST00000343332;ENST00000291770	.	.	.	0.955	0.955	0.19602	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.76478	0.3993	H	0.95004	3.61	0.29908	N	0.823782	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.998;0.998	T	0.70557	-0.4839	8	0.66056	D	0.02	.	8.8708	0.35314	0.0:1.0:0.0:0.0	.	363;362;363	Q96N38-2;A6NEM4;Q96N38	.;.;ZN714_HUMAN	Y	362	.	ENSP00000291770:H362Y	H	+	1	0	ZNF714	21092394	0.999000	0.42202	0.441000	0.26858	0.428000	0.31595	5.289000	0.65656	0.446000	0.26666	0.449000	0.29647	CAT		0.358	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463930.1	NM_182515	
ZNF714	148206	hgsc.bcm.edu	37	19	21300696	21300696	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr19:21300696C>G	ENST00000596143.1	+	5	1551	c.1226C>G	c.(1225-1227)tCa>tGa	p.S409*	ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	409					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						AACCAATCCTCAAACCTTACC	0.353																																																	0			19											36.0	39.0	38.0					19																	21300696		2149	4278	6427	21092536	SO:0001587	stop_gained	148206			AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"""Zinc fingers, C2H2-type"""	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.1226C>G	19.37:g.21300696C>G	ENSP00000472368:p.Ser409*		21092536	Q49AI1|Q86W65|Q8ND40	Nonsense_Mutation	SNP	ENST00000596143.1	37	CCDS54239.1	.	.	.	.	.	.	.	.	.	.	.	24.8	4.571314	0.86542	.	.	ENSG00000160352	ENST00000343332;ENST00000291770	.	.	.	1.05	1.05	0.20165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	8.9116	0.35557	0.0:1.0:0.0:0.0	.	.	.	.	X	409	.	ENSP00000291770:S409X	S	+	2	0	ZNF714	21092536	0.000000	0.05858	0.006000	0.13384	0.006000	0.05464	-0.590000	0.05760	0.459000	0.27016	0.462000	0.41574	TCA		0.353	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463930.1	NM_182515	
ZNF714	148206	hgsc.bcm.edu	37	19	21300765	21300765	+	Missense_Mutation	SNP	C	C	G			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr19:21300765C>G	ENST00000596143.1	+	5	1620	c.1295C>G	c.(1294-1296)gCt>gGt	p.A432G	ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	432					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						TGTGGCAAAGCTTTTAACCGA	0.383																																																	0			19											41.0	44.0	43.0					19																	21300765		2179	4293	6472	21092605	SO:0001583	missense	148206			AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"""Zinc fingers, C2H2-type"""	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.1295C>G	19.37:g.21300765C>G	ENSP00000472368:p.Ala432Gly		21092605	Q49AI1|Q86W65|Q8ND40	Missense_Mutation	SNP	ENST00000596143.1	37	CCDS54239.1	.	.	.	.	.	.	.	.	.	.	.	6.963	0.547540	0.13312	.	.	ENSG00000160352	ENST00000343332;ENST00000291770	.	.	.	1.05	-0.725	0.11174	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19248	0.0462	N	0.12471	0.22	0.24525	N	0.994144	B;B;B	0.22480	0.033;0.025;0.07	B;B;B	0.27796	0.036;0.055;0.083	T	0.25398	-1.0133	8	0.62326	D	0.03	.	4.8834	0.13690	0.0:0.5928:0.0:0.4072	.	433;432;433	Q96N38-2;A6NEM4;Q96N38	.;.;ZN714_HUMAN	G	432	.	ENSP00000291770:A432G	A	+	2	0	ZNF714	21092605	0.000000	0.05858	0.028000	0.17463	0.027000	0.11550	-0.049000	0.11924	-0.384000	0.07845	-0.379000	0.06801	GCT		0.383	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463930.1	NM_182515	
ZNF714	148206	hgsc.bcm.edu	37	19	21300777	21300777	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr19:21300777C>T	ENST00000596143.1	+	5	1632	c.1307C>T	c.(1306-1308)tCc>tTc	p.S436F	ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	436					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						TTTAACCGATCCTCAAACCTT	0.368																																																	0			19											42.0	45.0	44.0					19																	21300777		2187	4290	6477	21092617	SO:0001583	missense	148206			AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"""Zinc fingers, C2H2-type"""	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.1307C>T	19.37:g.21300777C>T	ENSP00000472368:p.Ser436Phe		21092617	Q49AI1|Q86W65|Q8ND40	Missense_Mutation	SNP	ENST00000596143.1	37	CCDS54239.1	.	.	.	.	.	.	.	.	.	.	.	6.271	0.418144	0.11870	.	.	ENSG00000160352	ENST00000343332;ENST00000291770	.	.	.	1.05	-2.11	0.07187	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41143	0.1146	L	0.41415	1.275	0.09310	N	1	B;B;D	0.89917	0.033;0.016;1.0	B;B;D	0.87578	0.059;0.01;0.998	T	0.27536	-1.0071	8	0.38643	T	0.18	.	3.3998	0.07319	0.0:0.2151:0.2269:0.558	.	437;436;437	Q96N38-2;A6NEM4;Q96N38	.;.;ZN714_HUMAN	F	436	.	ENSP00000291770:S436F	S	+	2	0	ZNF714	21092617	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.734000	0.01848	-0.384000	0.07845	-0.379000	0.06801	TCC		0.368	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463930.1	NM_182515	
ZNF493	284443	hgsc.bcm.edu	37	19	21605924	21605924	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr19:21605924C>T	ENST00000355504.4	+	2	345	c.79C>T	c.(79-81)Caa>Taa	p.Q27*	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Nonsense_Mutation_p.Q155*	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	27					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						CAAAATATTTCAATGTGATAA	0.284																																																	0			19											67.0	71.0	70.0					19																	21605924		2203	4287	6490	21397764	SO:0001587	stop_gained	284443			AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.79C>T	19.37:g.21605924C>T	ENSP00000347691:p.Gln27*		21397764	G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Nonsense_Mutation	SNP	ENST00000355504.4	37	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	13.25	2.180440	0.38511	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	.	.	.	1.05	-1.67	0.08238	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.883	0.03232	0.3168:0.4406:0.0:0.2426	.	.	.	.	X	155;27	.	ENSP00000347691:Q27X	Q	+	1	0	ZNF493	21397764	0.057000	0.20700	0.008000	0.14137	0.007000	0.05969	0.741000	0.26202	-0.530000	0.06349	-0.535000	0.04281	CAA		0.284	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910	
ZNF493	284443	hgsc.bcm.edu	37	19	21606037	21606037	+	Silent	SNP	C	C	T	rs572127415	byFrequency	TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr19:21606037C>T	ENST00000355504.4	+	2	458	c.192C>T	c.(190-192)tgC>tgT	p.C64C	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Silent_p.C192C	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	64					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						AATCATTTTGCATGCTTTTAC	0.308													.|||	2	0.000399361	0.0	0.0	5008	,	,		19091	0.0		0.0	False		,,,				2504	0.002																0			19											50.0	56.0	54.0					19																	21606037		2203	4296	6499	21397877	SO:0001819	synonymous_variant	284443			AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.192C>T	19.37:g.21606037C>T			21397877	G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Silent	SNP	ENST00000355504.4	37	CCDS12412.1																																																																																				0.308	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910	
ZNF493	284443	hgsc.bcm.edu	37	19	21606056	21606056	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr19:21606056C>T	ENST00000355504.4	+	2	477	c.211C>T	c.(211-213)Cag>Tag	p.Q71*	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Nonsense_Mutation_p.Q199*	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	71					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						ACACCTATGTCAGCATAAAAG	0.328																																																	0			19											52.0	58.0	56.0					19																	21606056		2203	4293	6496	21397896	SO:0001587	stop_gained	284443			AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.211C>T	19.37:g.21606056C>T	ENSP00000347691:p.Gln71*		21397896	G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Nonsense_Mutation	SNP	ENST00000355504.4	37	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	12.94	2.088962	0.36855	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	.	.	.	1.05	-2.1	0.07210	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	.	0.9385	0.01350	0.2944:0.3632:0.1734:0.1689	.	.	.	.	X	199;71	.	ENSP00000347691:Q71X	Q	+	1	0	ZNF493	21397896	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.132000	0.00288	-1.585000	0.01634	-1.613000	0.00800	CAG		0.328	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910	
ZNF493	284443	hgsc.bcm.edu	37	19	21606129	21606129	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr19:21606129C>T	ENST00000355504.4	+	2	550	c.284C>T	c.(283-285)tCa>tTa	p.S95L	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.S223L	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	95					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						ATCTGGTTTTCAACCCTTACT	0.363																																																	0			19											47.0	52.0	50.0					19																	21606129		2198	4296	6494	21397969	SO:0001583	missense	284443			AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.284C>T	19.37:g.21606129C>T	ENSP00000347691:p.Ser95Leu		21397969	G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	11.19	1.564858	0.27915	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.58797	0.31;4.68	1.05	-0.842	0.10748	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.72700	0.3493	M	0.84511	2.7	0.09310	N	1	P;D	0.67145	0.955;0.996	D;D	0.77557	0.928;0.99	T	0.59096	-0.7518	9	0.72032	D	0.01	.	6.1953	0.20546	0.0:0.684:0.316:0.0	.	95;223	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	L	223;95	ENSP00000376110:S223L;ENSP00000347691:S95L	ENSP00000347691:S95L	S	+	2	0	ZNF493	21397969	0.000000	0.05858	0.010000	0.14722	0.010000	0.07245	-0.043000	0.12043	0.452000	0.26830	0.460000	0.39030	TCA		0.363	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910	
ZNF493	284443	hgsc.bcm.edu	37	19	21606236	21606236	+	Missense_Mutation	SNP	C	C	G	rs371368724		TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr19:21606236C>G	ENST00000355504.4	+	2	657	c.391C>G	c.(391-393)Cat>Gat	p.H131D	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.H259D	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	131					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TAAGAGAATTCATACTGGACA	0.373																																																	0			19						C	ASP/HIS,ASP/HIS	0,4406		0,0,2203	38.0	41.0	40.0		775,391	0.9	0.1	19		40	1,8593		0,1,4296	no	missense,missense	ZNF493	NM_001076678.2,NM_175910.6	81,81	0,1,6499	GG,GC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	259/775,131/647	21606236	1,12999	2203	4297	6500	21398076	SO:0001583	missense	284443			AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.391C>G	19.37:g.21606236C>G	ENSP00000347691:p.His131Asp		21398076	G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	10.06	1.246144	0.22796	0.0	1.16E-4	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.67698	-0.28;-0.28	0.927	0.927	0.19437	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.85048	0.5608	H	0.96805	3.885	0.80722	D	1	D;D	0.89917	1.0;0.962	D;P	0.87578	0.998;0.63	D	0.84806	0.0787	9	0.87932	D	0	.	8.6978	0.34307	0.0:1.0:0.0:0.0	.	131;259	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	D	259;131	ENSP00000376110:H259D;ENSP00000347691:H131D	ENSP00000347691:H131D	H	+	1	0	ZNF493	21398076	0.980000	0.34600	0.138000	0.22173	0.132000	0.20833	2.615000	0.46368	0.378000	0.24764	0.384000	0.25694	CAT		0.373	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910	
ZNF493	284443	hgsc.bcm.edu	37	19	21606336	21606336	+	Missense_Mutation	SNP	C	C	A			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr19:21606336C>A	ENST00000355504.4	+	2	757	c.491C>A	c.(490-492)cCc>cAc	p.P164H	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.P292H	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	164					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						AGAGAGAAACCCTATAAATGT	0.343																																																	0			19											57.0	59.0	58.0					19																	21606336		2203	4297	6500	21398176	SO:0001583	missense	284443			AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.491C>A	19.37:g.21606336C>A	ENSP00000347691:p.Pro164His		21398176	G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	13.77	2.335922	0.41398	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.29397	1.57;1.57	0.927	0.927	0.19437	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.60090	0.2242	M	0.93898	3.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.64002	-0.6509	9	0.87932	D	0	.	8.6978	0.34307	0.0:1.0:0.0:0.0	.	164;292	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	H	292;164	ENSP00000376110:P292H;ENSP00000347691:P164H	ENSP00000347691:P164H	P	+	2	0	ZNF493	21398176	0.002000	0.14202	0.222000	0.23844	0.219000	0.24729	0.930000	0.28858	0.378000	0.24764	0.384000	0.25694	CCC		0.343	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910	
ZNF493	284443	hgsc.bcm.edu	37	19	21606392	21606392	+	Missense_Mutation	SNP	C	C	G			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr19:21606392C>G	ENST00000355504.4	+	2	813	c.547C>G	c.(547-549)Cat>Gat	p.H183D	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.H311D	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	183					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						CCTTACTGGACATAAGATAAT	0.333																																																	0			19											40.0	43.0	42.0					19																	21606392		2203	4294	6497	21398232	SO:0001583	missense	284443			AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.547C>G	19.37:g.21606392C>G	ENSP00000347691:p.His183Asp		21398232	G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	11.79	1.742260	0.30865	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	D;D	0.86769	-2.17;-2.17	0.985	-0.629	0.11533	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94732	0.8300	H	0.98218	4.175	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.97110	1.0;0.986	D	0.91457	0.5186	9	0.87932	D	0	.	7.5185	0.27614	0.0:0.7281:0.2719:0.0	.	183;311	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	D	311;183	ENSP00000376110:H311D;ENSP00000347691:H183D	ENSP00000347691:H183D	H	+	1	0	ZNF493	21398232	0.739000	0.28196	0.004000	0.12327	0.004000	0.04260	2.769000	0.47654	-0.522000	0.06417	-0.521000	0.04368	CAT		0.333	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910	
ZNF493	284443	hgsc.bcm.edu	37	19	21606462	21606462	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr19:21606462C>G	ENST00000355504.4	+	2	883	c.617C>G	c.(616-618)tCa>tGa	p.S206*	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Nonsense_Mutation_p.S334*	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	206					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						AGTATTTTCTCAACCCCTACT	0.348																																																	0			19											35.0	39.0	38.0					19																	21606462		2199	4296	6495	21398302	SO:0001587	stop_gained	284443			AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.617C>G	19.37:g.21606462C>G	ENSP00000347691:p.Ser206*		21398302	G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Nonsense_Mutation	SNP	ENST00000355504.4	37	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	16.22	3.060371	0.55432	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	.	.	.	0.985	-1.07	0.09968	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	7.6352	0.28261	0.0:0.7353:0.2647:0.0	.	.	.	.	X	334;206	.	ENSP00000347691:S206X	S	+	2	0	ZNF493	21398302	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.948000	0.03897	0.399000	0.25367	0.404000	0.27445	TCA		0.348	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910	
ZNF493	284443	hgsc.bcm.edu	37	19	21606546	21606546	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr19:21606546C>G	ENST00000355504.4	+	2	967	c.701C>G	c.(700-702)tCa>tGa	p.S234*	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Nonsense_Mutation_p.S362*	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	234					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						AAGGAGTCCTCACACCTTACT	0.358																																																	0			19											48.0	52.0	51.0					19																	21606546		2201	4296	6497	21398386	SO:0001587	stop_gained	284443			AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.701C>G	19.37:g.21606546C>G	ENSP00000347691:p.Ser234*		21398386	G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Nonsense_Mutation	SNP	ENST00000355504.4	37	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	15.86	2.958898	0.53400	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	.	.	.	0.966	-1.15	0.09709	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	6.86	0.24062	0.2692:0.7308:0.0:0.0	.	.	.	.	X	362;234	.	ENSP00000347691:S234X	S	+	2	0	ZNF493	21398386	0.003000	0.15002	0.001000	0.08648	0.001000	0.01503	1.590000	0.36654	0.393000	0.25203	0.399000	0.26434	TCA		0.358	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910	
ZNF493	284443	hgsc.bcm.edu	37	19	21606656	21606656	+	Missense_Mutation	SNP	C	C	G			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr19:21606656C>G	ENST00000355504.4	+	2	1077	c.811C>G	c.(811-813)Cac>Gac	p.H271D	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.H399D	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	271					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TAAGATAATTCACACTGAAGA	0.358																																																	0			19											36.0	39.0	38.0					19																	21606656		2197	4295	6492	21398496	SO:0001583	missense	284443			AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.811C>G	19.37:g.21606656C>G	ENSP00000347691:p.His271Asp		21398496	G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	13.99	2.403328	0.42613	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.67698	-0.28;-0.28	1.03	1.03	0.20045	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.83709	0.5313	H	0.95004	3.61	0.80722	D	1	D;D	0.76494	0.999;0.98	D;D	0.91635	0.999;0.969	D	0.83818	0.0245	9	0.87932	D	0	.	8.893	0.35446	0.0:1.0:0.0:0.0	.	271;399	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	D	399;271	ENSP00000376110:H399D;ENSP00000347691:H271D	ENSP00000347691:H271D	H	+	1	0	ZNF493	21398496	0.902000	0.30710	0.002000	0.10522	0.002000	0.02628	2.780000	0.47742	0.447000	0.26695	0.454000	0.30748	CAC		0.358	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910	
ZNF493	284443	hgsc.bcm.edu	37	19	21606740	21606740	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr19:21606740C>T	ENST00000355504.4	+	2	1161	c.895C>T	c.(895-897)Cat>Tat	p.H299Y	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.H427Y	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	299					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TAAAAGAATTCATACTGGAGA	0.333																																																	0			19											31.0	34.0	33.0					19																	21606740		2185	4273	6458	21398580	SO:0001583	missense	284443			AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.895C>T	19.37:g.21606740C>T	ENSP00000347691:p.His299Tyr		21398580	G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	12.07	1.828619	0.32329	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.67523	-0.27;-0.27	1.03	-0.51	0.11973	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.82815	0.5119	H	0.94423	3.535	0.80722	D	1	D;P	0.89917	1.0;0.849	D;B	0.97110	1.0;0.155	T	0.79572	-0.1748	9	0.87932	D	0	.	6.9519	0.24550	0.2753:0.7247:0.0:0.0	.	299;427	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	Y	427;299	ENSP00000376110:H427Y;ENSP00000347691:H299Y	ENSP00000347691:H299Y	H	+	1	0	ZNF493	21398580	0.080000	0.21391	0.026000	0.17262	0.026000	0.11368	1.514000	0.35834	-0.386000	0.07821	-0.377000	0.06932	CAT		0.333	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910	
ZNF43	7594	hgsc.bcm.edu	37	19	21990501	21990501	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr19:21990501G>A	ENST00000354959.4	-	4	2507	c.2338C>T	c.(2338-2340)Cat>Tat	p.H780Y	ZNF43_ENST00000598381.1_Missense_Mutation_p.H774Y|ZNF43_ENST00000594012.1_Missense_Mutation_p.H774Y|ZNF43_ENST00000595461.1_Missense_Mutation_p.H774Y	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	780					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		ATTTTGTTATGTGTAGTAAGG	0.318																																																	0			19											61.0	62.0	62.0					19																	21990501		2203	4300	6503	21782341	SO:0001583	missense	7594			X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.2338C>T	19.37:g.21990501G>A	ENSP00000347045:p.His780Tyr		21782341	A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	37	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	G	16.82	3.227793	0.58668	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.59772	0.24	1.76	1.76	0.24704	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.75413	0.3846	M	0.84846	2.72	0.23855	N	0.996651	D	0.89917	1.0	D	0.72625	0.978	T	0.63010	-0.6732	9	0.87932	D	0	.	10.4707	0.44635	0.0:0.0:1.0:0.0	.	780	P17038	ZNF43_HUMAN	Y	779;780	ENSP00000347045:H780Y	ENSP00000347045:H780Y	H	-	1	0	ZNF43	21782341	1.000000	0.71417	0.004000	0.12327	0.890000	0.51754	4.867000	0.63013	0.976000	0.38417	0.305000	0.20034	CAT		0.318	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423	
RHPN2	85415	hgsc.bcm.edu	37	19	33493188	33493188	+	Missense_Mutation	SNP	T	T	A	rs193179333	byFrequency	TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr19:33493188T>A	ENST00000254260.3	-	9	1105	c.1070A>T	c.(1069-1071)cAc>cTc	p.H357L	RHPN2_ENST00000400226.4_Missense_Mutation_p.H206L	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	357	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)		p.H357L(2)		NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					AGTGAAGTAGTGGGCCAGGGC	0.647																																																	2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	19											45.0	42.0	43.0					19																	33493188		2203	4300	6503	38185028	SO:0001583	missense	85415			AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.1070A>T	19.37:g.33493188T>A	ENSP00000254260:p.His357Leu		38185028	B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Missense_Mutation	SNP	ENST00000254260.3	37	CCDS12427.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.323917	0.81580	.	.	ENSG00000131941	ENST00000254260;ENST00000544458;ENST00000400226	T;T	0.20598	2.06;2.06	4.61	4.61	0.57282	BRO1 domain (3);	0.045255	0.85682	D	0.000000	T	0.46619	0.1402	M	0.87269	2.87	0.80722	D	1	D	0.61080	0.989	P	0.58077	0.832	T	0.57934	-0.7725	10	0.87932	D	0	-27.93	14.3018	0.66357	0.0:0.0:0.0:1.0	.	357	Q8IUC4	RHPN2_HUMAN	L	357;87;206	ENSP00000254260:H357L;ENSP00000402244:H206L	ENSP00000254260:H357L	H	-	2	0	RHPN2	38185028	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	7.570000	0.82390	1.829000	0.53265	0.374000	0.22700	CAC		0.647	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103	
RHPN2	85415	hgsc.bcm.edu	37	19	33493200	33493201	+	Missense_Mutation	DNP	GC	GC	AT	rs200623446|rs201601538	byFrequency	TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	G|C	G|C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr19:33493200_33493201GC>AT	ENST00000254260.3	-	9	1092_1093	c.1057_1058GC>AT	c.(1057-1059)GCg>ATg	p.A353M	RHPN2_ENST00000400226.4_Missense_Mutation_p.A202M	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	353	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)		p.A353T(2)		NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GGCCAGGGCCGCGTAGTGGTGG	0.639																																																	2	Substitution - Missense(2)	central_nervous_system(2)	19																																								38185040|38185041	SO:0001583	missense	85415			AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.1057_1058delinsAT	19.37:g.33493200_33493201delinsAT	ENSP00000254260:p.Ala353Met		38185040|38185041	B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Missense_Mutation	SNP	ENST00000254260.3	37	CCDS12427.1																																																																																				0.639	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103	
IFNL2	282616	hgsc.bcm.edu	37	19	39760612	39760612	+	Nonsense_Mutation	SNP	C	C	T	rs200581777	byFrequency	TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr19:39760612C>T	ENST00000331982.5	+	6	617	c.562C>T	c.(562-564)Cga>Tga	p.R188*		NM_172138.1	NP_742150.1	Q8IZJ0	IFNL2_HUMAN	interferon, lambda 2	188					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|mucosal immune response (GO:0002385)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											CCTCCTCACGCGAGACCTGAA	0.547																																																	0			19						C	stop/ARG	0,4406		0,0,2203	44.0	44.0	44.0		562	-0.4	0.0	19		44	4,8596		0,4,4296	no	stop-gained	IL28A	NM_172138.1		0,4,6499	TT,TC,CC		0.0465,0.0,0.0308		188/201	39760612	4,13002	2203	4300	6503	44452452	SO:0001587	stop_gained	282616			AY129148	CCDS42567.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000183709	ENSG00000183709		"""Interferons"""	18364	protein-coding gene	gene with protein product		607401	"""interleukin 28A"", ""interleukin 28A (interferon, lambda 2)"""	IL28A			Standard	NM_172138		Approved	IL-28A	uc002oku.1	Q8IZJ0		ENST00000331982.5:c.562C>T	19.37:g.39760612C>T	ENSP00000333639:p.Arg188*		44452452	Q45KQ8|Q6VN55|Q8IWL7	Nonsense_Mutation	SNP	ENST00000331982.5	37	CCDS42567.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.966635	0.34659	0.0	4.65E-4	ENSG00000183709	ENST00000331982	.	.	.	3.43	-0.385	0.12470	.	1.521050	0.03997	N	0.295834	.	.	.	.	.	.	0.31501	N	0.664808	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.5153	3.8264	0.08856	0.4234:0.4526:0.0:0.124	.	.	.	.	X	188	.	ENSP00000333639:R188X	R	+	1	2	IL28A	44452452	0.000000	0.05858	0.016000	0.15963	0.002000	0.02628	-1.115000	0.03289	0.270000	0.21984	0.580000	0.79431	CGA		0.547	IFNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463833.1	NM_172138	
PLEKHA4	57664	hgsc.bcm.edu	37	19	49342500	49342500	+	Silent	SNP	T	T	C			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr19:49342500T>C	ENST00000263265.6	-	18	2481	c.1926A>G	c.(1924-1926)ggA>ggG	p.G642G	HSD17B14_ENST00000599157.1_5'Flank|PLEKHA4_ENST00000355496.5_Intron|HSD17B14_ENST00000263278.4_5'Flank	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	642						cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		ATTTCTGGGCTCCCGAGTGTC	0.527																																																	0			19											56.0	51.0	53.0					19																	49342500		2203	4300	6503	54034312	SO:0001819	synonymous_variant	57664			AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"""Pleckstrin homology (PH) domain containing"""	14339	protein-coding gene	gene with protein product		607769	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"""			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.1926A>G	19.37:g.49342500T>C			54034312	Q8N4M8|Q8N658	Silent	SNP	ENST00000263265.6	37	CCDS12737.1																																																																																				0.527	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1		
PRKCG	5582	hgsc.bcm.edu	37	19	54395020	54395020	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr19:54395020A>G	ENST00000263431.3	+	6	904	c.622A>G	c.(622-624)Acg>Gcg	p.T208A	PRKCG_ENST00000542049.1_Missense_Mutation_p.T95A|PRKCG_ENST00000536044.1_Missense_Mutation_p.T208A|PRKCG_ENST00000540413.1_Missense_Mutation_p.T208A	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	208	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	TCGGAACCTGACGAAACAGAA	0.527																																																	0			19											142.0	116.0	125.0					19																	54395020		2203	4300	6503	59086832	SO:0001583	missense	5582			M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.622A>G	19.37:g.54395020A>G	ENSP00000263431:p.Thr208Ala		59086832	B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	A	17.45	3.392993	0.62066	.	.	ENSG00000126583	ENST00000536044;ENST00000540413;ENST00000263431;ENST00000542049	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	5.25	5.25	0.73442	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	T	0.56187	0.1968	L	0.38838	1.175	0.45035	D	0.998055	B;B;B;B;B	0.18013	0.025;0.004;0.003;0.002;0.0	B;B;B;B;B	0.24701	0.055;0.027;0.014;0.007;0.006	T	0.51172	-0.8739	9	0.16420	T	0.52	.	13.4075	0.60922	1.0:0.0:0.0:0.0	.	95;208;208;208;208	B7Z8Q0;F5H5C4;B7Z870;B7Z3W6;P05129	.;.;.;.;KPCG_HUMAN	A	208;208;208;95	ENSP00000440541:T208A;ENSP00000443493:T208A;ENSP00000263431:T208A;ENSP00000438090:T95A	ENSP00000263431:T208A	T	+	1	0	PRKCG	59086832	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.608000	0.67654	2.124000	0.65301	0.459000	0.35465	ACG		0.527	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739	
CNOT3	4849	hgsc.bcm.edu	37	19	54657465	54657465	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr19:54657465A>G	ENST00000406403.1	+	16	3654	c.2051A>G	c.(2050-2052)cAg>cGg	p.Q684R	CNOT3_ENST00000496327.1_3'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.Q684R			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	684	Repressor domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					ACTAAGGCACAGTATCTGGCA	0.597																																																	0			19											124.0	96.0	106.0					19																	54657465		2203	4300	6503	59349277	SO:0001583	missense	4849			AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.2051A>G	19.37:g.54657465A>G	ENSP00000383954:p.Gln684Arg		59349277	Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	37	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.109584	0.77096	.	.	ENSG00000088038	ENST00000221232;ENST00000406403;ENST00000471126	T;T;T	0.59224	0.28;0.28;0.28	4.14	4.14	0.48551	NOT2/NOT3/NOT5 (1);	0.071575	0.64402	N	0.000017	T	0.80076	0.4557	M	0.94021	3.485	0.80722	D	1	D	0.59357	0.985	D	0.71414	0.973	D	0.83992	0.0338	10	0.48119	T	0.1	-15.9521	12.9889	0.58608	1.0:0.0:0.0:0.0	.	684	O75175	CNOT3_HUMAN	R	684;684;2	ENSP00000221232:Q684R;ENSP00000383954:Q684R;ENSP00000420064:Q2R	ENSP00000221232:Q684R	Q	+	2	0	CNOT3	59349277	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	8.763000	0.91715	1.869000	0.54173	0.449000	0.29647	CAG		0.597	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516	
TNNI3	7137	hgsc.bcm.edu	37	19	55665544	55665544	+	Missense_Mutation	SNP	G	G	T			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr19:55665544G>T	ENST00000344887.5	-	7	545	c.403C>A	c.(403-405)Ctt>Att	p.L135I	TNNI3_ENST00000588882.1_Missense_Mutation_p.L110I|TNNI3_ENST00000590463.1_5'Flank	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	135	Involved in binding TNC and actin.				cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|heart contraction (GO:0060047)|heart development (GO:0007507)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|regulation of smooth muscle contraction (GO:0006940)|regulation of systemic arterial blood pressure by ischemic conditions (GO:0001980)|vasculogenesis (GO:0001570)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|troponin complex (GO:0005861)	actin binding (GO:0003779)|calcium channel inhibitor activity (GO:0019855)|calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|troponin C binding (GO:0030172)|troponin T binding (GO:0031014)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		TTGCCTCGAAGGTCAAAGATC	0.582																																																	0			19											46.0	51.0	50.0					19																	55665544		2008	4155	6163	60357356	SO:0001583	missense	7137			M64247	CCDS42628.1	19q13.4	2014-09-17	2005-09-12			ENSG00000129991			11947	protein-coding gene	gene with protein product		191044	"""troponin I, cardiac"", ""cardiomyopathy, dilated 2A (autosomal recessive)"""	CMD2A		9605869, 9241277, 10806205	Standard	NM_000363		Approved	TNNC1, CMH7	uc002qjg.4	P19429		ENST00000344887.5:c.403C>A	19.37:g.55665544G>T	ENSP00000341838:p.Leu135Ile		60357356		Missense_Mutation	SNP	ENST00000344887.5	37	CCDS42628.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.320072	0.60634	.	.	ENSG00000129991	ENST00000344887	D	0.95307	-3.67	4.72	4.72	0.59763	.	0.000000	0.53938	D	0.000047	D	0.96629	0.8900	M	0.81497	2.545	0.58432	D	0.999991	P	0.39717	0.684	P	0.53518	0.728	D	0.97273	0.9912	10	0.66056	D	0.02	-21.9619	16.8019	0.85616	0.0:0.0:1.0:0.0	.	135	P19429	TNNI3_HUMAN	I	135	ENSP00000341838:L135I	ENSP00000341838:L135I	L	-	1	0	TNNI3	60357356	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.449000	0.73473	2.333000	0.79357	0.585000	0.79938	CTT		0.582	TNNI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452098.1		
TEX15	56154	hgsc.bcm.edu	37	8	30699868	30699868	+	Silent	SNP	A	A	G			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr8:30699868A>G	ENST00000256246.2	-	1	6740	c.6666T>C	c.(6664-6666)gaT>gaC	p.D2222D		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2222					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTTTTCCTAAATCTTTCCTAG	0.343																																																	0			8											86.0	86.0	86.0					8																	30699868		2203	4298	6501	30819410	SO:0001819	synonymous_variant	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.6666T>C	8.37:g.30699868A>G			30819410		Silent	SNP	ENST00000256246.2	37	CCDS6080.1																																																																																				0.343	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1		
FGFR1	2260	hgsc.bcm.edu	37	8	38272133	38272133	+	Silent	SNP	C	C	T			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr8:38272133C>T	ENST00000447712.2	-	15	2933	c.1992G>A	c.(1990-1992)gtG>gtA	p.V664V	FGFR1_ENST00000425967.3_Silent_p.V695V|FGFR1_ENST00000326324.6_Silent_p.V573V|FGFR1_ENST00000335922.5_Silent_p.V654V|FGFR1_ENST00000397091.5_Silent_p.V662V|FGFR1_ENST00000397103.1_Silent_p.V575V|FGFR1_ENST00000532791.1_Silent_p.V662V|FGFR1_ENST00000356207.5_Silent_p.V575V|FGFR1_ENST00000341462.5_Silent_p.V664V|FGFR1_ENST00000397113.2_Silent_p.V662V|FGFR1_ENST00000397108.4_Silent_p.V662V	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	664	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> L (in a lung large cell carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CCATCCACTTCACAGGCAGTC	0.587		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""																														Melanoma(146;1153 1840 21453 21841 43625)			Dom	yes		8	8p11.2-p11.1	2260	fibroblast growth factor receptor 1	yes	L	0			8											57.0	60.0	59.0					8																	38272133		2092	4269	6361	38391290	SO:0001819	synonymous_variant	2260			M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3688	protein-coding gene	gene with protein product	"""Pfeiffer syndrome"""	136350	"""fms-related tyrosine kinase 2"""	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.1992G>A	8.37:g.38272133C>T			38391290	A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Silent	SNP	ENST00000447712.2	37	CCDS6107.2																																																																																				0.587	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
OPRK1	4986	hgsc.bcm.edu	37	8	54147372	54147372	+	Missense_Mutation	SNP	G	G	A	rs143457105		TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr8:54147372G>A	ENST00000265572.3	-	3	854	c.557C>T	c.(556-558)tCg>tTg	p.S186L	OPRK1_ENST00000520287.1_Missense_Mutation_p.S186L|OPRK1_ENST00000524278.1_Missense_Mutation_p.S97L|RP11-162D9.3_ENST00000524425.1_RNA	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	186					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)	p.S186L(1)		NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	AACAGATGACGACAGCAGCCA	0.483																																																	1	Substitution - Missense(1)	skin(1)	8						G	LEU/SER	0,4406		0,0,2203	113.0	103.0	106.0		557	5.7	1.0	8	dbSNP_134	106	2,8598	2.2+/-6.3	0,2,4298	no	missense	OPRK1	NM_000912.3	145	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	186/381	54147372	2,13004	2203	4300	6503	54309925	SO:0001583	missense	4986				CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"""GPCR / Class A : Opioid receptors"""	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.557C>T	8.37:g.54147372G>A	ENSP00000265572:p.Ser186Leu		54309925	E5RHC9|Q499G4	Missense_Mutation	SNP	ENST00000265572.3	37	CCDS6152.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.898286	0.91962	0.0	2.33E-4	ENSG00000082556	ENST00000265572;ENST00000524278;ENST00000520287;ENST00000396798	T;T;T	0.46819	0.86;0.86;0.86	5.66	5.66	0.87406	GPCR, rhodopsin-like superfamily (1);	0.053050	0.85682	D	0.000000	T	0.73305	0.3570	H	0.94264	3.515	0.80722	D	1	P	0.52842	0.956	P	0.52823	0.71	T	0.81357	-0.0969	10	0.87932	D	0	.	20.0961	0.97843	0.0:0.0:1.0:0.0	.	186	P41145	OPRK_HUMAN	L	186;97;186;172	ENSP00000265572:S186L;ENSP00000430923:S97L;ENSP00000429706:S186L	ENSP00000265572:S186L	S	-	2	0	OPRK1	54309925	1.000000	0.71417	0.999000	0.59377	0.696000	0.40369	9.711000	0.98735	2.813000	0.96785	0.655000	0.94253	TCG		0.483	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1		
PKHD1L1	93035	hgsc.bcm.edu	37	8	110457743	110457743	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr8:110457743G>A	ENST00000378402.5	+	38	5749	c.5645G>A	c.(5644-5646)tGc>tAc	p.C1882Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1882	IPT/TIG 11.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.C1884Y(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GAAGTCTACTGCCGCACTCCC	0.438										HNSCC(38;0.096)																																							1	Substitution - Missense(1)	ovary(1)	8											48.0	48.0	48.0					8																	110457743		1918	4142	6060	110526919	SO:0001583	missense	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5645G>A	8.37:g.110457743G>A	ENSP00000367655:p.Cys1882Tyr		110526919	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967065	0.53507	.	.	ENSG00000205038	ENST00000378402	D	0.83163	-1.69	5.91	5.91	0.95273	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94476	0.8222	H	0.96633	3.855	0.50632	D	0.999887	D	0.89917	1.0	D	0.97110	1.0	D	0.95736	0.8779	10	0.87932	D	0	.	17.7921	0.88555	0.0:0.0:1.0:0.0	.	1882	Q86WI1	PKHL1_HUMAN	Y	1882	ENSP00000367655:C1882Y	ENSP00000367655:C1882Y	C	+	2	0	PKHD1L1	110526919	1.000000	0.71417	0.523000	0.27875	0.129000	0.20672	7.560000	0.82277	2.802000	0.96397	0.655000	0.94253	TGC		0.438	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	
TG	7038	hgsc.bcm.edu	37	8	133925352	133925352	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr8:133925352C>T	ENST00000220616.4	+	20	4260	c.4220C>T	c.(4219-4221)tCa>tTa	p.S1407L	TG_ENST00000377869.1_Missense_Mutation_p.S1407L	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1407					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.S1407L(1)|p.S1407*(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CAGAGTGGCTCATTCCAGCTT	0.557																																																	2	Substitution - Nonsense(1)|Substitution - Missense(1)	breast(1)|skin(1)	8											112.0	94.0	100.0					8																	133925352		2203	4300	6503	133994534	SO:0001583	missense	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4220C>T	8.37:g.133925352C>T	ENSP00000220616:p.Ser1407Leu		133994534	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	C	7.805	0.714420	0.15306	.	.	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616	T;T	0.63744	-0.06;-0.05	5.81	-11.2	0.00127	.	5.257790	0.00166	N	0.000008	T	0.37945	0.1022	N	0.14661	0.345	0.09310	N	1	B	0.23806	0.091	B	0.16722	0.016	T	0.21245	-1.0251	10	0.40728	T	0.16	.	7.809	0.29219	0.5717:0.0974:0.2702:0.0607	.	1407	P01266	THYG_HUMAN	L	1407;213;1407	ENSP00000367100:S1407L;ENSP00000220616:S1407L	ENSP00000220616:S1407L	S	+	2	0	TG	133994534	0.000000	0.05858	0.000000	0.03702	0.381000	0.30169	-1.940000	0.01543	-2.244000	0.00706	-0.873000	0.02984	TCA		0.557	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	
EXOSC4	54512	hgsc.bcm.edu	37	8	145134985	145134985	+	Missense_Mutation	SNP	G	G	A	rs201630396		TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr8:145134985G>A	ENST00000316052.5	+	2	414	c.311G>A	c.(310-312)cGc>cAc	p.R104H	EXOSC4_ENST00000525936.1_Intron|GPAA1_ENST00000355091.4_5'Flank|GPAA1_ENST00000361036.6_5'Flank|CTD-3065J16.9_ENST00000524499.1_RNA	NM_019037.2	NP_061910.1	Q9NPD3	EXOS4_HUMAN	exosome component 4	104					defense response to virus (GO:0051607)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)			lung(4)|prostate(1)|upper_aerodigestive_tract(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGCAGCTCCGCCAGACTTTC	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		20906	0.001		0.0	False		,,,				2504	0.0																0			8											64.0	54.0	57.0					8																	145134985		2203	4300	6503	145206973	SO:0001583	missense	54512			AF281133	CCDS6414.1	8q24.3	2004-03-26			ENSG00000178896	ENSG00000178896			18189	protein-coding gene	gene with protein product	"""exosome component Rrp41"""	606491				11110791	Standard	NM_019037		Approved	hRrp41p, FLJ20591, Rrp41p, RRP41, RRP41A, Ski6p, SKI6, p12A	uc003zau.3	Q9NPD3	OTTHUMG00000165437	ENST00000316052.5:c.311G>A	8.37:g.145134985G>A	ENSP00000315476:p.Arg104His		145206973		Missense_Mutation	SNP	ENST00000316052.5	37	CCDS6414.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	24.4	4.527131	0.85706	.	.	ENSG00000178896	ENST00000316052;ENST00000527954	T;T	0.62232	0.04;0.04	5.05	4.17	0.49024	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.113654	0.56097	D	0.000027	T	0.72606	0.3481	M	0.78223	2.4	0.80722	D	1	D	0.71674	0.998	P	0.61201	0.885	T	0.75167	-0.3413	10	0.72032	D	0.01	-21.4364	6.7988	0.23740	0.1954:0.0:0.8046:0.0	.	104	Q9NPD3	EXOS4_HUMAN	H	104;127	ENSP00000315476:R104H;ENSP00000436539:R127H	ENSP00000315476:R104H	R	+	2	0	EXOSC4	145206973	1.000000	0.71417	0.976000	0.42696	0.961000	0.63080	5.720000	0.68470	2.345000	0.79718	0.561000	0.74099	CGC		0.577	EXOSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384065.1	NM_019037	
ZNF16	7564	hgsc.bcm.edu	37	8	146157290	146157290	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr8:146157290A>G	ENST00000276816.4	-	4	1069	c.883T>C	c.(883-885)Tgt>Cgt	p.C295R	ZNF16_ENST00000394909.2_Missense_Mutation_p.C295R	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	295	Required for nuclear localization.				cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		CATTCATTACACATATAAGGC	0.468																																																	0			8											86.0	85.0	85.0					8																	146157290		2203	4300	6503	146128094	SO:0001583	missense	7564			X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"""Zinc fingers, C2H2-type"""	12947	protein-coding gene	gene with protein product		601262	"""zinc finger protein 16 (KOX 9)"""				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.883T>C	8.37:g.146157290A>G	ENSP00000276816:p.Cys295Arg		146128094	B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Missense_Mutation	SNP	ENST00000276816.4	37	CCDS6437.1	.	.	.	.	.	.	.	.	.	.	A	12.04	1.817876	0.32145	.	.	ENSG00000170631	ENST00000276816;ENST00000394909	D;D	0.85258	-1.96;-1.96	4.02	4.02	0.46733	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.95385	0.8502	H	0.99347	4.525	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.96323	0.9238	9	0.87932	D	0	.	12.0541	0.53524	1.0:0.0:0.0:0.0	.	295	P17020	ZNF16_HUMAN	R	295	ENSP00000276816:C295R;ENSP00000378369:C295R	ENSP00000276816:C295R	C	-	1	0	ZNF16	146128094	1.000000	0.71417	0.067000	0.19924	0.026000	0.11368	6.246000	0.72405	1.671000	0.50874	0.460000	0.39030	TGT		0.468	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382978.1	NM_006958	
GPR157	80045	hgsc.bcm.edu	37	1	9165617	9165617	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr1:9165617C>T	ENST00000377411.4	-	3	862	c.720G>A	c.(718-720)tgG>tgA	p.W240*	GPR157_ENST00000414642.2_Intron	NM_024980.4	NP_079256.4	Q5UAW9	GP157_HUMAN	G protein-coupled receptor 157	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			lung(4)|prostate(1)	5	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)		GCACGGTGCTCCAGACCCTGA	0.667																																																	0			1											54.0	54.0	54.0					1																	9165617		2202	4300	6502	9088204	SO:0001587	stop_gained	80045			AK022194	CCDS100.2	1p36.22	2012-08-21			ENSG00000180758	ENSG00000180758		"""GPCR / Class B : Orphans"""	23687	protein-coding gene	gene with protein product						10574461	Standard	XM_005263496		Approved	FLJ12132	uc001apq.1	Q5UAW9	OTTHUMG00000001758	ENST00000377411.4:c.720G>A	1.37:g.9165617C>T	ENSP00000366628:p.Trp240*		9088204	A2A334|Q8WWB8|Q9HA73	Nonsense_Mutation	SNP	ENST00000377411.4	37	CCDS100.2	.	.	.	.	.	.	.	.	.	.	C	38	6.733754	0.97796	.	.	ENSG00000180758	ENST00000377411	.	.	.	4.67	4.67	0.58626	.	0.110778	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.1932	17.0013	0.86382	0.0:1.0:0.0:0.0	.	.	.	.	X	240	.	ENSP00000366628:W240X	W	-	3	0	GPR157	9088204	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.898000	0.75676	2.314000	0.78098	0.549000	0.68633	TGG		0.667	GPR157-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127658.2	NM_024980	
MACF1	23499	hgsc.bcm.edu	37	1	39797858	39797858	+	Silent	SNP	A	A	G			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr1:39797858A>G	ENST00000372915.3	+	36	5700	c.5613A>G	c.(5611-5613)ctA>ctG	p.L1871L	MACF1_ENST00000564288.1_Silent_p.L1866L|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Silent_p.L306L|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Silent_p.L1903L|MACF1_ENST00000476350.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1871					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.L306L(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGATGCCCTAGAACAAGGTA	0.458																																																	1	Substitution - coding silent(1)	lung(1)	1											103.0	104.0	104.0					1																	39797858		2203	4300	6503	39570445	SO:0001819	synonymous_variant	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.5613A>G	1.37:g.39797858A>G			39570445	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37																																																																																					0.458	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
IVL	3713	hgsc.bcm.edu	37	1	152882801	152882801	+	Silent	SNP	G	G	A	rs11205136	byFrequency	TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr1:152882801G>A	ENST00000368764.3	+	2	592	c.528G>A	c.(526-528)ccG>ccA	p.P176P	IVL_ENST00000392667.2_Silent_p.P30P			P07476	INVO_HUMAN	involucrin	176	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)	p.P176P(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			tgaagcacccggagcagcagg	0.642													A|||	36	0.0071885	0.0008	0.0173	5008	,	,		16414	0.0		0.0179	False		,,,				2504	0.0051																1	Substitution - coding silent(1)	ovary(1)	1																																								151149425	SO:0001819	synonymous_variant	3713			BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.528G>A	1.37:g.152882801G>A			151149425	Q5T7P4	Silent	SNP	ENST00000368764.3	37	CCDS1030.1																																																																																				0.642	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1	NM_005547	
PTPN14	5784	hgsc.bcm.edu	37	1	214549632	214549632	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr1:214549632T>C	ENST00000366956.5	-	15	3031	c.2837A>G	c.(2836-2838)gAg>gGg	p.E946G	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	946	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TCGATTCTCCTCATAGGGGAC	0.463																																					Colon(92;557 1424 24372 34121 40073)												0			1											184.0	177.0	180.0					1																	214549632		2203	4300	6503	212616255	SO:0001583	missense	5784			X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.2837A>G	1.37:g.214549632T>C	ENSP00000355923:p.Glu946Gly		212616255	Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.846616	0.91277	.	.	ENSG00000152104	ENST00000366956	D	0.85171	-1.95	5.29	5.29	0.74685	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.93552	0.7942	M	0.89968	3.075	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94837	0.8001	10	0.87932	D	0	.	15.2459	0.73507	0.0:0.0:0.0:1.0	.	946	Q15678	PTN14_HUMAN	G	946	ENSP00000355923:E946G	ENSP00000355923:E946G	E	-	2	0	PTPN14	212616255	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	7.919000	0.87513	1.998000	0.58463	0.533000	0.62120	GAG		0.463	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401	
TARBP1	6894	hgsc.bcm.edu	37	1	234565357	234565357	+	Silent	SNP	T	T	C			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr1:234565357T>C	ENST00000040877.1	-	16	2675	c.2676A>G	c.(2674-2676)caA>caG	p.Q892Q		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	892					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GGCACACCCATTGATCATGAA	0.393																																																	0			1											98.0	98.0	98.0					1																	234565357		2203	4300	6503	232631980	SO:0001819	synonymous_variant	6894				CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.2676A>G	1.37:g.234565357T>C			232631980	Q9H581	Silent	SNP	ENST00000040877.1	37	CCDS1601.1																																																																																				0.393	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646	
RYR2	6262	hgsc.bcm.edu	37	1	237837513	237837513	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr1:237837513T>C	ENST00000366574.2	+	59	9025	c.8708T>C	c.(8707-8709)gTa>gCa	p.V2903A	RYR2_ENST00000542537.1_Missense_Mutation_p.V2887A|RYR2_ENST00000360064.6_Missense_Mutation_p.V2901A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2903	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGATATGCTGTATCCAGGTAA	0.378																																																	0			1											76.0	74.0	75.0					1																	237837513		1926	4135	6061	235904136	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.8708T>C	1.37:g.237837513T>C	ENSP00000355533:p.Val2903Ala		235904136	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	19.38	3.816842	0.70912	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.92858	-3.12;-3.12;-3.12	5.17	5.17	0.71159	Ryanodine receptor Ryr (1);	0.000000	0.53938	D	0.000041	D	0.93051	0.7788	M	0.83603	2.65	0.80722	D	1	B	0.18741	0.03	B	0.29862	0.108	D	0.91760	0.5419	10	0.87932	D	0	.	15.0129	0.71562	0.0:0.0:0.0:1.0	.	2903	Q92736	RYR2_HUMAN	A	2903;2901;2887	ENSP00000355533:V2903A;ENSP00000353174:V2901A;ENSP00000443798:V2887A	ENSP00000353174:V2901A	V	+	2	0	RYR2	235904136	1.000000	0.71417	0.996000	0.52242	0.958000	0.62258	7.945000	0.87732	1.948000	0.56530	0.455000	0.32223	GTA		0.378	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
CHML	1122	hgsc.bcm.edu	37	1	241797768	241797768	+	Missense_Mutation	SNP	A	A	C			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr1:241797768A>C	ENST00000366553.1	-	1	1464	c.1301T>G	c.(1300-1302)tTt>tGt	p.F434C	OPN3_ENST00000366554.2_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	434					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TTCCACAATAAAATATTTAGC	0.353																																																	0			1											80.0	84.0	83.0					1																	241797768		2203	4299	6502	239864391	SO:0001583	missense	1122			X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.1301T>G	1.37:g.241797768A>C	ENSP00000355511:p.Phe434Cys		239864391	B2RAB9|Q17RE0|Q9H1Y4	Missense_Mutation	SNP	ENST00000366553.1	37	CCDS31073.1	.	.	.	.	.	.	.	.	.	.	A	16.74	3.206866	0.58343	.	.	ENSG00000203668	ENST00000366553	T	0.59224	0.28	4.93	4.93	0.64822	.	0.116646	0.64402	U	0.000012	T	0.75140	0.3809	.	.	.	0.49798	D	0.999827	D	0.89917	1.0	D	0.87578	0.998	T	0.78695	-0.2104	9	0.87932	D	0	-14.5002	12.8833	0.58030	1.0:0.0:0.0:0.0	.	434	P26374	RAE2_HUMAN	C	434	ENSP00000355511:F434C	ENSP00000355511:F434C	F	-	2	0	CHML	239864391	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.159000	0.71856	2.218000	0.71995	0.533000	0.62120	TTT		0.353	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	NM_001821	
OR2L2	26246	hgsc.bcm.edu	37	1	248201931	248201931	+	Missense_Mutation	SNP	G	G	A	rs144606855	byFrequency	TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr1:248201931G>A	ENST00000366479.2	+	1	458	c.362G>A	c.(361-363)cGt>cAt	p.R121H	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GCCTATGATCGTTATGTGGCC	0.433													g|||	74	0.0147764	0.0552	0.0014	5008	,	,		22925	0.0		0.0	False		,,,				2504	0.0																0			1						G	HIS/ARG,	194,4212		3,188,2012	158.0	139.0	145.0		362,	-1.8	0.0	1	dbSNP_134	145	1,8599		0,1,4299	no	missense,intron	OR2L2,OR2L13	NM_001004686.2,NM_175911.2	29,	3,189,6311	AA,AG,GG		0.0116,4.4031,1.4993	benign,	121/313,	248201931	195,12811	2203	4300	6503	246268554	SO:0001583	missense	26246			X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.362G>A	1.37:g.248201931G>A	ENSP00000355435:p.Arg121His		246268554	Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	CCDS31103.1	26	0.011904761904761904	26	0.052845528455284556	0	0.0	0	0.0	0	0.0	.	12.37	1.917347	0.33815	0.044031	1.16E-4	ENSG00000203663	ENST00000366479	T	0.77489	-1.1	1.9	-1.77	0.07982	GPCR, rhodopsin-like superfamily (1);	0.540487	0.13896	N	0.355267	T	0.35038	0.0918	M	0.87900	2.915	0.20307	N	0.999914	P	0.37955	0.612	B	0.31290	0.127	T	0.56086	-0.8037	10	0.62326	D	0.03	.	7.2486	0.26135	0.3467:0.0:0.6533:0.0	.	121	Q8NH16	OR2L2_HUMAN	H	121	ENSP00000355435:R121H	ENSP00000355435:R121H	R	+	2	0	OR2L2	246268554	0.723000	0.28027	0.042000	0.18584	0.309000	0.27889	4.115000	0.57865	-0.405000	0.07599	0.194000	0.17425	CGT		0.433	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686	
OR56A4	120793	hgsc.bcm.edu	37	11	6024308	6024308	+	Missense_Mutation	SNP	G	G	A	rs116472611	byFrequency	TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr11:6024308G>A	ENST00000330728.4	-	1	116	c.71C>T	c.(70-72)aCg>aTg	p.T24M		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	0						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATTCTAGACGTAGTAGAGTG	0.393													.|||	22	0.00439297	0.003	0.0	5008	,	,		18639	0.0		0.0	False		,,,				2504	0.0184																0			11						G	MET/THR	12,4390	19.1+/-41.9	0,12,2189	118.0	128.0	125.0		71	-5.5	0.0	11	dbSNP_132	125	1,8591	1.2+/-3.3	0,1,4295	yes	missense	OR56A4	NM_001005179.2	81	0,13,6484	AA,AG,GG		0.0116,0.2726,0.1	benign	24/366	6024308	13,12981	2201	4296	6497	5980884	SO:0001583	missense	120793			BK004255	CCDS31404.1	11p15.4	2012-08-09			ENSG00000183389	ENSG00000183389		"""GPCR / Class A : Olfactory receptors"""	14791	protein-coding gene	gene with protein product							Standard	NM_001005179		Approved		uc010qzv.2	Q8NGH8	OTTHUMG00000165376	ENST00000330728.4:c.71C>T	11.37:g.6024308G>A	ENSP00000328215:p.Thr24Met		5980884	B9EH17	Missense_Mutation	SNP	ENST00000330728.4	37	CCDS31404.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	11.16	1.557533	0.27827	0.002726	1.16E-4	ENSG00000183389	ENST00000330728	T	0.00608	6.25	3.36	-5.49	0.02584	.	.	.	.	.	T	0.00412	0.0013	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.46176	-0.9210	7	0.87932	D	0	.	8.4005	0.32583	0.6121:0.114:0.2738:0.0	.	.	.	.	M	24	ENSP00000328215:T24M	ENSP00000328215:T24M	T	-	2	0	OR56A4	5980884	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.447000	0.02396	-1.503000	0.01812	-1.164000	0.01763	ACG		0.393	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383756.2	NM_001005179	
LDHA	3939	hgsc.bcm.edu	37	11	18424398	18424398	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr11:18424398A>G	ENST00000422447.3	+	5	703	c.430A>G	c.(430-432)Acc>Gcc	p.T144A	LDHA_ENST00000540430.1_Missense_Mutation_p.T173A|LDHA_ENST00000396222.2_Missense_Mutation_p.T144A|LDHA_ENST00000379412.5_Missense_Mutation_p.T144A|AC084117.3_ENST00000496975.2_RNA|LDHA_ENST00000542179.1_Missense_Mutation_p.T144A|LDHA_ENST00000227157.4_Missense_Mutation_p.T144A|LDHA_ENST00000430553.2_Missense_Mutation_p.T86A	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN	lactate dehydrogenase A	144					cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|cellular response to extracellular stimulus (GO:0031668)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	L-lactate dehydrogenase activity (GO:0004459)			central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12						GGATATCTTGACCTACGTGGC	0.403																																																	0			11											154.0	151.0	152.0					11																	18424398		2199	4293	6492	18380974	SO:0001583	missense	3939			X02152	CCDS7839.1, CCDS44549.1, CCDS53609.1, CCDS53610.1, CCDS53611.1	11p15.1	2012-10-02			ENSG00000134333	ENSG00000134333	1.1.1.27		6535	protein-coding gene	gene with protein product		150000				3000353	Standard	NM_005566		Approved		uc010rdd.2	P00338	OTTHUMG00000167721	ENST00000422447.3:c.430A>G	11.37:g.18424398A>G	ENSP00000395337:p.Thr144Ala		18380974	B4DKQ2|B7Z5E3|D3DQY3|F8W819|Q53G53|Q6IBM7|Q6ZNV1|Q9UDE8|Q9UDE9	Missense_Mutation	SNP	ENST00000422447.3	37	CCDS7839.1	.	.	.	.	.	.	.	.	.	.	A	18.97	3.735880	0.69189	.	.	ENSG00000134333	ENST00000422447;ENST00000543445;ENST00000430553;ENST00000396222;ENST00000541620;ENST00000445376;ENST00000227157;ENST00000540430;ENST00000379412;ENST00000542179	D;D;D;D;D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97;-2.97;-2.97;-2.97;-2.97	5.35	5.35	0.76521	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.94679	0.8284	M	0.77486	2.375	0.80722	D	1	B;B;B;B;B	0.33841	0.256;0.118;0.373;0.428;0.153	B;B;P;B;B	0.47827	0.295;0.157;0.558;0.195;0.221	D	0.94959	0.8106	10	0.87932	D	0	-3.8613	15.79	0.78350	1.0:0.0:0.0:0.0	.	173;86;117;144;144	B7Z5E3;B4DKQ2;B4DJI1;F8W819;P00338	.;.;.;.;LDHA_HUMAN	A	144;144;86;144;116;117;144;173;144;144	ENSP00000395337:T144A;ENSP00000440161:T144A;ENSP00000406172:T86A;ENSP00000379524:T144A;ENSP00000227157:T144A;ENSP00000445175:T173A;ENSP00000368722:T144A;ENSP00000445331:T144A	ENSP00000227157:T144A	T	+	1	0	LDHA	18380974	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.930000	0.92872	2.371000	0.80710	0.533000	0.62120	ACC		0.403	LDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258172.2	NM_005566	
FOSL1	8061	hgsc.bcm.edu	37	11	65661581	65661581	+	Silent	SNP	C	C	T			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr11:65661581C>T	ENST00000312562.2	-	3	495	c.309G>A	c.(307-309)gaG>gaA	p.E103E	FOSL1_ENST00000448083.2_Intron|FOSL1_ENST00000531493.1_Intron|FOSL1_ENST00000532401.1_Missense_Mutation_p.G102R	NM_005438.3	NP_005429.1	P15407	FOSL1_HUMAN	FOS-like antigen 1	103	Poly-Glu.				cellular defense response (GO:0006968)|cellular response to extracellular stimulus (GO:0031668)|chemotaxis (GO:0006935)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gravity (GO:0009629)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to virus (GO:0009615)|transcription from RNA polymerase II promoter (GO:0006366)|vitellogenesis (GO:0007296)	cytosol (GO:0005829)|neuron projection (GO:0043005)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	10				READ - Rectum adenocarcinoma(159;0.168)		GCTCCTCTTCCTCCGGGCTGA	0.667																																																	0			11											26.0	24.0	24.0					11																	65661581		2201	4295	6496	65418157	SO:0001819	synonymous_variant	8061			BC016648	CCDS8121.1, CCDS73324.1	11q13	2013-01-10			ENSG00000175592	ENSG00000175592		"""basic leucine zipper proteins"""	13718	protein-coding gene	gene with protein product		136515				2107490	Standard	XM_005274311		Approved	fra-1	uc001ogg.1	P15407	OTTHUMG00000166715	ENST00000312562.2:c.309G>A	11.37:g.65661581C>T			65418157	B4DR11|Q6FG51	Silent	SNP	ENST00000312562.2	37	CCDS8121.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.853516	0.51270	.	.	ENSG00000175592	ENST00000532401	.	.	.	4.13	3.21	0.36854	.	.	.	.	.	T	0.50973	0.1647	.	.	.	0.28274	N	0.924293	.	.	.	.	.	.	T	0.50092	-0.8868	5	0.87932	D	0	-21.0119	9.7634	0.40545	0.0:0.8971:0.0:0.1029	.	.	.	.	R	102	.	ENSP00000431594:G102R	G	-	1	0	FOSL1	65418157	1.000000	0.71417	0.998000	0.56505	0.505000	0.33919	2.016000	0.40971	1.097000	0.41459	0.557000	0.71058	GGA		0.667	FOSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391168.2	NM_005438	
SYT12	91683	hgsc.bcm.edu	37	11	66812174	66812174	+	Silent	SNP	G	G	A			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr11:66812174G>A	ENST00000393946.2	+	9	2110	c.948G>A	c.(946-948)aaG>aaA	p.K316K	SYT12_ENST00000525457.1_Silent_p.K316K|SYT12_ENST00000527043.1_Silent_p.K316K			Q8IV01	SYT12_HUMAN	synaptotagmin XII	316	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|synapse (GO:0045202)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						CCAACGACAAGACCACAGCGG	0.657																																					Ovarian(65;2862 3307)												0			11											96.0	81.0	86.0					11																	66812174		2200	4295	6495	66568750	SO:0001819	synonymous_variant	91683			AK024280	CCDS8154.1	11q13.2	2014-07-02			ENSG00000173227	ENSG00000173227		"""Synaptotagmins"""	18381	protein-coding gene	gene with protein product		606436				8987811	Standard	NM_177963		Approved	SRG1	uc001oju.3	Q8IV01	OTTHUMG00000167101	ENST00000393946.2:c.948G>A	11.37:g.66812174G>A			66568750		Silent	SNP	ENST00000393946.2	37	CCDS8154.1																																																																																				0.657	SYT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393129.1	NM_177963	
SHANK2	22941	hgsc.bcm.edu	37	11	70332477	70332477	+	Silent	SNP	C	C	T			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr11:70332477C>T	ENST00000423696.2	-	15	2820	c.2784G>A	c.(2782-2784)caG>caA	p.Q928Q	SHANK2_ENST00000449833.2_Silent_p.Q712Q|SHANK2_ENST00000338508.4_Silent_p.Q1308Q|SHANK2_ENST00000409161.1_Silent_p.Q711Q			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	928					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CCGACTTCTGCTGGGACGTGT	0.597																																																	0			11											125.0	112.0	116.0					11																	70332477		2200	4294	6494	70010125	SO:0001819	synonymous_variant	22941			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2784G>A	11.37:g.70332477C>T			70010125	C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37																																																																																					0.597	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309	
KRTAP5-10	387273	hgsc.bcm.edu	37	11	71276909	71276909	+	Silent	SNP	G	G	A	rs71272260|rs12289712	byFrequency	TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr11:71276909G>A	ENST00000398531.1	+	1	301	c.276G>A	c.(274-276)ggG>ggA	p.G92G	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	92	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GCTCCAAGGGGGGCTGTGGCT	0.677																																																	0			11											35.0	54.0	47.0					11																	71276909		2068	4190	6258	70954557	SO:0001819	synonymous_variant	387273			AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"""Keratin associated proteins"""	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.276G>A	11.37:g.71276909G>A			70954557	B9EHA4	Silent	SNP	ENST00000398531.1	37	CCDS41684.1																																																																																				0.677	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2		
P4HA3	283208	hgsc.bcm.edu	37	11	74015396	74015396	+	Missense_Mutation	SNP	G	G	C			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr11:74015396G>C	ENST00000331597.4	-	2	307	c.262C>G	c.(262-264)Ctt>Gtt	p.L88V	P4HA3_ENST00000427714.2_Missense_Mutation_p.L88V	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	88						endoplasmic reticulum (GO:0005783)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					GTAAATGCAAGCAGAGGGTTA	0.478																																																	0			11											166.0	162.0	163.0					11																	74015396		2200	4293	6493	73693044	SO:0001583	missense	283208			AY327887	CCDS8230.1, CCDS73347.1	11q13	2008-12-09	2008-12-09			ENSG00000149380			30135	protein-coding gene	gene with protein product	"""collagen prolyl 4-hydroxylase alpha(III)"""	608987	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III"""			14500733	Standard	XM_005273924		Approved	C-P4Halpha(III)	uc001ouz.3	Q7Z4N8		ENST00000331597.4:c.262C>G	11.37:g.74015396G>C	ENSP00000332170:p.Leu88Val		73693044	A0AV13|B4DUD3|Q5EBL3|Q5JPA9	Missense_Mutation	SNP	ENST00000331597.4	37	CCDS8230.1	.	.	.	.	.	.	.	.	.	.	G	6.361	0.434787	0.12045	.	.	ENSG00000149380	ENST00000331597;ENST00000427714	T;T	0.54675	0.58;0.56	5.79	4.87	0.63330	Prolyl 4-hydroxylase alpha-subunit, N-terminal (1);	0.212862	0.40144	N	0.001177	T	0.39306	0.1073	N	0.19112	0.55	0.29913	N	0.823395	P;B	0.42296	0.775;0.012	B;B	0.39660	0.306;0.036	T	0.36040	-0.9764	10	0.36615	T	0.2	-13.3992	14.6898	0.69076	0.0:0.1461:0.8539:0.0	.	88;88	B4DUD3;Q7Z4N8	.;P4HA3_HUMAN	V	88	ENSP00000332170:L88V;ENSP00000401749:L88V	ENSP00000332170:L88V	L	-	1	0	P4HA3	73693044	1.000000	0.71417	1.000000	0.80357	0.036000	0.12997	2.297000	0.43593	1.422000	0.47177	0.655000	0.94253	CTT		0.478	P4HA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382988.1	NM_182904	
KCNJ1	3758	hgsc.bcm.edu	37	11	128709851	128709851	+	Silent	SNP	A	A	G			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr11:128709851A>G	ENST00000392664.2	-	2	461	c.345T>C	c.(343-345)tcT>tcC	p.S115S	KCNJ1_ENST00000392665.2_Silent_p.S96S|KCNJ1_ENST00000392666.1_Silent_p.S96S|KCNJ1_ENST00000324036.3_Silent_p.S96S|KCNJ1_ENST00000440599.2_Silent_p.S96S	NM_000220.4	NP_000211.1	P48048	KCNJ1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	115			S -> F (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cardiovascular system development (GO:0072358)|excretion (GO:0007588)|kidney development (GO:0001822)|post-embryonic development (GO:0009791)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of G-protein activated inward rectifier potassium channel activity (GO:1900128)|renal sodium ion absorption (GO:0070294)|synaptic transmission (GO:0007268)|tissue homeostasis (GO:0001894)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Bethanidine(DB00217)|Glimepiride(DB00222)|Glyburide(DB01016)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Tolazamide(DB00839)|Tolbutamide(DB01124)|Yohimbine(DB01392)	TGTGATTGGCAGAAGGATGGA	0.458																																																	0			11											89.0	88.0	88.0					11																	128709851		2201	4297	6498	128215061	SO:0001819	synonymous_variant	3758			BC063109	CCDS8476.1, CCDS8477.1	11q24	2011-07-05			ENSG00000151704	ENSG00000151704		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6255	protein-coding gene	gene with protein product		600359				7680431, 8190102, 16382105	Standard	NM_153765		Approved	Kir1.1, ROMK1	uc001qeo.2	P48048	OTTHUMG00000048247	ENST00000392664.2:c.345T>C	11.37:g.128709851A>G			128215061	B2RMR4|Q6LD67	Silent	SNP	ENST00000392664.2	37	CCDS8476.1																																																																																				0.458	KCNJ1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386233.1	NM_000220	
DDX43	55510	hgsc.bcm.edu	37	6	74118978	74118978	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr6:74118978A>G	ENST00000370336.4	+	10	1345	c.1187A>G	c.(1186-1188)gAt>gGt	p.D396G	DDX43_ENST00000479773.1_3'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	396	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CAGGTTTTAGATGAAGCAGAC	0.383																																																	0			6											180.0	171.0	174.0					6																	74118978		2203	4300	6503	74175699	SO:0001583	missense	55510				CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"""DEAD-boxes"""	18677	protein-coding gene	gene with protein product	"""cancer/testis antigen 13"""	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.1187A>G	6.37:g.74118978A>G	ENSP00000359361:p.Asp396Gly		74175699	B4E0C8|Q6NXR1	Missense_Mutation	SNP	ENST00000370336.4	37	CCDS4977.1	.	.	.	.	.	.	.	.	.	.	A	16.77	3.214823	0.58452	.	.	ENSG00000080007	ENST00000370336	T	0.55413	0.52	4.82	4.82	0.62117	RNA helicase, ATP-dependent, DEAD-box, conserved site (1);DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.046925	0.85682	D	0.000000	D	0.82407	0.5030	H	0.99705	4.715	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.90266	0.4304	10	0.87932	D	0	-6.01	14.3102	0.66410	1.0:0.0:0.0:0.0	.	396	Q9NXZ2	DDX43_HUMAN	G	396	ENSP00000359361:D396G	ENSP00000359361:D396G	D	+	2	0	DDX43	74175699	1.000000	0.71417	1.000000	0.80357	0.298000	0.27526	8.703000	0.91344	1.926000	0.55796	0.374000	0.22700	GAT		0.383	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041219.3	NM_018665	
PHIP	55023	hgsc.bcm.edu	37	6	79657465	79657465	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr6:79657465T>C	ENST00000275034.4	-	36	4248	c.4081A>G	c.(4081-4083)Atg>Gtg	p.M1361V	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1361	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		GCAAAATCCATTGGAGTGTCA	0.403																																																	0			6											132.0	121.0	125.0					6																	79657465		2203	4300	6503	79714184	SO:0001583	missense	55023			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.4081A>G	6.37:g.79657465T>C	ENSP00000275034:p.Met1361Val		79714184	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	T	19.24	3.790162	0.70337	.	.	ENSG00000146247	ENST00000275034;ENST00000355098	T	0.26067	1.76	5.21	5.21	0.72293	Bromodomain (6);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.56062	0.1960	H	0.96547	3.84	0.80722	D	1	D;D	0.60160	0.987;0.987	D;D	0.68039	0.955;0.955	T	0.72161	-0.4374	9	.	.	.	-14.0995	14.5571	0.68109	0.0:0.0:0.0:1.0	.	1361;1361	A7J992;Q8WWQ0	.;PHIP_HUMAN	V	1361;87	ENSP00000275034:M1361V	.	M	-	1	0	PHIP	79714184	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.638000	0.83328	2.093000	0.63338	0.459000	0.35465	ATG		0.403	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2		
BACH2	60468	hgsc.bcm.edu	37	6	90660281	90660281	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr6:90660281G>A	ENST00000257749.4	-	7	2251	c.1544C>T	c.(1543-1545)aCc>aTc	p.T515I	RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000343122.3_Missense_Mutation_p.T515I|BACH2_ENST00000537989.1_Missense_Mutation_p.T515I	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	515						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CCTGGTCCTGGTCTCCAAGGG	0.642																																																	0			6											52.0	58.0	56.0					6																	90660281		2203	4300	6503	90717002	SO:0001583	missense	60468			AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.1544C>T	6.37:g.90660281G>A	ENSP00000257749:p.Thr515Ile		90717002	E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	ENST00000257749.4	37	CCDS5026.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760600	0.69763	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122	T;T;T	0.47869	0.83;0.83;0.83	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.49167	0.1541	L	0.29908	0.895	0.54753	D	0.999986	D	0.89917	1.0	D	0.69307	0.963	T	0.45512	-0.9256	10	0.39692	T	0.17	-24.4385	19.0174	0.92900	0.0:0.0:1.0:0.0	.	515	Q9BYV9	BACH2_HUMAN	I	515	ENSP00000257749:T515I;ENSP00000437473:T515I;ENSP00000345642:T515I	ENSP00000257749:T515I	T	-	2	0	BACH2	90717002	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.230000	0.95299	2.499000	0.84300	0.557000	0.71058	ACC		0.642	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813	
SHPRH	257218	hgsc.bcm.edu	37	6	146264622	146264622	+	Missense_Mutation	SNP	C	C	G			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr6:146264622C>G	ENST00000367505.2	-	9	2159	c.1895G>C	c.(1894-1896)tGt>tCt	p.C632S	SHPRH_ENST00000275233.7_Missense_Mutation_p.C632S|SHPRH_ENST00000438092.2_Missense_Mutation_p.C632S|SHPRH_ENST00000367503.3_Missense_Mutation_p.C632S			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	632					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		AGATTCAGCACAGTCCTCTGT	0.408																																																	0			6											183.0	173.0	176.0					6																	146264622		1966	4159	6125	146306315	SO:0001583	missense	257218			AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.1895G>C	6.37:g.146264622C>G	ENSP00000356475:p.Cys632Ser		146306315	Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	C	3.886	-0.024911	0.07589	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	T;T;T;T	0.72282	-0.64;-0.64;-0.63;-0.64	5.46	-0.871	0.10642	DEAD-like helicase (1);	1.724300	0.02669	N	0.108389	T	0.17746	0.0426	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.06405	0.0;0.0;0.0;0.002	T	0.24368	-1.0162	10	0.05721	T	0.95	2.8985	7.355	0.26714	0.0:0.3979:0.1567:0.4454	.	521;632;632;521	Q149N8-2;Q149N8;Q149N8-4;F8WEL0	.;SHPRH_HUMAN;.;.	S	632;632;632;632;521	ENSP00000356475:C632S;ENSP00000356473:C632S;ENSP00000412797:C632S;ENSP00000275233:C632S	ENSP00000275233:C632S	C	-	2	0	SHPRH	146306315	0.004000	0.15560	0.001000	0.08648	0.009000	0.06853	0.398000	0.20899	-0.075000	0.12798	-0.806000	0.03193	TGT		0.408	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082	
ADGB	79747	hgsc.bcm.edu	37	6	147122358	147122358	+	Missense_Mutation	SNP	C	C	A			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr6:147122358C>A	ENST00000397944.3	+	34	4653	c.4577C>A	c.(4576-4578)aCa>aAa	p.T1526K	KATNBL1P6_ENST00000562413.2_RNA|ADGB_ENST00000367488.1_3'UTR|ADGB_ENST00000367493.3_3'UTR	NM_024694.3	NP_078970.3	Q8N7X0	ADGB_HUMAN	androglobin	1526					oxygen transport (GO:0015671)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			breast(1)|endometrium(2)|kidney(2)	5						ATTTTGGAAACATCTCCACGA	0.328																																																	0			6											148.0	136.0	140.0					6																	147122358		692	1591	2283	147164051	SO:0001583	missense	79747			AK026774		6q24.2	2012-02-03	2012-02-03	2012-02-03	ENSG00000118492	ENSG00000118492			21212	protein-coding gene	gene with protein product		614630	"""chromosome 6 open reading frame 103"""	C6orf103		22115833	Standard	NM_024694		Approved	FLJ23121, dJ408K24.1	uc010khx.3	Q8N7X0	OTTHUMG00000015758	ENST00000397944.3:c.4577C>A	6.37:g.147122358C>A	ENSP00000381036:p.Thr1526Lys		147164051	Q5T402|Q5T904|Q5T905	Missense_Mutation	SNP	ENST00000397944.3	37		.	.	.	.	.	.	.	.	.	.	C	8.641	0.895977	0.17686	.	.	ENSG00000118492	ENST00000397944;ENST00000367490;ENST00000326916	T;T	0.47869	1.43;0.83	3.7	-0.792	0.10925	.	.	.	.	.	T	0.11324	0.0276	N	0.14661	0.345	0.22096	N	0.999366	B;B	0.32160	0.156;0.358	B;B	0.30029	0.031;0.11	T	0.18085	-1.0348	9	0.59425	D	0.04	.	7.0782	0.25217	0.0:0.5954:0.0:0.4046	.	1526;471	Q8N7X0;Q8N7X0-2	CAN7L_HUMAN;.	K	1526;484;249	ENSP00000381036:T1526K;ENSP00000356460:T484K	ENSP00000323839:T249K	T	+	2	0	C6orf103	147164051	0.000000	0.05858	0.617000	0.29091	0.281000	0.26958	-1.500000	0.02283	-0.133000	0.11537	0.591000	0.81541	ACA		0.328	ADGB-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376350.2	NM_024694	
TP53	7157	hgsc.bcm.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000420246.2_Missense_Mutation_p.R282W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W	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	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	TCTGTGCGCCGGTCTCTCCCA	0.557		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"""	463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(1)	17	GRCh37	CM056413|CM920678	TP53	M	rs28934574	G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	83.0	71.0	75.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	844,844,844,844,448,448,448	1.5	0.3	17	dbSNP_125	75	2,8598	2.2+/-6.3	1,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	101,101,101,101,101,101,101	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/394,282/394,282/347,282/342,150/262,150/210,150/215	7577094	2,13004	2203	4300	6503	7517819	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.844C>T	17.37:g.7577094G>A	ENSP00000269305:p.Arg282Trp		7517819	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	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	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	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
TP53	7157	hgsc.bcm.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	A	rs121912666		TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr17:7578190T>A	ENST00000269305.4	-	6	848	c.659A>T	c.(658-660)tAt>tTt	p.Y220F	TP53_ENST00000420246.2_Missense_Mutation_p.Y220F|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.Y220F|TP53_ENST00000445888.2_Missense_Mutation_p.Y220F|TP53_ENST00000359597.4_Missense_Mutation_p.Y220F|TP53_ENST00000455263.2_Missense_Mutation_p.Y220F	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	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and 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.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)	AGGCGGCTCATAGGGCACCAC	0.557		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"""	343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	17	GRCh37	CM015378|CM951227	TP53	M	rs121912666						102.0	94.0	97.0					17																	7578190		2203	4300	6503	7518915	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.659A>T	17.37:g.7578190T>A	ENSP00000269305:p.Tyr220Phe		7518915	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	26.7	4.763682	0.89932	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99818	-6.92;-6.92;-6.92;-6.92;-6.92;-6.92;-6.92;-6.92	5.28	5.28	0.74379	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	0.99648	0.9870	L	0.49640	1.575	0.58432	D	0.999996	D;D;B;D;D;P;D	0.89917	1.0;0.993;0.085;1.0;0.994;0.945;1.0	D;D;B;D;D;D;D	0.97110	0.999;0.978;0.32;1.0;0.991;0.975;0.999	D	0.97268	0.9909	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220F;ENSP00000352610:Y220F;ENSP00000269305:Y220F;ENSP00000398846:Y220F;ENSP00000391127:Y220F;ENSP00000391478:Y220F;ENSP00000425104:Y88F;ENSP00000423862:Y127F	ENSP00000269305:Y220F	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
MAP2K3	5606	hgsc.bcm.edu	37	17	21208416	21208416	+	Silent	SNP	C	C	T			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr17:21208416C>T	ENST00000342679.4	+	9	999	c.750C>T	c.(748-750)gaC>gaT	p.D250D	MAP2K3_ENST00000316920.6_Silent_p.D221D|MAP2K3_ENST00000361818.5_Silent_p.D221D	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	250	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		TCAAGTCCGACGTCTGGAGCC	0.637																																																	0			17											163.0	137.0	146.0					17																	21208416		2203	4300	6503	21149009	SO:0001819	synonymous_variant	5606			L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6843	protein-coding gene	gene with protein product	"""MAPK/ERK kinase 3"", ""MAP kinase kinase 3"", ""dual specificity mitogen activated protein kinase kinase 3"""	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.750C>T	17.37:g.21208416C>T			21149009	B3KSK7|Q99441|Q9UE71|Q9UE72	Silent	SNP	ENST00000342679.4	37	CCDS11217.1																																																																																				0.637	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	NM_145109	
KRTAP24-1	643803	hgsc.bcm.edu	37	21	31654689	31654689	+	Missense_Mutation	SNP	C	C	T	rs200135144		TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr21:31654689C>T	ENST00000340345.4	-	1	587	c.562G>A	c.(562-564)Gtc>Atc	p.V188I		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	188						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						AATGGTGAGACGTAGCTGGGT	0.418																																																	0			21											130.0	126.0	127.0					21																	31654689		1872	4106	5978	30576560	SO:0001583	missense	643803			AB096935	CCDS42915.1	21q22.11	2007-11-23			ENSG00000188694	ENSG00000188694		"""Keratin associated proteins"""	33902	protein-coding gene	gene with protein product							Standard	NM_001085455		Approved	KAP24.1	uc002ynv.3	Q3LI83	OTTHUMG00000125483	ENST00000340345.4:c.562G>A	21.37:g.31654689C>T	ENSP00000339238:p.Val188Ile		30576560	Q1XDX0	Missense_Mutation	SNP	ENST00000340345.4	37	CCDS42915.1	.	.	.	.	.	.	.	.	.	.	c	0.016	-1.524270	0.00959	.	.	ENSG00000188694	ENST00000340345	T	0.03889	3.77	4.8	0.977	0.19733	.	0.648359	0.14303	N	0.328131	T	0.02083	0.0065	N	0.08118	0	0.09310	N	1	B	0.21688	0.059	B	0.17722	0.019	T	0.46247	-0.9205	10	0.25106	T	0.35	-4.483	2.1659	0.03837	0.5894:0.1668:0.09:0.1539	.	188	Q3LI83	KR241_HUMAN	I	188	ENSP00000339238:V188I	ENSP00000339238:V188I	V	-	1	0	KRTAP24-1	30576560	0.766000	0.28496	0.020000	0.16555	0.034000	0.12701	0.517000	0.22832	0.070000	0.16634	-1.971000	0.00464	GTC		0.418	KRTAP24-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246806.2	NM_001085455	
CCDC78	124093	hgsc.bcm.edu	37	16	775123	775123	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr16:775123G>A	ENST00000293889.6	-	6	620	c.515C>T	c.(514-516)gCg>gTg	p.A172V	HAGHL_ENST00000564545.1_5'Flank|HAGHL_ENST00000341413.4_5'Flank|HAGHL_ENST00000561546.1_5'Flank|HAGHL_ENST00000389703.3_5'Flank|HAGHL_ENST00000549114.1_5'Flank|HAGHL_ENST00000564537.1_5'Flank	NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	172					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)|skeletal muscle contraction (GO:0003009)	centriole (GO:0005814)|deuterosome (GO:0098536)|perinuclear region of cytoplasm (GO:0048471)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				ATGCTCCAGCGCCCACTTCAC	0.657																																																	0			16											52.0	57.0	56.0					16																	775123		2199	4294	6493	715124	SO:0001583	missense	124093			BC042110	CCDS32353.1	16p13.3	2014-07-15		2006-02-20	ENSG00000162004	ENSG00000162004			14153	protein-coding gene	gene with protein product		614666		C16orf25		24075808	Standard	NM_001031737		Approved	FLJ34512	uc002cjg.3	A2IDD5	OTTHUMG00000121176	ENST00000293889.6:c.515C>T	16.37:g.775123G>A	ENSP00000293889:p.Ala172Val		715124	B4DNY4|B4E1U6|Q05BY7|Q05CA0|Q6T2V5|Q6ZR33|Q8IUR3|Q8NAY7|Q96S12	Missense_Mutation	SNP	ENST00000293889.6	37	CCDS32353.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	3.041|3.041	-0.197575|-0.197575	0.06259|0.06259	.|.	.|.	ENSG00000162004|ENSG00000162004	ENST00000293889|ENST00000345165	T|.	0.27890|.	1.64|.	4.17|4.17	-6.84|-6.84	0.01687|0.01687	.|.	1.837330|.	0.02904|.	N|.	0.135830|.	T|T	0.11965|0.11965	0.0291|0.0291	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	B;B|.	0.19706|.	0.005;0.038|.	B;B|.	0.12837|.	0.001;0.008|.	T|T	0.32268|0.32268	-0.9913|-0.9913	10|5	0.02654|.	T|.	1|.	-0.0759|-0.0759	7.5652|7.5652	0.27874|0.27874	0.6999:0.0:0.168:0.1321|0.6999:0.0:0.168:0.1321	.|.	172;21|.	A2IDD5;D3DU61|.	CCD78_HUMAN;.|.	V|C	172|21	ENSP00000293889:A172V|.	ENSP00000293889:A172V|.	A|R	-|-	2|1	0|0	CCDC78|CCDC78	715124|715124	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-1.859000|-1.859000	0.01657|0.01657	-1.155000|-1.155000	0.02822|0.02822	-0.215000|-0.215000	0.12644|0.12644	GCG|CGC		0.657	CCDC78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241665.3	NM_173476	
CCDC154	645811	hgsc.bcm.edu	37	16	1488172	1488172	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr16:1488172G>A	ENST00000389176.3	-	10	1224	c.1058C>T	c.(1057-1059)gCc>gTc	p.A353V	CCDC154_ENST00000409671.1_Missense_Mutation_p.A199V	NM_001143980.1	NP_001137452.1	A6NI56	CC154_HUMAN	coiled-coil domain containing 154	353						endosome (GO:0005768)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)	5						GCGCCCCTTGGCGTCCCTAGG	0.687																																																	0			16											17.0	20.0	19.0					16																	1488172		691	1590	2281	1428173	SO:0001583	missense	645811					16p13.3	2012-12-13			ENSG00000197599	ENSG00000197599			34454	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 29"""	C16orf29			Standard	NM_001143980		Approved	LOC645811	uc010uve.2	A6NI56	OTTHUMG00000154097	ENST00000389176.3:c.1058C>T	16.37:g.1488172G>A	ENSP00000373828:p.Ala353Val		1428173	G9JV18	Missense_Mutation	SNP	ENST00000389176.3	37		.	.	.	.	.	.	.	.	.	.	G	9.354	1.066194	0.20067	.	.	ENSG00000197599	ENST00000409671;ENST00000389176	.	.	.	3.05	-0.141	0.13452	.	1.128520	0.06805	N	0.789317	T	0.22126	0.0533	L	0.29908	0.895	0.23563	N	0.997403	P	0.52316	0.952	B	0.43916	0.436	T	0.19614	-1.0300	9	0.29301	T	0.29	-1.2106	5.1921	0.15214	0.1241:0.415:0.4609:0.0	.	353	A6NI56	CC154_HUMAN	V	199;353	.	ENSP00000373828:A353V	A	-	2	0	CCDC154	1428173	0.050000	0.20438	0.067000	0.19924	0.016000	0.09150	0.701000	0.25616	0.019000	0.15079	-0.304000	0.09214	GCC		0.687	CCDC154-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001143980	
PARN	5073	hgsc.bcm.edu	37	16	14693794	14693794	+	Silent	SNP	T	T	C			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr16:14693794T>C	ENST00000437198.2	-	12	948	c.807A>G	c.(805-807)ggA>ggG	p.G269G	PARN_ENST00000420015.2_Silent_p.G223G|PARN_ENST00000341484.7_Silent_p.G208G|PARN_ENST00000539279.1_Silent_p.G94G|RN7SL274P_ENST00000492268.2_RNA	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	269					female gamete generation (GO:0007292)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA metabolic process (GO:0016070)|RNA modification (GO:0009451)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|nuclease activity (GO:0004518)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(A)-specific ribonuclease activity (GO:0004535)|protein kinase binding (GO:0019901)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						CTCTAGAAAATCCCACAGCAT	0.313																																																	0			16											112.0	101.0	104.0					16																	14693794		1824	4081	5905	14601295	SO:0001819	synonymous_variant	5073			AJ005698	CCDS45419.1, CCDS45420.1, CCDS58425.1	16p13	2014-08-08	2011-07-07		ENSG00000140694	ENSG00000140694	3.1.13.4		8609	protein-coding gene	gene with protein product	"""deadenylation nuclease"""	604212	"""poly(A)-specific ribonuclease (deadenylation nuclease)"""			10640832	Standard	NM_002582		Approved	DAN	uc010uzd.2	O95453	OTTHUMG00000173199	ENST00000437198.2:c.807A>G	16.37:g.14693794T>C			14601295	B2RCB3|B4DDG8|B4DWR4|B4E1H6	Silent	SNP	ENST00000437198.2	37	CCDS45419.1																																																																																				0.313	PARN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422383.1	NM_002582	
DNAH3	55567	hgsc.bcm.edu	37	16	21133399	21133399	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr16:21133399A>G	ENST00000261383.3	-	10	1450	c.1451T>C	c.(1450-1452)aTa>aCa	p.I484T	CTC-508F8.1_ENST00000575612.1_RNA|DNAH3_ENST00000415178.1_Missense_Mutation_p.I484T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	484	Stem. {ECO:0000250}.		I -> L (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TAGCTGAGGTATGAAAAACTT	0.408																																																	0			16											126.0	127.0	127.0					16																	21133399		2201	4300	6501	21040900	SO:0001583	missense	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.1451T>C	16.37:g.21133399A>G	ENSP00000261383:p.Ile484Thr		21040900	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	A	7.705	0.693921	0.15039	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	T;T	0.21543	2.0;2.15	5.36	4.06	0.47325	.	0.531714	0.19407	N	0.115022	T	0.13500	0.0327	L	0.32530	0.975	0.27506	N	0.951829	B;B	0.11235	0.0;0.004	B;B	0.11329	0.001;0.006	T	0.21759	-1.0236	10	0.11485	T	0.65	.	8.1586	0.31185	0.8297:0.0:0.1703:0.0	.	484;455	Q8TD57;Q8TD57-2	DYH3_HUMAN;.	T	484;484;455	ENSP00000261383:I484T;ENSP00000394245:I484T	ENSP00000261383:I484T	I	-	2	0	DNAH3	21040900	0.002000	0.14202	0.998000	0.56505	0.957000	0.61999	0.629000	0.24538	2.032000	0.59987	0.533000	0.62120	ATA		0.408	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	
SALL1	6299	hgsc.bcm.edu	37	16	51175936	51175936	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr16:51175936G>A	ENST00000251020.4	-	2	230	c.197C>T	c.(196-198)aCt>aTt	p.T66I	SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000440970.1_5'UTR|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	66					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TTGATTTTTAGTACAGTTCTT	0.473																																					GBM(103;1352 1446 1855 4775 8890)												0			16											80.0	87.0	85.0					16																	51175936		2198	4300	6498	49733437	SO:0001583	missense	6299			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.197C>T	16.37:g.51175936G>A	ENSP00000251020:p.Thr66Ile		49733437	Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.735611	0.69189	.	.	ENSG00000103449	ENST00000251020;ENST00000457559	T	0.48522	0.81	5.37	5.37	0.77165	.	0.044847	0.85682	D	0.000000	T	0.51991	0.1707	M	0.74647	2.275	0.80722	D	1	P	0.39282	0.666	B	0.35859	0.212	T	0.61486	-0.7053	10	0.87932	D	0	.	19.1099	0.93313	0.0:0.0:1.0:0.0	.	66	Q9NSC2	SALL1_HUMAN	I	66	ENSP00000251020:T66I	ENSP00000251020:T66I	T	-	2	0	SALL1	49733437	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	8.044000	0.89434	2.499000	0.84300	0.555000	0.69702	ACT		0.473	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968	
CHD9	80205	hgsc.bcm.edu	37	16	53358032	53358032	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr16:53358032A>G	ENST00000398510.3	+	38	8006	c.7919A>G	c.(7918-7920)aAg>aGg	p.K2640R	CHD9_ENST00000564845.1_Missense_Mutation_p.K2624R|CHD9_ENST00000447540.1_Missense_Mutation_p.K2625R|CHD9_ENST00000566029.1_Missense_Mutation_p.K2624R			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2640	Poly-Ala.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.K2641T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GGAATTGCAAAGGCCACAGCA	0.507																																																	1	Substitution - Missense(1)	lung(1)	16											100.0	101.0	101.0					16																	53358032		1927	4138	6065	51915533	SO:0001583	missense	80205			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.7919A>G	16.37:g.53358032A>G	ENSP00000381522:p.Lys2640Arg		51915533	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37		.	.	.	.	.	.	.	.	.	.	A	14.95	2.687341	0.48097	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D	0.88354	-2.37	5.23	5.23	0.72850	.	0.000000	0.56097	D	0.000034	D	0.91952	0.7451	L	0.49350	1.555	0.58432	D	0.999997	D;D;D;D	0.71674	0.997;0.996;0.997;0.998	D;D;D;D	0.78314	0.98;0.987;0.98;0.991	D	0.90043	0.4143	10	0.23891	T	0.37	-14.547	15.4199	0.75003	1.0:0.0:0.0:0.0	.	706;2625;2640;2624	C9JR69;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	R	2625;2624;706	ENSP00000396345:K2625R	ENSP00000381522:K2624R	K	+	2	0	CHD9	51915533	1.000000	0.71417	0.931000	0.37212	0.613000	0.37349	9.219000	0.95173	2.112000	0.64535	0.533000	0.62120	AAG		0.507	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134	
HYDIN	54768	hgsc.bcm.edu	37	16	70954726	70954726	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr16:70954726T>C	ENST00000393567.2	-	46	7703	c.7553A>G	c.(7552-7554)aAg>aGg	p.K2518R		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2518					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				cgtgcgctccttctccaggcg	0.711																																																	0			16											15.0	17.0	16.0					16																	70954726		1919	4093	6012	69512227	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.7553A>G	16.37:g.70954726T>C	ENSP00000377197:p.Lys2518Arg		69512227	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	T	10.99	1.507932	0.27036	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01113	5.32	5.72	4.62	0.57501	.	0.000000	0.32314	U	0.006275	T	0.00906	0.0030	N	0.08118	0	0.80722	D	1	B	0.27997	0.197	B	0.30716	0.119	T	0.69960	-0.5003	10	0.35671	T	0.21	.	10.1791	0.42957	0.0:0.0766:0.0:0.9234	.	2517	F8WD23	.	R	2518;2517	ENSP00000377197:K2518R	ENSP00000313052:K2517R	K	-	2	0	HYDIN	69512227	0.978000	0.34361	1.000000	0.80357	0.094000	0.18550	1.128000	0.31369	0.986000	0.38683	-0.363000	0.07495	AAG		0.711	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
DSG1	1828	hgsc.bcm.edu	37	18	28911805	28911805	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr18:28911805C>T	ENST00000257192.4	+	6	871	c.659C>T	c.(658-660)aCg>aTg	p.T220M		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	220	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)	p.T220M(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GAAATTCGAACGATGAATAAT	0.328																																																	1	Substitution - Missense(1)	central_nervous_system(1)	18											68.0	70.0	69.0					18																	28911805		2203	4296	6499	27165803	SO:0001583	missense	1828			X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.659C>T	18.37:g.28911805C>T	ENSP00000257192:p.Thr220Met		27165803	B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.651199	0.67472	.	.	ENSG00000134760	ENST00000257192	T	0.56941	0.43	5.49	5.49	0.81192	Cadherin (4);Cadherin-like (1);	0.000000	0.53938	D	0.000053	T	0.76118	0.3943	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.80652	-0.1287	10	0.87932	D	0	.	10.4937	0.44764	0.0:0.8817:0.0:0.1183	.	220	Q02413	DSG1_HUMAN	M	220	ENSP00000257192:T220M	ENSP00000257192:T220M	T	+	2	0	DSG1	27165803	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.485000	0.53208	2.584000	0.87258	0.655000	0.94253	ACG		0.328	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942	
DCC	1630	hgsc.bcm.edu	37	18	50937002	50937002	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr18:50937002T>C	ENST00000442544.2	+	20	3732	c.3116T>C	c.(3115-3117)tTc>tCc	p.F1039S	DCC_ENST00000412726.1_Missense_Mutation_p.F867S|DCC_ENST00000581580.1_Missense_Mutation_p.F674S	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1039	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.		F -> S (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.F1039S(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCTATCCTCTTCAGGACTCTG	0.383																																																	1	Substitution - Missense(1)	large_intestine(1)	18											71.0	71.0	71.0					18																	50937002		2203	4299	6502	49191000	SO:0001583	missense	1630			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3116T>C	18.37:g.50937002T>C	ENSP00000389140:p.Phe1039Ser		49191000		Missense_Mutation	SNP	ENST00000442544.2	37	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	T	14.60	2.583330	0.46006	.	.	ENSG00000187323	ENST00000442544;ENST00000412726	T;T	0.56103	0.48;0.48	5.87	5.87	0.94306	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.67297	0.2878	M	0.68593	2.085	0.58432	D	0.999999	D;D;D	0.61697	0.99;0.99;0.982	D;D;D	0.64144	0.922;0.922;0.916	T	0.63161	-0.6699	10	0.21014	T	0.42	-11.3642	15.5573	0.76208	0.0:0.0:0.0:1.0	.	867;867;1039	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	S	1039;867	ENSP00000389140:F1039S;ENSP00000397322:F867S	ENSP00000397322:F867S	F	+	2	0	DCC	49191000	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	6.020000	0.70826	2.371000	0.80710	0.533000	0.62120	TTC		0.383	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215	
IL5RA	3568	hgsc.bcm.edu	37	3	3137079	3137079	+	Silent	SNP	A	A	G			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr3:3137079A>G	ENST00000446632.2	-	8	1333	c.759T>C	c.(757-759)cgT>cgC	p.R253R	IL5RA_ENST00000438560.1_Silent_p.R253R|IL5RA_ENST00000383846.1_Silent_p.R253R|IL5RA_ENST00000456302.1_Silent_p.R253R|IL5RA_ENST00000418488.2_Intron|IL5RA_ENST00000256452.3_Silent_p.R253R|IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000311981.8_Silent_p.R253R|IL5RA_ENST00000430514.2_Silent_p.R253R	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	253	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-5-mediated signaling pathway (GO:0038043)|regulation of interleukin-5 production (GO:0032674)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-5 receptor activity (GO:0004914)			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		GGATAGAGAGACGAGTTCCTT	0.358																																					GBM(169;430 2801 24955 28528)												0			3											101.0	100.0	100.0					3																	3137079		2203	4300	6503	3112079	SO:0001819	synonymous_variant	3568			M96652	CCDS2559.1, CCDS2560.1, CCDS46739.1, CCDS58813.1	3p26-p24	2008-01-11			ENSG00000091181	ENSG00000091181		"""Interleukins and interleukin receptors"", ""CD molecules"""	6017	protein-coding gene	gene with protein product		147851		IL5R		1732409	Standard	NM_175727		Approved	CDw125, CD125	uc010hbs.3	Q01344	OTTHUMG00000090245	ENST00000446632.2:c.759T>C	3.37:g.3137079A>G			3112079	B3IU77|B4E2G0|Q14633|Q15469|Q6ISX9	Silent	SNP	ENST00000446632.2	37	CCDS2559.1																																																																																				0.358	IL5RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337537.2		
GRM7	2917	hgsc.bcm.edu	37	3	7456805	7456805	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr3:7456805A>G	ENST00000357716.4	+	5	1403	c.1129A>G	c.(1129-1131)Acg>Gcg	p.T377A	GRM7_ENST00000403881.1_Missense_Mutation_p.T377A|GRM7_ENST00000389336.4_Missense_Mutation_p.T377A|GRM7_ENST00000402647.2_Missense_Mutation_p.T377A|GRM7_ENST00000486284.1_Missense_Mutation_p.T377A	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	377					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						CTGCAAGTTGACGATTAGTGG	0.408																																																	0			3											107.0	98.0	101.0					3																	7456805		2203	4300	6503	7431805	SO:0001583	missense	2917			U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.1129A>G	3.37:g.7456805A>G	ENSP00000350348:p.Thr377Ala		7431805	Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	A	11.14	1.550880	0.27739	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492;ENST00000445087	D;D;D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02;-2.02;-2.02	5.8	5.8	0.92144	Extracellular ligand-binding receptor (1);	0.184921	0.49305	D	0.000148	D	0.89079	0.6613	L	0.46885	1.475	0.45046	D	0.99806	D;P;B	0.56035	0.974;0.941;0.082	D;D;B	0.71414	0.953;0.973;0.036	D	0.86941	0.2079	10	0.27785	T	0.31	.	15.263	0.73640	1.0:0.0:0.0:0.0	.	377;377;377	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	A	377;377;377;377;377;377;377;34	ENSP00000350348:T377A;ENSP00000417536:T377A;ENSP00000373987:T377A;ENSP00000385664:T377A;ENSP00000384585:T377A;ENSP00000395035:T34A	ENSP00000350348:T377A	T	+	1	0	GRM7	7431805	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.713000	0.74686	2.340000	0.79590	0.528000	0.53228	ACG		0.408	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844	
CPNE9	151835	hgsc.bcm.edu	37	3	9768379	9768379	+	Missense_Mutation	SNP	G	G	A	rs566993609		TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr3:9768379G>A	ENST00000383832.3	+	19	1565	c.1375G>A	c.(1375-1377)Gtc>Atc	p.V459I	CPNE9_ENST00000383831.3_Missense_Mutation_p.V459I	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	459	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.V459I(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					TATCATTATCGTCGGTGTAGG	0.547																																																	2	Substitution - Missense(2)	ovary(1)|prostate(1)	3											122.0	117.0	119.0					3																	9768379		1927	4145	6072	9743379	SO:0001583	missense	151835				CCDS2574.2	3p25.3	2008-10-30			ENSG00000144550	ENSG00000144550			24336	protein-coding gene	gene with protein product						9430674	Standard	XM_006712990		Approved	KIAA4217	uc003bsd.3	Q8IYJ1	OTTHUMG00000128418	ENST00000383832.3:c.1375G>A	3.37:g.9768379G>A	ENSP00000373343:p.Val459Ile		9743379	A1L430|A6NDX6|A8MSP8	Missense_Mutation	SNP	ENST00000383832.3	37	CCDS2574.2	.	.	.	.	.	.	.	.	.	.	G	19.70	3.876822	0.72180	.	.	ENSG00000144550	ENST00000383832;ENST00000383831	T;T	0.22945	1.93;1.93	4.4	4.4	0.53042	von Willebrand factor, type A (2);Copine (1);	0.064498	0.64402	D	0.000011	T	0.37489	0.1005	M	0.62723	1.935	0.53688	D	0.999976	P	0.43857	0.819	P	0.48304	0.573	T	0.21759	-1.0236	10	0.45353	T	0.12	.	16.7977	0.85606	0.0:0.0:1.0:0.0	.	459	Q8IYJ1	CPNE9_HUMAN	I	459	ENSP00000373343:V459I;ENSP00000373342:V459I	ENSP00000373342:V459I	V	+	1	0	CPNE9	9743379	1.000000	0.71417	0.962000	0.40283	0.964000	0.63967	6.831000	0.75324	2.257000	0.74773	0.460000	0.39030	GTC		0.547	CPNE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250205.4	NM_001033755	
TSEN2	80746	hgsc.bcm.edu	37	3	12558136	12558136	+	Silent	SNP	A	A	G			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr3:12558136A>G	ENST00000284995.6	+	7	1323	c.936A>G	c.(934-936)ggA>ggG	p.G312G	RNU6-377P_ENST00000515965.1_RNA|TSEN2_ENST00000454502.2_Silent_p.G253G|TSEN2_ENST00000314571.7_Silent_p.G286G|TSEN2_ENST00000415684.1_Silent_p.G286G|TSEN2_ENST00000444864.1_Silent_p.G286G|TSEN2_ENST00000402228.3_Silent_p.G312G|TSEN2_ENST00000383797.5_Intron|C3orf83_ENST00000567514.1_Intron	NM_025265.3	NP_079541.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	312					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						ATGCTCTGGGATGTTTAAGTA	0.328																																																	0			3											158.0	133.0	141.0					3																	12558136		2203	4299	6502	12533136	SO:0001819	synonymous_variant	80746			BC019582	CCDS2611.1, CCDS46757.1, CCDS46758.1, CCDS46759.1	3p25.2	2013-08-06	2013-08-06		ENSG00000154743	ENSG00000154743		"""tRNA splicing endonuclease subunits"""	28422	protein-coding gene	gene with protein product		608753	"""tRNA splicing endonuclease 2 homolog (SEN2, S. cerevisiae)"", ""tRNA splicing endonuclease 2 homolog (S. cerevisiae)"""			15109492	Standard	NM_025265		Approved	SEN2, SEN2L, MGC2776	uc003bxb.3	Q8NCE0	OTTHUMG00000129765	ENST00000284995.6:c.936A>G	3.37:g.12558136A>G			12533136	B7Z6K1|C9IZI7|G5E9Q3|Q8WTW7|Q9BPU7	Silent	SNP	ENST00000284995.6	37	CCDS2611.1																																																																																				0.328	TSEN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251981.1	NM_025265	
SATB1	6304	hgsc.bcm.edu	37	3	18419722	18419722	+	Silent	SNP	T	T	C			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr3:18419722T>C	ENST00000338745.6	-	9	3249	c.1515A>G	c.(1513-1515)gaA>gaG	p.E505E	SATB1_ENST00000417717.2_Silent_p.E505E|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Silent_p.E505E	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	505					activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CACGCTTCATTTCCTGCTGAA	0.413																																																	0			3											198.0	188.0	192.0					3																	18419722		2203	4300	6503	18394726	SO:0001819	synonymous_variant	6304				CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.1515A>G	3.37:g.18419722T>C			18394726	B3KXF1|C9JTR6|Q59EQ0	Silent	SNP	ENST00000338745.6	37	CCDS2631.1																																																																																				0.413	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252138.4	NM_001131010	
ZNF385D	79750	hgsc.bcm.edu	37	3	21467073	21467073	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr3:21467073C>T	ENST00000281523.2	-	6	1281	c.763G>A	c.(763-765)Gtt>Att	p.V255I		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	255						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CCTTTATTAACAGGTCCTTTG	0.438																																																	0			3											149.0	137.0	141.0					3																	21467073		2203	4300	6503	21442077	SO:0001583	missense	79750			BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.763G>A	3.37:g.21467073C>T	ENSP00000281523:p.Val255Ile		21442077		Missense_Mutation	SNP	ENST00000281523.2	37	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.908261	0.33721	.	.	ENSG00000151789	ENST00000281523	T	0.42900	0.96	5.59	3.77	0.43336	.	0.427365	0.21633	N	0.071460	T	0.22003	0.0530	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12889	-1.0530	10	0.37606	T	0.19	-18.7096	9.4481	0.38710	0.0:0.7237:0.0:0.2763	.	255	Q9H6B1	Z385D_HUMAN	I	255	ENSP00000281523:V255I	ENSP00000281523:V255I	V	-	1	0	ZNF385D	21442077	0.911000	0.30947	0.872000	0.34217	0.998000	0.95712	1.205000	0.32308	1.491000	0.48482	0.655000	0.94253	GTT		0.438	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697	
SLC4A7	9497	hgsc.bcm.edu	37	3	27436595	27436595	+	Silent	SNP	T	T	C	rs148520298	byFrequency	TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr3:27436595T>C	ENST00000295736.5	-	19	2758	c.2688A>G	c.(2686-2688)ccA>ccG	p.P896P	SLC4A7_ENST00000445684.1_Silent_p.P892P|SLC4A7_ENST00000446700.1_Silent_p.P888P|SLC4A7_ENST00000428386.1_Silent_p.P772P|SLC4A7_ENST00000435667.2_Silent_p.P781P|SLC4A7_ENST00000454389.1_Silent_p.P905P|SLC4A7_ENST00000455077.1_Silent_p.P777P|SLC4A7_ENST00000388777.4_Silent_p.P446P|SLC4A7_ENST00000440156.1_Silent_p.P892P|SLC4A7_ENST00000437179.1_Silent_p.P777P|SLC4A7_ENST00000425128.2_3'UTR	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	896					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	ACCCTCTCTCTGGATGAGTAG	0.368													T|||	11	0.00219649	0.0053	0.0058	5008	,	,		17897	0.0		0.0	False		,,,				2504	0.0																0			3						T		10,4396	17.9+/-39.9	0,10,2193	63.0	62.0	62.0		2688	4.9	0.9	3	dbSNP_134	62	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	SLC4A7	NM_003615.3		0,15,6488	CC,CT,TT		0.0581,0.227,0.1153		896/1215	27436595	15,12991	2203	4300	6503	27411599	SO:0001819	synonymous_variant	9497			AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.2688A>G	3.37:g.27436595T>C			27411599	A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Silent	SNP	ENST00000295736.5	37	CCDS33721.1																																																																																				0.368	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615	
DLEC1	9940	hgsc.bcm.edu	37	3	38134331	38134331	+	Silent	SNP	C	C	T			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr3:38134331C>T	ENST00000308059.6	+	11	1737	c.1716C>T	c.(1714-1716)atC>atT	p.I572I	DLEC1_ENST00000452631.2_Silent_p.I572I|DLEC1_ENST00000346219.3_Silent_p.I572I					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCTTCATCATCATGTGCGACA	0.567																																																	0			3											101.0	102.0	102.0					3																	38134331		2039	4200	6239	38109335	SO:0001819	synonymous_variant	9940			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.1716C>T	3.37:g.38134331C>T			38109335		Silent	SNP	ENST00000308059.6	37	CCDS2672.2																																																																																				0.567	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337	
DAG1	1605	hgsc.bcm.edu	37	3	49568627	49568627	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr3:49568627T>C	ENST00000539901.1	+	3	1241	c.683T>C	c.(682-684)gTg>gCg	p.V228A	DAG1_ENST00000515359.2_Missense_Mutation_p.V228A|DAG1_ENST00000541308.1_Missense_Mutation_p.V228A|DAG1_ENST00000308775.2_Missense_Mutation_p.V228A|DAG1_ENST00000545947.1_Missense_Mutation_p.V228A|DAG1_ENST00000538711.1_Missense_Mutation_p.V228A	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	228	Required for laminin recognition.				basement membrane organization (GO:0071711)|branching involved in salivary gland morphogenesis (GO:0060445)|calcium-dependent cell-matrix adhesion (GO:0016340)|commissural neuron axon guidance (GO:0071679)|cytoskeletal anchoring at plasma membrane (GO:0007016)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|microtubule anchoring (GO:0034453)|modulation by virus of host morphology or physiology (GO:0019048)|morphogenesis of an epithelial sheet (GO:0002011)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell migration (GO:0030336)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase B signaling (GO:0051898)|nerve maturation (GO:0021682)|NLS-bearing protein import into nucleus (GO:0006607)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell outer membrane (GO:0009279)|cell-cell adherens junction (GO:0005913)|contractile ring (GO:0070938)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystroglycan complex (GO:0016011)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|node of Ranvier (GO:0033268)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|alpha-actinin binding (GO:0051393)|calcium ion binding (GO:0005509)|laminin-1 binding (GO:0043237)|SH2 domain binding (GO:0042169)|structural constituent of muscle (GO:0008307)|tubulin binding (GO:0015631)|vinculin binding (GO:0017166)|virus receptor activity (GO:0001618)			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		ATGAAATTAGTGCCGGTGGTG	0.512																																																	0			3											78.0	82.0	81.0					3																	49568627		2203	4300	6503	49543631	SO:0001583	missense	1605			L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402			2666	protein-coding gene	gene with protein product	"""alpha-dystroglycan"", ""dystrophin-associated glycoprotein-1"", ""beta-dystroglycan"""	128239				7774920, 1741056	Standard	NM_001177643		Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.683T>C	3.37:g.49568627T>C	ENSP00000439334:p.Val228Ala		49543631	A8K6M7|Q969J9	Missense_Mutation	SNP	ENST00000539901.1	37	CCDS2799.1	.	.	.	.	.	.	.	.	.	.	T	13.48	2.249813	0.39797	.	.	ENSG00000173402	ENST00000515359;ENST00000308775;ENST00000545947;ENST00000541308;ENST00000539901;ENST00000538711;ENST00000415315	T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	5.92	5.92	0.95590	.	0.058901	0.64402	D	0.000003	T	0.81583	0.4853	L	0.34521	1.04	0.46823	D	0.999211	D	0.69078	0.997	D	0.68039	0.955	T	0.81280	-0.1004	10	0.40728	T	0.16	-17.7946	15.3474	0.74350	0.0:0.0:0.0:1.0	.	228	Q14118	DAG1_HUMAN	A	228;228;228;228;228;228;27	ENSP00000440705:V228A;ENSP00000312435:V228A;ENSP00000442600:V228A;ENSP00000440590:V228A;ENSP00000439334:V228A;ENSP00000438421:V228A	ENSP00000312435:V228A	V	+	2	0	DAG1	49543631	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	8.040000	0.89188	2.263000	0.75096	0.533000	0.62120	GTG		0.512	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346326.1		
PBRM1	55193	hgsc.bcm.edu	37	3	52597433	52597433	+	Missense_Mutation	SNP	C	C	T	rs199643728		TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr3:52597433C>T	ENST00000296302.7	-	24	3953	c.3952G>A	c.(3952-3954)Gag>Aag	p.E1318K	PBRM1_ENST00000409767.1_Missense_Mutation_p.E1333K|PBRM1_ENST00000410007.1_Missense_Mutation_p.E1293K|PBRM1_ENST00000356770.4_Missense_Mutation_p.E1286K|PBRM1_ENST00000409057.1_Missense_Mutation_p.E1318K|PBRM1_ENST00000409114.3_Missense_Mutation_p.E1333K|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000337303.4_Missense_Mutation_p.E1318K|RNU6ATAC16P_ENST00000408591.1_RNA|PBRM1_ENST00000394830.3_Missense_Mutation_p.E1293K			Q86U86	PB1_HUMAN	polybromo 1	1318					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CCTTCTAACTCGGCAAATTTA	0.438			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	0			3						C	LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	149.0	132.0	137.0		3856,3877,3952	5.6	1.0	3		137	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	PBRM1	NM_018165.4,NM_018313.4,NM_181042.3	56,56,56	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign	1286/1603,1293/1583,1318/1583	52597433	2,13004	2203	4300	6503	52572473	SO:0001583	missense	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3952G>A	3.37:g.52597433C>T	ENSP00000296302:p.Glu1318Lys		52572473	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	C	20.6	4.019567	0.75275	0.0	2.33E-4	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351	T;T;T;T;T;T;T;T;T	0.36157	1.29;1.38;1.31;1.27;1.29;1.3;1.74;1.27;1.27	5.63	5.63	0.86233	.	0.099948	0.64402	D	0.000002	T	0.23094	0.0558	N	0.22421	0.69	0.53005	D	0.999963	P;P;P;P;P;P;P;P	0.47106	0.769;0.564;0.769;0.876;0.89;0.846;0.769;0.564	B;B;B;B;B;B;B;B	0.33890	0.158;0.112;0.158;0.123;0.172;0.076;0.158;0.085	T	0.04041	-1.0982	10	0.21540	T	0.41	-17.2823	18.2115	0.89872	0.0:1.0:0.0:0.0	.	1293;1293;1318;1333;1333;1318;1286;1318	Q86U86-9;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;PB1_HUMAN;.;.	K	1286;1293;1318;1318;1318;1293;1333;1333;1317	ENSP00000349213:E1286K;ENSP00000378307:E1293K;ENSP00000296302:E1318K;ENSP00000338302:E1318K;ENSP00000386593:E1318K;ENSP00000386529:E1293K;ENSP00000386643:E1333K;ENSP00000386601:E1333K;ENSP00000387775:E1317K	ENSP00000296302:E1318K	E	-	1	0	PBRM1	52572473	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.772000	0.85439	2.802000	0.96397	0.561000	0.74099	GAG		0.438	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165	
B4GALT4	8702	hgsc.bcm.edu	37	3	118948710	118948710	+	Silent	SNP	A	A	T			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr3:118948710A>T	ENST00000483209.1	-	3	878	c.237T>A	c.(235-237)tcT>tcA	p.S79S	B4GALT4_ENST00000471675.1_Silent_p.S32S|B4GALT4_ENST00000467604.1_Silent_p.S79S|B4GALT4_ENST00000359213.3_Silent_p.S79S|B4GALT4_ENST00000393765.2_Silent_p.S79S|B4GALT4_ENST00000460321.1_Intron|B4GALT4-AS1_ENST00000470790.1_RNA			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	79					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|membrane lipid metabolic process (GO:0006643)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	AAGGAGACACAGAAGGGCAGT	0.368																																																	0			3											137.0	126.0	130.0					3																	118948710		2203	4300	6503	120431400	SO:0001819	synonymous_variant	8702			AF022367	CCDS2986.1	3q13.3	2013-02-19			ENSG00000121578	ENSG00000121578		"""Beta 4-glycosyltransferases"""	927	protein-coding gene	gene with protein product		604015				9597550	Standard	NM_003778		Approved	beta4Gal-T4	uc003eci.3	O60513	OTTHUMG00000159358	ENST00000483209.1:c.237T>A	3.37:g.118948710A>T			120431400	Q68D68|Q9BSW3|Q9C078	Silent	SNP	ENST00000483209.1	37	CCDS2986.1																																																																																				0.368	B4GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354925.2	NM_003778	
HCLS1	3059	hgsc.bcm.edu	37	3	121351333	121351333	+	Silent	SNP	T	T	A	rs34277781		TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	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	
SEC61A1	29927	hgsc.bcm.edu	37	3	127788458	127788458	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr3:127788458G>A	ENST00000243253.3	+	12	1568	c.1384G>A	c.(1384-1386)Gtt>Att	p.V462I	RUVBL1_ENST00000464873.1_Intron|SEC61A1_ENST00000464451.1_Missense_Mutation_p.V468I|SEC61A1_ENST00000483956.1_3'UTR|SEC61A1_ENST00000424880.2_Missense_Mutation_p.V342I	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	462					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell growth (GO:0016049)|endoplasmic reticulum organization (GO:0007029)|posttranslational protein targeting to membrane (GO:0006620)|protein targeting to ER (GO:0045047)|response to interferon-gamma (GO:0034341)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)	p.V462F(1)		central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						TGAGATCTTCGTTAAGGAGCA	0.607																																																	1	Substitution - Missense(1)	ovary(1)	3											103.0	111.0	108.0					3																	127788458		2203	4300	6503	129271148	SO:0001583	missense	29927			AF077032	CCDS3046.1	3q21.3	2008-02-05			ENSG00000058262	ENSG00000058262			18276	protein-coding gene	gene with protein product		609213					Standard	NM_013336		Approved		uc003ekb.3	P61619	OTTHUMG00000159624	ENST00000243253.3:c.1384G>A	3.37:g.127788458G>A	ENSP00000243253:p.Val462Ile		129271148	P38378|P57726|Q5JPF8|Q8N0Z4|Q8N3U3|Q8NC71|Q9BU16|Q9Y2R3	Missense_Mutation	SNP	ENST00000243253.3	37	CCDS3046.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.834435	0.50951	.	.	ENSG00000058262	ENST00000464451;ENST00000243253;ENST00000424880	.	.	.	5.96	5.96	0.96718	SecY subunit domain (2);	0.055610	0.64402	N	0.000001	T	0.68659	0.3025	M	0.66939	2.045	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.62728	-0.6793	9	0.46703	T	0.11	.	20.4084	0.99013	0.0:0.0:1.0:0.0	.	462	P61619	S61A1_HUMAN	I	468;462;342	.	ENSP00000243253:V462I	V	+	1	0	SEC61A1	129271148	1.000000	0.71417	0.986000	0.45419	0.008000	0.06430	9.869000	0.99810	2.833000	0.97629	0.650000	0.86243	GTT		0.607	SEC61A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356541.2	NM_013336	
PIK3CA	5290	hgsc.bcm.edu	37	3	178936094	178936094	+	Missense_Mutation	SNP	C	C	G	rs121913286		TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr3:178936094C>G	ENST00000263967.3	+	10	1793	c.1636C>G	c.(1636-1638)Cag>Gag	p.Q546E		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	546	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		Q -> E (in BC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> K (in OC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> P (found in an anaplastic astrocytoma sample; unknown pathological significance). {ECO:0000269|PubMed:15289301}.|Q -> R (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		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.Q546K(89)|p.Q546E(12)		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)	AATCACTGAGCAGGAGAAAGA	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"""	101	Substitution - Missense(101)	large_intestine(55)|breast(17)|endometrium(15)|central_nervous_system(3)|lung(3)|ovary(3)|skin(2)|cervix(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)	3											61.0	61.0	61.0					3																	178936094		1814	4072	5886	180418788	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.1636C>G	3.37:g.178936094C>G	ENSP00000263967:p.Gln546Glu		180418788	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069293	0.55539	.	.	ENSG00000121879	ENST00000263967	T	0.61274	0.12	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.35682	0.0940	N	0.05177	-0.1	0.80722	D	1	P	0.40282	0.711	B	0.38056	0.264	T	0.40478	-0.9561	10	0.02654	T	1	-14.2064	20.0024	0.97423	0.0:1.0:0.0:0.0	.	546	P42336	PK3CA_HUMAN	E	546	ENSP00000263967:Q546E	ENSP00000263967:Q546E	Q	+	1	0	PIK3CA	180418788	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.487000	0.81328	2.722000	0.93159	0.467000	0.42956	CAG		0.358	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
PIK3CA	5290	hgsc.bcm.edu	37	3	178936098	178936098	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr3:178936098A>G	ENST00000263967.3	+	10	1797	c.1640A>G	c.(1639-1641)gAg>gGg	p.E547G		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	547	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)			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)	ACTGAGCAGGAGAAAGATTTT	0.363		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"""	0			3											62.0	62.0	62.0					3																	178936098		1812	4070	5882	180418792	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.1640A>G	3.37:g.178936098A>G	ENSP00000263967:p.Glu547Gly		180418792	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.543251	0.86022	.	.	ENSG00000121879	ENST00000263967	T	0.70399	-0.48	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85737	0.5766	M	0.87900	2.915	0.80722	D	1	D	0.67145	0.996	D	0.69479	0.964	D	0.88339	0.2973	10	0.87932	D	0	-14.9038	16.1026	0.81194	1.0:0.0:0.0:0.0	.	547	P42336	PK3CA_HUMAN	G	547	ENSP00000263967:E547G	ENSP00000263967:E547G	E	+	2	0	PIK3CA	180418792	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	8.962000	0.93254	2.198000	0.70561	0.383000	0.25322	GAG		0.363	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
PIK3CA	5290	hgsc.bcm.edu	37	3	178951964	178951964	+	Missense_Mutation	SNP	G	G	C			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr3:178951964G>C	ENST00000263967.3	+	21	3176	c.3019G>C	c.(3019-3021)Ggc>Cgc	p.G1007R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1007	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		G -> R (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.		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.G1007R(8)		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)	AATGATGCTTGGCTCTGGAAT	0.378		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"""	8	Substitution - Missense(8)	lung(3)|endometrium(3)|urinary_tract(1)|large_intestine(1)	3											114.0	103.0	106.0					3																	178951964		1886	4108	5994	180434658	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.3019G>C	3.37:g.178951964G>C	ENSP00000263967:p.Gly1007Arg		180434658	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856328	0.71834	.	.	ENSG00000121879	ENST00000263967	T	0.79749	-1.3	5.8	5.8	0.92144	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.112145	0.64402	D	0.000010	D	0.84844	0.5562	L	0.46947	1.48	0.80722	D	1	D	0.62365	0.991	P	0.56398	0.797	D	0.83385	0.0014	10	0.41790	T	0.15	-8.1028	20.0716	0.97726	0.0:0.0:1.0:0.0	.	1007	P42336	PK3CA_HUMAN	R	1007	ENSP00000263967:G1007R	ENSP00000263967:G1007R	G	+	1	0	PIK3CA	180434658	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.237000	0.95368	2.741000	0.93983	0.585000	0.79938	GGC		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
RNF168	165918	hgsc.bcm.edu	37	3	196229996	196229996	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr3:196229996C>T	ENST00000318037.3	-	1	643	c.49G>A	c.(49-51)Ggg>Agg	p.G17R		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	17					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		ATGCAGATCCCGCACTGGCAC	0.527																																																	0			3											97.0	87.0	90.0					3																	196229996		2203	4300	6503	197714393	SO:0001583	missense	165918			AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"""RING-type (C3HC4) zinc fingers"""	26661	protein-coding gene	gene with protein product		612688	"""ring finger protein 168"""			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.49G>A	3.37:g.196229996C>T	ENSP00000320898:p.Gly17Arg		197714393	Q8NA67|Q96NS4	Missense_Mutation	SNP	ENST00000318037.3	37	CCDS3317.1	.	.	.	.	.	.	.	.	.	.	C	2.440	-0.328906	0.05314	.	.	ENSG00000163961	ENST00000318037	D	0.84223	-1.82	6.0	-0.514	0.11958	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	2.310530	0.01382	N	0.012942	T	0.81054	0.4743	L	0.39397	1.21	0.09310	N	0.999995	B	0.23891	0.093	B	0.17722	0.019	T	0.61222	-0.7106	10	0.18276	T	0.48	9.3621	14.6787	0.69001	0.0:0.5678:0.2498:0.1824	.	17	Q8IYW5	RN168_HUMAN	R	17	ENSP00000320898:G17R	ENSP00000320898:G17R	G	-	1	0	RNF168	197714393	0.966000	0.33281	0.010000	0.14722	0.023000	0.10783	1.589000	0.36644	-0.410000	0.07542	-0.321000	0.08615	GGG		0.527	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1	NM_152617	
A2M	2	hgsc.bcm.edu	37	12	9230353	9230354	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	G|C	G|C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr12:9230353_9230354GC>TT	ENST00000318602.7	-	26	3526_3527	c.3219_3220GC>AA	c.(3217-3222)agGCag>agAAag	p.Q1074K	A2M_ENST00000542567.1_5'Flank	NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1074					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	TTGTCCTTCTGCCTCTGGGAGA	0.47																																																	0			12																																								9121620|9121621	SO:0001583	missense	2			BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.3219_3220delinsTT	12.37:g.9230353_9230354delinsTT	ENSP00000323929:p.Gln1074Lys		9121620|9121621	Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation|Silent	SNP	ENST00000318602.7	37	CCDS44827.1																																																																																				0.470	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014	
ABCD2	225	hgsc.bcm.edu	37	12	39979967	39979967	+	Silent	SNP	A	A	G			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr12:39979967A>G	ENST00000308666.3	-	7	1914	c.1779T>C	c.(1777-1779)gtT>gtC	p.V593V		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	593	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						CTTCTCTTTGAACTATGTGAT	0.333																																																	0			12											163.0	139.0	147.0					12																	39979967		2203	4300	6503	38266234	SO:0001819	synonymous_variant	225			U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"""ATP binding cassette transporters / subfamily D"""	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.1779T>C	12.37:g.39979967A>G			38266234	B2RAM3|Q13210|Q2M3H9	Silent	SNP	ENST00000308666.3	37	CCDS8734.1																																																																																				0.333	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164	
PCED1B	91523	hgsc.bcm.edu	37	12	47629015	47629015	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr12:47629015G>A	ENST00000546455.1	+	4	900	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	RP11-493L12.3_ENST00000547748.1_RNA|PCED1B_ENST00000432328.1_Missense_Mutation_p.E57K			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	57							hydrolase activity (GO:0016787)										GCTGAACTTCGAACAAGATGA	0.607																																																	0			12											82.0	73.0	76.0					12																	47629015		2203	4300	6503	45915282	SO:0001583	missense	91523			BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.169G>A	12.37:g.47629015G>A	ENSP00000446688:p.Glu57Lys		45915282	Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.598813	0.46318	.	.	ENSG00000179715	ENST00000546455;ENST00000432328;ENST00000549500;ENST00000549630;ENST00000551777	T;T;T;T;T	0.54866	1.4;1.4;0.9;0.9;0.55	3.79	3.79	0.43588	Esterase, SGNH hydrolase-type (1);	0.000000	0.64402	D	0.000006	T	0.68035	0.2957	M	0.76574	2.34	0.37806	D	0.927873	D	0.89917	1.0	D	0.72982	0.979	T	0.73808	-0.3866	10	0.87932	D	0	-23.3243	9.6404	0.39835	0.0:0.2128:0.7872:0.0	.	57	Q96HM7	F113B_HUMAN	K	57	ENSP00000446688:E57K;ENSP00000396040:E57K;ENSP00000449680:E57K;ENSP00000448000:E57K;ENSP00000448926:E57K	ENSP00000396040:E57K	E	+	1	0	FAM113B	45915282	1.000000	0.71417	0.056000	0.19401	0.019000	0.09904	6.112000	0.71547	2.417000	0.82017	0.655000	0.94253	GAA		0.607	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371	
ACVR1B	91	hgsc.bcm.edu	37	12	52377794	52377794	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr12:52377794T>C	ENST00000257963.4	+	5	900	c.823T>C	c.(823-825)Tgg>Cgg	p.W275R	ACVR1B_ENST00000415850.2_Missense_Mutation_p.W275R|ACVR1B_ENST00000541224.1_Missense_Mutation_p.W316R|ACVR1B_ENST00000542485.1_Missense_Mutation_p.W223R|ACVR1B_ENST00000426655.2_Missense_Mutation_p.W275R	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	275	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	TAATGGCACCTGGACACAGCT	0.448																																																	0			12											103.0	87.0	93.0					12																	52377794		2203	4300	6503	50664061	SO:0001583	missense	91				CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.823T>C	12.37:g.52377794T>C	ENSP00000257963:p.Trp275Arg		50664061	B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Missense_Mutation	SNP	ENST00000257963.4	37	CCDS8816.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.276883	0.80580	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000426655;ENST00000415850;ENST00000542485	T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01	5.26	5.26	0.73747	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73164	0.3552	L	0.45228	1.405	0.80722	D	1	D;D;D;D	0.89917	0.989;1.0;0.991;0.991	P;D;P;P	0.91635	0.888;0.999;0.903;0.852	T	0.76200	-0.3046	10	0.87932	D	0	.	15.4857	0.75564	0.0:0.0:0.0:1.0	.	316;275;275;275	P36896-4;P36896;P36896-2;P36896-3	.;ACV1B_HUMAN;.;.	R	275;316;275;275;223	ENSP00000257963:W275R;ENSP00000442656:W316R;ENSP00000390477:W275R;ENSP00000397550:W275R;ENSP00000442885:W223R	ENSP00000257963:W275R	W	+	1	0	ACVR1B	50664061	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.036000	0.88901	2.117000	0.64856	0.533000	0.62120	TGG		0.448	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397000.1	NM_020328	
NCKAP1L	3071	hgsc.bcm.edu	37	12	54914544	54914544	+	Silent	SNP	T	T	C	rs540937692	byFrequency	TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr12:54914544T>C	ENST00000293373.6	+	17	1771	c.1692T>C	c.(1690-1692)taT>taC	p.Y564Y	NCKAP1L_ENST00000545638.2_Silent_p.Y514Y	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	564					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TGTTGCGTTATGCCATTGCTT	0.458													T|||	2	0.000399361	0.0	0.0	5008	,	,		20187	0.0		0.0	False		,,,				2504	0.002																0			12											436.0	369.0	392.0					12																	54914544		2203	4300	6503	53200811	SO:0001819	synonymous_variant	3071			AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.1692T>C	12.37:g.54914544T>C			53200811	B4DUT5|Q52LW0	Silent	SNP	ENST00000293373.6	37	CCDS31813.1																																																																																				0.458	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337	
NAV3	89795	hgsc.bcm.edu	37	12	78591083	78591083	+	Silent	SNP	A	A	G			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr12:78591083A>G	ENST00000397909.2	+	35	6521	c.6348A>G	c.(6346-6348)ggA>ggG	p.G2116G	NAV3_ENST00000228327.6_Silent_p.G2094G|NAV3_ENST00000541270.1_5'Flank|NAV3_ENST00000266692.7_Silent_p.G1917G|NAV3_ENST00000536525.2_Silent_p.G2094G			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2116						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ATAATAATGGAGTGGAGCTCC	0.343										HNSCC(70;0.22)																																							0			12											124.0	114.0	117.0					12																	78591083		1843	4088	5931	77115214	SO:0001819	synonymous_variant	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.6348A>G	12.37:g.78591083A>G			77115214	Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37		.	.	.	.	.	.	.	.	.	.	A	1.704	-0.500816	0.04261	.	.	ENSG00000067798	ENST00000552895	.	.	.	5.35	-7.35	0.01422	.	.	.	.	.	T	0.38026	0.1025	.	.	.	0.41356	D	0.987398	.	.	.	.	.	.	T	0.40440	-0.9563	4	.	.	.	-9.3769	3.9409	0.09326	0.113:0.4082:0.1151:0.3637	.	.	.	.	G	989	.	.	S	+	1	0	NAV3	77115214	0.020000	0.18652	0.003000	0.11579	0.410000	0.31052	-0.182000	0.09726	-1.686000	0.01439	-1.392000	0.01152	AGT		0.343	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383	
UHRF1BP1L	23074	hgsc.bcm.edu	37	12	100497707	100497707	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr12:100497707G>A	ENST00000279907.7	-	3	442	c.230C>T	c.(229-231)aCa>aTa	p.T77I	UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.T77I	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	77										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						GATGGGATGTGTTTTCAGTTT	0.269																																																	0			12											76.0	81.0	80.0					12																	100497707		2203	4294	6497	99021838	SO:0001583	missense	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.230C>T	12.37:g.100497707G>A	ENSP00000279907:p.Thr77Ile		99021838	A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.945006	0.92593	.	.	ENSG00000111647	ENST00000279907;ENST00000356828	D;D	0.83335	-1.71;-1.71	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.92113	0.7500	M	0.82630	2.6	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.994;1.0	D	0.92715	0.6186	10	0.72032	D	0.01	-15.5275	19.437	0.94799	0.0:0.0:1.0:0.0	.	77;77	A0JNW5-2;A0JNW5	.;UH1BL_HUMAN	I	77	ENSP00000279907:T77I;ENSP00000349285:T77I	ENSP00000279907:T77I	T	-	2	0	UHRF1BP1L	99021838	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.638000	0.98445	2.587000	0.87381	0.591000	0.81541	ACA		0.269	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947	
IVD	3712	hgsc.bcm.edu	37	15	40699846	40699846	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr15:40699846A>G	ENST00000249760.2	+	2	497	c.154A>G	c.(154-156)Acc>Gcc	p.T52A	IVD_ENST00000487418.2_Missense_Mutation_p.T55A|IVD_ENST00000479013.2_Intron|IVD_ENST00000490194.1_3'UTR	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	52					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	flavin adenine dinucleotide binding (GO:0050660)|isovaleryl-CoA dehydrogenase activity (GO:0008470)	p.T52A(1)		kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)	Flavin adenine dinucleotide(DB03147)	GCTTCGTCAGACCATGGCTAA	0.537																																					GBM(31;293 617 7486 32527 34655)												1	Substitution - Missense(1)	ovary(1)	15											140.0	128.0	132.0					15																	40699846		2203	4300	6503	38487138	SO:0001583	missense	3712			AF038317	CCDS10057.1, CCDS10057.2, CCDS53930.1	15q14-q15	2010-05-11	2010-05-11		ENSG00000128928	ENSG00000128928	1.3.99.10		6186	protein-coding gene	gene with protein product		607036	"""isovaleryl Coenzyme A dehydrogenase"", ""isovaleryl CoA dehydrogenase"""			2063866	Standard	NM_002225		Approved	ACAD2	uc001zls.3	P26440	OTTHUMG00000129984	ENST00000249760.2:c.154A>G	15.37:g.40699846A>G	ENSP00000249760:p.Thr52Ala		38487138	B2RCV5|B3KVI7|J3KR54|Q53XZ9|Q96AF6	Missense_Mutation	SNP	ENST00000249760.2	37		.	.	.	.	.	.	.	.	.	.	A	10.87	1.472625	0.26423	.	.	ENSG00000128928	ENST00000249760;ENST00000487418	D;D	0.99706	-6.47;-6.47	5.27	4.16	0.48862	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.049858	0.85682	D	0.000000	D	0.97654	0.9231	N	0.17345	0.48	0.58432	D	0.999994	B	0.06786	0.001	B	0.12156	0.007	D	0.97607	1.0127	10	0.13470	T	0.59	.	9.741	0.40418	0.9225:0.0:0.0775:0.0	.	52	P26440	IVD_HUMAN	A	52;55	ENSP00000249760:T52A;ENSP00000418397:T55A	ENSP00000249760:T52A	T	+	1	0	IVD	38487138	1.000000	0.71417	0.995000	0.50966	0.971000	0.66376	4.203000	0.58453	1.028000	0.39785	-0.250000	0.11733	ACC		0.537	IVD-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			
RTF1	23168	hgsc.bcm.edu	37	15	41730613	41730613	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr15:41730613C>T	ENST00000389629.4	+	2	305	c.293C>T	c.(292-294)tCt>tTt	p.S98F	RTF1_ENST00000462276.1_3'UTR	NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	98					DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		TCGGAGACGTCTGACAGTGAC	0.577																																																	0			15											56.0	55.0	55.0					15																	41730613		692	1591	2283	39517905	SO:0001583	missense	23168			D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"""KIAA0252"""	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.293C>T	15.37:g.41730613C>T	ENSP00000374280:p.Ser98Phe		39517905	Q96BX6	Missense_Mutation	SNP	ENST00000389629.4	37	CCDS32200.2	.	.	.	.	.	.	.	.	.	.	C	22.2	4.256738	0.80246	.	.	ENSG00000137815	ENST00000389629	.	.	.	5.1	5.1	0.69264	.	0.000000	0.64402	U	0.000001	T	0.77785	0.4182	M	0.67397	2.05	0.80722	D	1	D	0.61697	0.99	D	0.69142	0.962	T	0.80487	-0.1361	9	0.87932	D	0	-5.1711	18.1099	0.89532	0.0:1.0:0.0:0.0	.	98	Q92541	RTF1_HUMAN	F	98	.	ENSP00000374280:S98F	S	+	2	0	RTF1	39517905	1.000000	0.71417	0.239000	0.24122	0.647000	0.38526	6.929000	0.75852	2.381000	0.81170	0.462000	0.41574	TCT		0.577	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258111.1	NM_015138	
TCF12	6938	hgsc.bcm.edu	37	15	57543589	57543589	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr15:57543589T>C	ENST00000267811.5	+	14	1460	c.1156T>C	c.(1156-1158)Tcc>Ccc	p.S386P	TCF12_ENST00000343827.3_Missense_Mutation_p.S216P|TCF12_ENST00000559703.1_Missense_Mutation_p.S20P|TCF12_ENST00000559710.1_Missense_Mutation_p.S20P|TCF12_ENST00000452095.2_Missense_Mutation_p.S382P|TCF12_ENST00000543579.1_Missense_Mutation_p.S216P|TCF12_ENST00000557843.1_Missense_Mutation_p.S386P|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000438423.2_Missense_Mutation_p.S386P|TCF12_ENST00000333725.5_Missense_Mutation_p.S386P|TCF12_ENST00000537840.1_Missense_Mutation_p.S150P	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	386					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		AGCACCTTCATCCCCAAGCTA	0.443			T	TEC	extraskeletal myxoid chondrosarcoma																																			Dom	yes		15	15q21	6938	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""		M	0			15											146.0	118.0	128.0					15																	57543589		2192	4292	6484	55330881	SO:0001583	missense	6938			BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.1156T>C	15.37:g.57543589T>C	ENSP00000267811:p.Ser386Pro		55330881	Q7Z3D9|Q86TC1|Q86VM2	Missense_Mutation	SNP	ENST00000267811.5	37	CCDS10159.1	.	.	.	.	.	.	.	.	.	.	T	31	5.088405	0.94100	.	.	ENSG00000140262	ENST00000543236;ENST00000267811;ENST00000438423;ENST00000452095;ENST00000333725;ENST00000543579;ENST00000537840;ENST00000343827	T;T;T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01;0.01;0.01	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.81113	0.4755	M	0.83223	2.63	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.995;0.999;1.0;0.995;1.0;1.0;0.997;0.995;0.997	D;D;D;D;D;D;D;D;D	0.85130	0.979;0.993;0.997;0.992;0.997;0.997;0.991;0.979;0.991	D	0.84007	0.0346	10	0.87932	D	0	-20.4826	16.3265	0.82983	0.0:0.0:0.0:1.0	.	20;216;150;382;438;216;216;386;386	B4DZP2;B4DH96;B4E1W1;E9PGY0;F5H6Z6;F5GY10;Q99081-2;Q99081;Q99081-3	.;.;.;.;.;.;.;HTF4_HUMAN;.	P	438;386;386;382;386;216;150;216	ENSP00000267811:S386P;ENSP00000388940:S386P;ENSP00000396881:S382P;ENSP00000331057:S386P;ENSP00000440017:S216P;ENSP00000444696:S150P;ENSP00000342459:S216P	ENSP00000267811:S386P	S	+	1	0	TCF12	55330881	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.973000	0.70456	2.313000	0.78055	0.455000	0.32223	TCC		0.443	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205	
SCAPER	49855	hgsc.bcm.edu	37	15	77087666	77087666	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr15:77087666G>A	ENST00000563290.1	-	8	822	c.727C>T	c.(727-729)Cag>Tag	p.Q243*	SCAPER_ENST00000324767.7_Nonsense_Mutation_p.Q243*|SCAPER_ENST00000562890.1_5'UTR|SCAPER_ENST00000538941.2_5'UTR			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	243						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						GGGCAAGACTGGGCGGGTGTT	0.488																																																	0			15											135.0	133.0	133.0					15																	77087666		1926	4130	6056	74874721	SO:0001587	stop_gained	49855			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.727C>T	15.37:g.77087666G>A	ENSP00000454973:p.Gln243*		74874721	F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Nonsense_Mutation	SNP	ENST00000563290.1	37	CCDS53962.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035374	0.75617	.	.	ENSG00000140386	ENST00000324767;ENST00000303521	.	.	.	5.53	5.53	0.82687	.	0.157436	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	19.4467	0.94851	0.0:0.0:1.0:0.0	.	.	.	.	X	243;259	.	ENSP00000303560:Q259X	Q	-	1	0	SCAPER	74874721	1.000000	0.71417	0.054000	0.19295	0.306000	0.27790	6.676000	0.74498	2.612000	0.88384	0.484000	0.47621	CAG		0.488	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843	
IL1RAPL1	11141	hgsc.bcm.edu	37	X	29972756	29972756	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chrX:29972756A>G	ENST00000378993.1	+	10	1992	c.1319A>G	c.(1318-1320)aAg>aGg	p.K440R	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.K440R	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	440	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						ATGCTTGAAAAGCATTATGGA	0.378																																																	0			X											94.0	82.0	86.0					X																	29972756		2202	4300	6502	29882677	SO:0001583	missense	11141			AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.1319A>G	X.37:g.29972756A>G	ENSP00000368278:p.Lys440Arg		29882677	A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.670803	0.88348	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.08807	3.05;3.05	5.81	5.81	0.92471	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.000000	0.85682	D	0.000000	T	0.20981	0.0505	L	0.48218	1.51	0.58432	D	0.999994	P	0.50443	0.935	P	0.62740	0.906	T	0.00523	-1.1690	9	.	.	.	.	15.1467	0.72657	1.0:0.0:0.0:0.0	.	440	Q9NZN1	IRPL1_HUMAN	R	440	ENSP00000368278:K440R;ENSP00000305200:K440R	.	K	+	2	0	IL1RAPL1	29882677	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	1.960000	0.56953	0.481000	0.45027	AAG		0.378	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271	
IL1RAPL1	11141	hgsc.bcm.edu	37	X	29972784	29972784	+	Silent	SNP	A	A	G			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chrX:29972784A>G	ENST00000378993.1	+	10	2020	c.1347A>G	c.(1345-1347)ccA>ccG	p.P449P	IL1RAPL1_ENST00000302196.4_Silent_p.P449P	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	449	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TGTTTATACCAGATAGAGATT	0.368																																																	0			X											78.0	73.0	75.0					X																	29972784		2202	4300	6502	29882705	SO:0001819	synonymous_variant	11141			AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.1347A>G	X.37:g.29972784A>G			29882705	A0AVG4|Q9UJ53	Silent	SNP	ENST00000378993.1	37	CCDS14218.1																																																																																				0.368	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271	
USP11	8237	hgsc.bcm.edu	37	X	47102927	47102927	+	Silent	SNP	C	C	T			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chrX:47102927C>T	ENST00000218348.3	+	13	1845	c.1845C>T	c.(1843-1845)caC>caT	p.H615H	USP11_ENST00000377107.2_Silent_p.H572H	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	615	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						TTTTTGGACACCCCCTCCTGG	0.607																																																	0			X											105.0	80.0	89.0					X																	47102927		2203	4300	6503	46987871	SO:0001819	synonymous_variant	8237			U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.1845C>T	X.37:g.47102927C>T			46987871	B2RTX1|Q8IUG6|Q9BWE1	Silent	SNP	ENST00000218348.3	37	CCDS14277.1																																																																																				0.607	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651	
CLCN5	1184	hgsc.bcm.edu	37	X	49851179	49851179	+	Silent	SNP	A	A	G			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chrX:49851179A>G	ENST00000307367.2	+	8	1290	c.999A>G	c.(997-999)ggA>ggG	p.G333G	CLCN5_ENST00000376108.3_Silent_p.G333G|CLCN5_ENST00000376091.3_Silent_p.G403G|CLCN5_ENST00000376088.3_Silent_p.G403G			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	333					chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					GTCTGTGGGGAGCACTGTTTA	0.507																																																	0			X											103.0	79.0	87.0					X																	49851179		2203	4300	6503	49737919	SO:0001819	synonymous_variant	1184			X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"""Ion channels / Chloride channels : Voltage-sensitive"""	2023	protein-coding gene	gene with protein product	"""Dent disease"""	300008	"""nephrolithiasis 2, X-linked"", ""nephrolithiasis 1 (X-linked)"", ""chloride channel 5"""	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.999A>G	X.37:g.49851179A>G			49737919	A1L475|B3KPN6|Q5JQD5|Q7RTN8	Silent	SNP	ENST00000307367.2	37	CCDS14328.1																																																																																				0.507	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1		
CXCR3	2833	hgsc.bcm.edu	37	X	70836933	70836933	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chrX:70836933A>G	ENST00000373693.3	-	2	456	c.389T>C	c.(388-390)cTc>cCc	p.L130P	CXCR3_ENST00000373691.4_Missense_Mutation_p.L177P	NM_001504.1	NP_001495.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3	130					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|calcium-mediated signaling (GO:0019722)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|chemokine (C-C motif) ligand 11 production (GO:0071954)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of leukocyte migration (GO:0002685)|T cell chemotaxis (GO:0010818)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|chemokine binding (GO:0019956)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					GATGTTGAAGAGGGCACCTGC	0.612																																																	0			X											20.0	16.0	17.0					X																	70836933		2200	4292	6492	70753658	SO:0001583	missense	2833			U32674	CCDS14416.1, CCDS48135.1	Xq13	2012-08-08	2002-08-22	2002-08-23	ENSG00000186810	ENSG00000186810		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	4540	protein-coding gene	gene with protein product		300574	"""G protein-coupled receptor 9"""	GPR9		8666380, 9064356	Standard	NM_001142797		Approved	CKR-L2, CMKAR3, IP10-R, MigR, CD183	uc011mpx.2	P49682	OTTHUMG00000033326	ENST00000373693.3:c.389T>C	X.37:g.70836933A>G	ENSP00000362797:p.Leu130Pro		70753658	B2R982|O15185|Q7Z710|Q9P2T4|Q9P2T5	Missense_Mutation	SNP	ENST00000373693.3	37	CCDS14416.1	.	.	.	.	.	.	.	.	.	.	A	11.44	1.640364	0.29157	.	.	ENSG00000186810	ENST00000373691;ENST00000373693;ENST00000373687	T;T	0.47177	0.85;0.85	5.44	5.44	0.79542	GPCR, rhodopsin-like superfamily (1);	0.326711	0.28225	N	0.016138	T	0.74306	0.3699	M	0.93106	3.38	0.54753	D	0.999982	D;D	0.76494	0.999;0.999	D;D	0.80764	0.964;0.994	T	0.80670	-0.1279	10	0.87932	D	0	.	12.1786	0.54199	1.0:0.0:0.0:0.0	.	177;130	P49682-2;P49682	.;CXCR3_HUMAN	P	177;130;130	ENSP00000362795:L177P;ENSP00000362797:L130P	ENSP00000362791:L130P	L	-	2	0	CXCR3	70753658	0.934000	0.31675	0.990000	0.47175	0.002000	0.02628	5.886000	0.69743	2.006000	0.58801	0.481000	0.45027	CTC		0.612	CXCR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144141.1		
THOC2	57187	hgsc.bcm.edu	37	X	122760389	122760389	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chrX:122760389T>C	ENST00000245838.8	-	24	2913	c.2882A>G	c.(2881-2883)gAc>gGc	p.D961G	THOC2_ENST00000491737.1_Missense_Mutation_p.D846G|THOC2_ENST00000355725.4_Missense_Mutation_p.D961G	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	961					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						AAGCCAGTTGTCCTTTTCCAG	0.378																																																	0			X											180.0	157.0	164.0					X																	122760389		1841	4083	5924	122588070	SO:0001583	missense	57187			AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.2882A>G	X.37:g.122760389T>C	ENSP00000245838:p.Asp961Gly		122588070	A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.989729	0.74589	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737	T;T;T	0.21932	1.98;1.98;1.98	5.83	5.83	0.93111	THO complex, subunitTHOC2, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.52025	0.1709	M	0.87038	2.855	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.56890	-0.7904	10	0.41790	T	0.15	-11.54	15.1686	0.72850	0.0:0.0:0.0:1.0	.	961	Q8NI27	THOC2_HUMAN	G	961;961;846	ENSP00000245838:D961G;ENSP00000347959:D961G;ENSP00000419795:D846G	ENSP00000245838:D961G	D	-	2	0	THOC2	122588070	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	1.965000	0.57142	0.486000	0.48141	GAC		0.378	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3		
ZNF280C	55609	hgsc.bcm.edu	37	X	129377605	129377605	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chrX:129377605A>G	ENST00000370978.4	-	5	466	c.313T>C	c.(313-315)Tcg>Ccg	p.S105P		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	105	Ser-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)			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						AATCTAGGCGAGGCAGCCACT	0.353																																																	0			X											63.0	66.0	65.0					X																	129377605		2203	4300	6503	129205286	SO:0001583	missense	55609			AL834333	CCDS14622.1	Xq25	2008-05-02	2007-09-20	2007-09-20	ENSG00000056277	ENSG00000056277			25955	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 3 (Drosophila)"""	SUHW3		12477932	Standard	NM_017666		Approved	FLJ20095, ZNF633	uc004evm.3	Q8ND82	OTTHUMG00000022393	ENST00000370978.4:c.313T>C	X.37:g.129377605A>G	ENSP00000360017:p.Ser105Pro		129205286	A8K2V8|Q9NXR3	Missense_Mutation	SNP	ENST00000370978.4	37	CCDS14622.1	.	.	.	.	.	.	.	.	.	.	A	11.24	1.581225	0.28180	.	.	ENSG00000056277	ENST00000066465;ENST00000370978;ENST00000447817	T;T	0.25912	1.77;1.77	3.62	3.62	0.41486	.	.	.	.	.	T	0.29491	0.0735	L	0.39898	1.24	0.09310	N	1	B;P	0.42993	0.004;0.797	B;P	0.51101	0.021;0.659	T	0.07046	-1.0793	9	0.34782	T	0.22	.	7.8624	0.29517	1.0:0.0:0.0:0.0	.	105;105	Q9UJJ2;Q8ND82	.;Z280C_HUMAN	P	105	ENSP00000360017:S105P;ENSP00000408521:S105P	ENSP00000066465:S105P	S	-	1	0	ZNF280C	129205286	0.006000	0.16342	0.013000	0.15412	0.011000	0.07611	1.588000	0.36633	1.441000	0.47550	0.412000	0.27726	TCG		0.353	ZNF280C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058251.1	NM_017666	
MAP7D3	79649	hgsc.bcm.edu	37	X	135314029	135314029	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chrX:135314029C>A	ENST00000316077.9	-	8	1307	c.1087G>T	c.(1087-1089)Gag>Tag	p.E363*	MAP7D3_ENST00000370663.5_Nonsense_Mutation_p.E345*|MAP7D3_ENST00000495432.1_5'Flank|MAP7D3_ENST00000370661.1_Nonsense_Mutation_p.E328*	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	363					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					ATGCTCAACTCGGGGGATGCG	0.592																																																	0			X											69.0	72.0	71.0					X																	135314029		2155	4235	6390	135141695	SO:0001587	stop_gained	79649			AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.1087G>T	X.37:g.135314029C>A	ENSP00000318086:p.Glu363*		135141695	A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Nonsense_Mutation	SNP	ENST00000316077.9	37	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.551129	0.86127	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	.	.	.	4.34	-1.84	0.07809	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	6.8805	9.6831	0.40082	0.0:0.4441:0.0:0.5559	.	.	.	.	X	328;363;345;322	.	ENSP00000318086:E363X	E	-	1	0	MAP7D3	135141695	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.605000	0.05661	-0.472000	0.06881	-1.050000	0.02344	GAG		0.592	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2		
SLC10A3	8273	hgsc.bcm.edu	37	X	153717032	153717032	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chrX:153717032T>C	ENST00000393587.4	-	3	511	c.248A>G	c.(247-249)gAg>gGg	p.E83G	SLC10A3_ENST00000369649.4_Missense_Mutation_p.E83G|UBL4A_ENST00000477777.1_5'Flank|UBL4A_ENST00000369653.4_5'Flank|SLC10A3_ENST00000393586.1_Missense_Mutation_p.E138G|SLC10A3_ENST00000263512.4_Missense_Mutation_p.E83G|UBL4A_ENST00000369660.4_5'Flank	NM_001142391.1|NM_001142392.1	NP_001135863.1|NP_001135864.1	P09131	P3_HUMAN	solute carrier family 10, member 3	83					response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GATGATGCCCTCACTGTCCTC	0.622																																																	0			X											157.0	123.0	134.0					X																	153717032		2203	4300	6503	153370226	SO:0001583	missense	8273			X12458	CCDS14755.1, CCDS48195.1	Xq28	2013-07-18	2013-07-18		ENSG00000126903	ENSG00000126903		"""Solute carriers"""	22979	protein-coding gene	gene with protein product		312090				8733135	Standard	NM_019848		Approved	P3, DXS253E	uc004flq.3	P09131	OTTHUMG00000013369	ENST00000393587.4:c.248A>G	X.37:g.153717032T>C	ENSP00000377212:p.Glu83Gly		153370226	Q5HY79|Q9BSL2	Missense_Mutation	SNP	ENST00000393587.4	37	CCDS14755.1	.	.	.	.	.	.	.	.	.	.	T	17.80	3.478121	0.63849	.	.	ENSG00000126903	ENST00000369649;ENST00000393586;ENST00000263512;ENST00000393587;ENST00000453912	T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86	4.88	4.88	0.63580	.	0.494750	0.19637	U	0.109527	T	0.28400	0.0702	M	0.68317	2.08	0.27945	N	0.937377	B;B	0.31026	0.255;0.304	B;B	0.26693	0.053;0.072	T	0.26744	-1.0094	10	0.72032	D	0.01	-14.4909	12.5528	0.56236	0.0:0.0:0.0:1.0	.	83;83	Q9BSL2;P09131	.;P3_HUMAN	G	83;138;83;83;83	ENSP00000358663:E83G;ENSP00000377211:E138G;ENSP00000263512:E83G;ENSP00000377212:E83G;ENSP00000395702:E83G	ENSP00000263512:E83G	E	-	2	0	SLC10A3	153370226	0.997000	0.39634	1.000000	0.80357	0.988000	0.76386	4.016000	0.57159	1.808000	0.52836	0.430000	0.28490	GAG		0.622	SLC10A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037235.3	NM_019848	
LDB2	9079	hgsc.bcm.edu	37	4	16597494	16597494	+	Silent	SNP	G	G	A	rs546170586	byFrequency	TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr4:16597494G>A	ENST00000304523.5	-	3	563	c.240C>T	c.(238-240)atC>atT	p.I80I	LDB2_ENST00000503178.2_5'UTR|LDB2_ENST00000515064.1_Silent_p.I80I|LDB2_ENST00000502640.1_Silent_p.I80I|LDB2_ENST00000441778.2_Silent_p.I80I|LDB2_ENST00000503829.1_5'UTR	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	80					epithelial structure maintenance (GO:0010669)|hair follicle development (GO:0001942)|positive regulation of cellular component biogenesis (GO:0044089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell maintenance (GO:0035019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	LIM domain binding (GO:0030274)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						GGGTCCTGCCGATAGCTGGGA	0.473													G|||	2	0.000399361	0.0008	0.0	5008	,	,		16237	0.001		0.0	False		,,,				2504	0.0																0			4											49.0	46.0	47.0					4																	16597494		2203	4300	6503	16206592	SO:0001819	synonymous_variant	9079			AF068651	CCDS3420.1, CCDS47031.1	4p16	2008-08-01			ENSG00000169744	ENSG00000169744			6533	protein-coding gene	gene with protein product		603450				9853615, 9880598, 10861853	Standard	NM_001290		Approved	CLIM1, LDB1	uc003goz.3	O43679	OTTHUMG00000048212	ENST00000304523.5:c.240C>T	4.37:g.16597494G>A			16206592	O60619|O75480	Silent	SNP	ENST00000304523.5	37	CCDS3420.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.931054	0.34096	.	.	ENSG00000169744	ENST00000507464	.	.	.	5.6	2.03	0.26663	.	.	.	.	.	T	0.52821	0.1758	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43147	-0.9409	4	.	.	.	-26.8944	5.9101	0.19023	0.5705:0.0:0.4295:0.0	.	.	.	.	L	2	.	.	S	-	2	0	LDB2	16206592	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.164000	0.31810	0.641000	0.30601	0.563000	0.77884	TCG		0.473	LDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250321.2		
HPGDS	27306	hgsc.bcm.edu	37	4	95239101	95239101	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr4:95239101T>C	ENST00000295256.5	-	3	239	c.149A>G	c.(148-150)aAa>aGa	p.K50R	HPGDS_ENST00000514774.1_5'UTR	NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	50	GST N-terminal.				arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|glutathione derivative biosynthetic process (GO:1901687)|locomotory behavior (GO:0007626)|prostaglandin metabolic process (GO:0006693)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	calcium ion binding (GO:0005509)|glutathione transferase activity (GO:0004364)|magnesium ion binding (GO:0000287)|prostaglandin-D synthase activity (GO:0004667)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	AATGGGGATTTTTCCAAATGG	0.333																																					Colon(86;1802 1843 17863 46794)												0			4											79.0	79.0	79.0					4																	95239101		2203	4299	6502	95458124	SO:0001583	missense	0			D82073	CCDS3640.1	4q22.2	2012-06-21			ENSG00000163106	ENSG00000163106		"""Glutathione S-transferases / Soluble"""	17890	protein-coding gene	gene with protein product	"""glutathione S-transferase sigma"""	602598				9323136, 9353279, 11672424	Standard	XM_005262932		Approved	GSTS, PGDS, H-PGDS, PGD2, GSTS1-1	uc003hte.1	O60760	OTTHUMG00000130974	ENST00000295256.5:c.149A>G	4.37:g.95239101T>C	ENSP00000295256:p.Lys50Arg		95458124	Q6FHT9	Missense_Mutation	SNP	ENST00000295256.5	37	CCDS3640.1	.	.	.	.	.	.	.	.	.	.	T	13.47	2.245379	0.39697	.	.	ENSG00000163106	ENST00000295256	T	0.06142	3.34	5.48	5.48	0.80851	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.075249	0.56097	D	0.000037	T	0.18676	0.0448	L	0.49256	1.55	0.42258	D	0.992006	D	0.61080	0.989	D	0.77004	0.989	T	0.00321	-1.1819	10	0.62326	D	0.03	.	11.961	0.53009	0.0:0.0:0.0:1.0	.	50	O60760	HPGDS_HUMAN	R	50	ENSP00000295256:K50R	ENSP00000295256:K50R	K	-	2	0	HPGDS	95458124	1.000000	0.71417	0.998000	0.56505	0.821000	0.46438	4.849000	0.62882	2.081000	0.62600	0.528000	0.53228	AAA		0.333	HPGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253587.1	NM_014485	
ANK2	287	hgsc.bcm.edu	37	4	114204004	114204004	+	Silent	SNP	A	A	G			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr4:114204004A>G	ENST00000357077.4	+	18	2108	c.2055A>G	c.(2053-2055)ggA>ggG	p.G685G	ANK2_ENST00000394537.3_Silent_p.G685G|ANK2_ENST00000264366.6_Silent_p.G685G|ANK2_ENST00000506722.1_Silent_p.G664G	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	685			G -> E (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGGATAAGGGAGCCAATATCC	0.458																																																	0			4											134.0	97.0	110.0					4																	114204004		2203	4300	6503	114423453	SO:0001819	synonymous_variant	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.2055A>G	4.37:g.114204004A>G			114423453	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	CCDS3702.1																																																																																				0.458	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	
FBXW7	55294	hgsc.bcm.edu	37	4	153249369	153249369	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr4:153249369T>C	ENST00000281708.4	-	9	2638	c.1409A>G	c.(1408-1410)cAt>cGt	p.H470R	FBXW7_ENST00000603841.1_Missense_Mutation_p.H470R|FBXW7_ENST00000393956.3_Missense_Mutation_p.H294R|FBXW7_ENST00000263981.5_Missense_Mutation_p.H390R|FBXW7_ENST00000296555.5_Missense_Mutation_p.H352R|FBXW7_ENST00000603548.1_Missense_Mutation_p.H470R	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	470					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.H470P(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)				CCTTTTTTCATGAAGATGCAT	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	Substitution - Missense(1)|Unknown(1)	haematopoietic_and_lymphoid_tissue(2)	4											206.0	183.0	191.0					4																	153249369		2203	4300	6503	153468819	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.1409A>G	4.37:g.153249369T>C	ENSP00000281708:p.His470Arg		153468819	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	T	11.29	1.595946	0.28445	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.61510	0.1;0.1;0.1;0.1	5.84	5.84	0.93424	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	T	0.49881	0.1583	L	0.39514	1.22	0.80722	D	1	B;B;B;B	0.29612	0.067;0.251;0.054;0.054	B;B;B;B	0.26517	0.023;0.07;0.013;0.024	T	0.45071	-0.9286	10	0.34782	T	0.22	-19.3583	16.2194	0.82247	0.0:0.0:0.0:1.0	.	294;470;352;390	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	R	470;352;390;294	ENSP00000281708:H470R;ENSP00000296555:H352R;ENSP00000263981:H390R;ENSP00000377528:H294R	ENSP00000263981:H390R	H	-	2	0	FBXW7	153468819	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	2.234000	0.73211	0.528000	0.53228	CAT		0.418	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		
FGB	2244	hgsc.bcm.edu	37	4	155491582	155491582	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr4:155491582A>G	ENST00000302068.4	+	8	1319	c.1256A>G	c.(1255-1257)gAt>gGt	p.D419G	FGB_ENST00000509493.1_Missense_Mutation_p.D200G|FGB_ENST00000502545.1_3'UTR	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	419	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TTAACATCAGATCCCAGAAAA	0.423																																					NSCLC(106;1133 1613 21870 46110 52656)												0			4											92.0	82.0	85.0					4																	155491582		2203	4300	6503	155711032	SO:0001583	missense	2244				CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3662	protein-coding gene	gene with protein product		134830	"""fibrinogen, B beta polypeptide"""				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.1256A>G	4.37:g.155491582A>G	ENSP00000306099:p.Asp419Gly		155711032	A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	ENST00000302068.4	37	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	A	16.59	3.166697	0.57476	.	.	ENSG00000171564	ENST00000302068;ENST00000537843;ENST00000509493	T;T	0.81330	-1.48;-1.48	5.62	5.62	0.85841	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.043120	0.85682	D	0.000000	D	0.90000	0.6878	M	0.81179	2.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.91209	0.4997	10	0.72032	D	0.01	.	16.1203	0.81346	1.0:0.0:0.0:0.0	.	402;419	B4E1D3;P02675	.;FIBB_HUMAN	G	419;402;200	ENSP00000306099:D419G;ENSP00000426757:D200G	ENSP00000306099:D419G	D	+	2	0	FGB	155711032	1.000000	0.71417	0.999000	0.59377	0.035000	0.12851	9.218000	0.95166	2.274000	0.75844	0.533000	0.62120	GAT		0.423	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141	
MYT1L	23040	hgsc.bcm.edu	37	2	1893031	1893031	+	Silent	SNP	G	G	A	rs562364952	byFrequency	TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr2:1893031G>A	ENST00000399161.2	-	16	3249	c.2502C>T	c.(2500-2502)gaC>gaT	p.D834D	MYT1L_ENST00000428368.2_Silent_p.D832D	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	834					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CTTTGGACTCGTCCTCGTCTA	0.507													G|||	2	0.000399361	0.0	0.0	5008	,	,		15924	0.002		0.0	False		,,,				2504	0.0																0			2											82.0	85.0	84.0					2																	1893031		1968	4134	6102	1872038	SO:0001819	synonymous_variant	23040			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.2502C>T	2.37:g.1893031G>A			1872038	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	37																																																																																					0.507	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025	
MAP4K3	8491	hgsc.bcm.edu	37	2	39553323	39553323	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr2:39553323T>C	ENST00000263881.3	-	9	950	c.626A>G	c.(625-627)gAg>gGg	p.E209G	MAP4K3_ENST00000341681.5_Missense_Mutation_p.E209G|RP11-449G16.1_ENST00000609671.1_RNA|MAP4K3_ENST00000437545.1_Missense_Mutation_p.E146G|MAP4K3_ENST00000536018.1_5'Flank	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	209	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				AGGCTGAAGCTCTGCAAGTTC	0.458																																																	0			2											125.0	123.0	124.0					2																	39553323		2203	4300	6503	39406827	SO:0001583	missense	8491			AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.626A>G	2.37:g.39553323T>C	ENSP00000263881:p.Glu209Gly		39406827	Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Missense_Mutation	SNP	ENST00000263881.3	37	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	T	31	5.086554	0.94100	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681	T;T;T	0.24350	1.86;2.55;1.86	5.68	5.68	0.88126	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	0.43700	0.1259	L	0.43923	1.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.991;0.999	T	0.16276	-1.0408	9	.	.	.	.	15.9136	0.79491	0.0:0.0:0.0:1.0	.	209;209	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	G	209;146;209	ENSP00000263881:E209G;ENSP00000416958:E146G;ENSP00000345434:E209G	.	E	-	2	0	MAP4K3	39406827	1.000000	0.71417	0.998000	0.56505	0.951000	0.60555	7.848000	0.86902	2.154000	0.67381	0.477000	0.44152	GAG		0.458	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618	
DYSF	8291	hgsc.bcm.edu	37	2	71892301	71892301	+	Silent	SNP	G	G	A			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr2:71892301G>A	ENST00000258104.3	+	46	5344	c.5067G>A	c.(5065-5067)ccG>ccA	p.P1689P	DYSF_ENST00000413539.2_Silent_p.P1720P|DYSF_ENST00000410020.3_Silent_p.P1728P|DYSF_ENST00000409762.1_Silent_p.P1706P|DYSF_ENST00000429174.2_Silent_p.P1710P|DYSF_ENST00000409366.1_Silent_p.P1711P|DYSF_ENST00000394120.2_Silent_p.P1690P|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409651.1_Silent_p.P1721P|DYSF_ENST00000409744.1_Silent_p.P1697P|DYSF_ENST00000410041.1_Silent_p.P1707P|DYSF_ENST00000409582.3_Silent_p.P1727P	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1689					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						GCTCTGGACCGAACCAGTGGC	0.577																																																	0			2											109.0	105.0	106.0					2																	71892301		2203	4300	6503	71745809	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.5067G>A	2.37:g.71892301G>A			71745809	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																																																																																				0.577	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494	
IL36B	27177	hgsc.bcm.edu	37	2	113786565	113786565	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr2:113786565A>G	ENST00000259213.4	-	4	319	c.212T>C	c.(211-213)cTc>cCc	p.L71P	IL36B_ENST00000327407.2_Missense_Mutation_p.L71P	NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	71					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-1 receptor binding (GO:0005149)			kidney(1)|ovary(1)|pancreas(1)	3						GAAGAGACAGAGATCTTTTCC	0.418																																																	0			2											187.0	164.0	172.0					2																	113786565		2203	4300	6503	113503036	SO:0001583	missense	27177			AF201833	CCDS2109.1, CCDS2110.1	2q14	2011-07-14	2011-06-06	2011-06-06	ENSG00000136696	ENSG00000136696		"""Interleukins and interleukin receptors"""	15564	protein-coding gene	gene with protein product		605508	"""interleukin 1 family, member 8 (eta)"""	IL1F8		10625660, 10512743, 16646978	Standard	NM_173178		Approved	FIL1, IL-1H2, IL-1F8, FILI-(ETA), IL1-ETA, IL1H2, MGC126880, MGC126882	uc002tiq.1	Q9NZH7	OTTHUMG00000131338	ENST00000259213.4:c.212T>C	2.37:g.113786565A>G	ENSP00000259213:p.Leu71Pro		113503036	Q3MIH0|Q53SR6|Q7RTZ7|Q9UHA5	Missense_Mutation	SNP	ENST00000259213.4	37	CCDS2109.1	.	.	.	.	.	.	.	.	.	.	a	13.14	2.147042	0.37923	.	.	ENSG00000136696	ENST00000259213;ENST00000327407	T;T	0.29655	1.9;1.56	4.38	3.2	0.36748	.	0.333042	0.21766	N	0.069422	T	0.47021	0.1423	M	0.63843	1.955	0.09310	N	0.999999	D;D	0.76494	0.999;0.997	D;D	0.72075	0.976;0.952	T	0.26258	-1.0108	10	0.66056	D	0.02	.	7.3442	0.26654	0.8047:0.0:0.0:0.1953	.	71;71	Q9NZH7-2;Q9NZH7	.;IL36B_HUMAN	P	71	ENSP00000259213:L71P;ENSP00000328420:L71P	ENSP00000259213:L71P	L	-	2	0	IL36B	113503036	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	1.045000	0.30341	0.632000	0.30432	0.454000	0.30748	CTC		0.418	IL36B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254110.1	NM_014438	
NEB	4703	hgsc.bcm.edu	37	2	152390749	152390749	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr2:152390749C>T	ENST00000172853.10	-	115	16441	c.16294G>A	c.(16294-16296)Gca>Aca	p.A5432T	NEB_ENST00000603639.1_Intron|NEB_ENST00000604864.1_Missense_Mutation_p.A7133T|NEB_ENST00000397345.3_Intron|NEB_ENST00000427231.2_Missense_Mutation_p.A7133T|NEB_ENST00000409198.1_Missense_Mutation_p.A5432T			P20929	NEBU_HUMAN	nebulin	5432				AG -> RS (in Ref. 1; CAA58788). {ECO:0000305}.	muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGGTCGCCTGCGGTCTTAGCC	0.517																																																	0			2											193.0	196.0	195.0					2																	152390749		1996	4177	6173	152098995	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.16294G>A	2.37:g.152390749C>T	ENSP00000172853:p.Ala5432Thr		152098995	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	C	16.62	3.173137	0.57584	.	.	ENSG00000183091	ENST00000409198;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	6.03	5.16	0.70880	.	0.209030	0.49916	N	0.000129	T	0.33235	0.0856	N	0.21324	0.655	0.80722	D	1	B;D	0.53885	0.015;0.963	B;B	0.38264	0.014;0.269	T	0.28808	-1.0032	10	0.06236	T	0.91	.	15.3416	0.74303	0.0:0.9335:0.0:0.0665	.	5432;1863	P20929;Q14215	NEBU_HUMAN;.	T	5432;7133;1481;1863;5432	ENSP00000386259:A5432T;ENSP00000416578:A7133T;ENSP00000410961:A1863T;ENSP00000172853:A5432T	ENSP00000172853:A5432T	A	-	1	0	NEB	152098995	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.400000	0.59709	1.569000	0.49696	0.655000	0.94253	GCA		0.517	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
TTN	7273	hgsc.bcm.edu	37	2	179458387	179458387	+	Missense_Mutation	SNP	C	C	T	rs374713701		TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr2:179458387C>T	ENST00000591111.1	-	248	53941	c.53717G>A	c.(53716-53718)gGa>gAa	p.G17906E	TTN_ENST00000589042.1_Missense_Mutation_p.G19547E|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G10607E|TTN_ENST00000460472.2_Missense_Mutation_p.G10482E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G16979E|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G10674E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17906	Fibronectin type-III 29. {ECO:0000255|PROSITE-ProRule:PRU00316}.		G -> E (in a metastatic melanoma 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)	p.G10482E(1)		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)			ATAATCTTTTCCTTCAAGTAG	0.363																																																	1	Substitution - Missense(1)	skin(1)	2						C	GLU/GLY,GLU/GLY,GLU/GLY,GLU/GLY	1,3691		0,1,1845	88.0	83.0	85.0		31445,50936,31820,32021	6.0	1.0	2		85	0,8182		0,0,4091	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	98,98,98,98	0,1,5936	TT,TC,CC		0.0,0.0271,0.0084	probably-damaging,probably-damaging,probably-damaging,probably-damaging	10482/26927,16979/33424,10607/27052,10674/27119	179458387	1,11873	1846	4091	5937	179166633	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.53717G>A	2.37:g.179458387C>T	ENSP00000465570:p.Gly17906Glu		179166633	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		.	.	.	.	.	.	.	.	.	.	C	14.09	2.432583	0.43224	2.71E-4	0.0	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62232	0.04;0.04;0.04;0.04	6.02	6.02	0.97574	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82898	0.5137	M	0.85299	2.745	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	0.84089	0.0389	9	0.87932	D	0	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	10482;10607;10674;17906	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	16979;10482;10674;10607;10480	ENSP00000343764:G16979E;ENSP00000434586:G10482E;ENSP00000340554:G10674E;ENSP00000352154:G10607E	ENSP00000340554:G10674E	G	-	2	0	TTN	179166633	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.760000	0.85248	2.857000	0.98124	0.650000	0.86243	GGA		0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
STAT1	6772	hgsc.bcm.edu	37	2	191862953	191862953	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr2:191862953T>C	ENST00000361099.3	-	8	1010	c.623A>G	c.(622-624)aAt>aGt	p.N208S	STAT1_ENST00000409465.1_Missense_Mutation_p.N208S|STAT1_ENST00000392322.3_Missense_Mutation_p.N208S|STAT1_ENST00000540176.1_Intron|STAT1_ENST00000392323.2_Missense_Mutation_p.N210S	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	208					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			CTTTCTCTTATTGTCAAGCAT	0.348																																																	0			2											142.0	136.0	138.0					2																	191862953		2202	4297	6499	191571198	SO:0001583	missense	6772				CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.623A>G	2.37:g.191862953T>C	ENSP00000354394:p.Asn208Ser		191571198	A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	ENST00000361099.3	37	CCDS2309.1	.	.	.	.	.	.	.	.	.	.	T	3.207	-0.162535	0.06502	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323;ENST00000544783	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	4.89	-4.47	0.03525	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.954811	0.08908	N	0.876282	T	0.39963	0.1098	L	0.43152	1.355	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.38415	-0.9662	10	0.12430	T	0.62	-8.1681	13.7575	0.62946	0.0:0.567:0.0:0.433	.	208;208	P42224-2;P42224	.;STAT1_HUMAN	S	208;208;208;210;116	ENSP00000354394:N208S;ENSP00000386244:N208S;ENSP00000376136:N208S;ENSP00000376137:N210S	ENSP00000354394:N208S	N	-	2	0	STAT1	191571198	0.000000	0.05858	0.521000	0.27850	0.758000	0.43043	-0.709000	0.05030	-1.145000	0.02858	-0.256000	0.11100	AAT		0.348	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315	
CARF	79800	hgsc.bcm.edu	37	2	203817322	203817322	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr2:203817322G>A	ENST00000402905.3	+	5	668	c.347G>A	c.(346-348)cGt>cAt	p.R116H	CARF_ENST00000320443.8_Missense_Mutation_p.R116H|CARF_ENST00000456821.2_Missense_Mutation_p.R104H|CARF_ENST00000428585.1_Missense_Mutation_p.R40H|CARF_ENST00000434998.1_Missense_Mutation_p.R14H|CARF_ENST00000438828.2_Missense_Mutation_p.R116H|CARF_ENST00000471271.1_3'UTR|CARF_ENST00000545253.1_Missense_Mutation_p.R28H|WDR12_ENST00000477723.1_Intron|CARF_ENST00000444724.1_Missense_Mutation_p.R116H|CARF_ENST00000545262.1_Missense_Mutation_p.R40H|CARF_ENST00000414439.1_Missense_Mutation_p.R14H	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	116					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CAGGTACTTCGTGTAATTCCA	0.408																																																	0			2											143.0	128.0	133.0					2																	203817322		1863	4113	5976	203525567	SO:0001583	missense	79800			AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"""calcium-response factor"""	607586	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"""	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.347G>A	2.37:g.203817322G>A	ENSP00000384006:p.Arg116His		203525567	B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Missense_Mutation	SNP	ENST00000402905.3	37	CCDS42801.1	.	.	.	.	.	.	.	.	.	.	G	8.211	0.800380	0.16397	.	.	ENSG00000138380	ENST00000402905;ENST00000431787;ENST00000444724;ENST00000414857;ENST00000414439;ENST00000428585;ENST00000545253;ENST00000545262;ENST00000447539;ENST00000456821;ENST00000434998;ENST00000320443;ENST00000438828	.	.	.	5.46	1.38	0.22167	.	0.366056	0.23222	N	0.050544	T	0.25901	0.0631	L	0.33137	0.985	0.25159	N	0.990366	B;B;B;B;B	0.11235	0.001;0.001;0.004;0.001;0.004	B;B;B;B;B	0.08055	0.001;0.001;0.003;0.001;0.002	T	0.25433	-1.0132	9	0.11485	T	0.65	-0.1921	8.6682	0.34134	0.8098:0.0:0.1901:0.0	.	28;40;116;116;116	B4DIA7;G3V1K7;B4DRP6;Q8N187;F6SXV3	.;.;.;AL2S8_HUMAN;.	H	116;86;116;116;14;40;28;40;40;104;14;116;116	.	ENSP00000316224:R116H	R	+	2	0	ALS2CR8	203525567	1.000000	0.71417	0.955000	0.39395	0.976000	0.68499	1.128000	0.31369	0.016000	0.14998	0.467000	0.42956	CGT		0.408	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335768.5	NM_001104586	
TNS1	7145	hgsc.bcm.edu	37	2	218678420	218678420	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr2:218678420G>A	ENST00000171887.4	-	26	4989	c.4537C>T	c.(4537-4539)Cag>Tag	p.Q1513*	TNS1_ENST00000419504.1_Nonsense_Mutation_p.Q1500*|TNS1_ENST00000430930.1_Nonsense_Mutation_p.Q1492*	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1513	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TTTTTATTCTGCTGCATGATG	0.592																																																	0			2											136.0	136.0	136.0					2																	218678420		2203	4300	6503	218386665	SO:0001587	stop_gained	7145			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.4537C>T	2.37:g.218678420G>A	ENSP00000171887:p.Gln1513*		218386665	Q4ZG71|Q6IPI5	Nonsense_Mutation	SNP	ENST00000171887.4	37	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	G	48	13.929793	0.99770	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	.	.	.	5.15	4.27	0.50696	.	0.070369	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	13.834	0.63398	0.0732:0.0:0.9268:0.0	.	.	.	.	X	1513;651;1500;1492	.	ENSP00000171887:Q1513X	Q	-	1	0	TNS1	218386665	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.757000	0.85209	1.410000	0.46936	0.561000	0.74099	CAG		0.592	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648	
MRPL44	65080	hgsc.bcm.edu	37	2	224828575	224828575	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr2:224828575T>C	ENST00000258383.3	+	3	820	c.751T>C	c.(751-753)Tca>Cca	p.S251P	AC073641.2_ENST00000425192.1_RNA	NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	251	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.				mitochondrial translational elongation (GO:0070125)|RNA processing (GO:0006396)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		AAGGAATGTTTCAGCTCCTGA	0.378																																																	0			2											105.0	104.0	104.0					2																	224828575		2203	4300	6503	224536819	SO:0001583	missense	65080			AK022763	CCDS2459.1	2p24.3-p24.1	2012-09-13			ENSG00000135900	ENSG00000135900		"""Mitochondrial ribosomal proteins / large subunits"""	16650	protein-coding gene	gene with protein product	"""39S ribosomal protein L44, mitochondrial"""	611849					Standard	NM_022915		Approved	FLJ12701, FLJ13990	uc002vnr.4	Q9H9J2	OTTHUMG00000133164	ENST00000258383.3:c.751T>C	2.37:g.224828575T>C	ENSP00000258383:p.Ser251Pro		224536819	Q53S16|Q6IA62|Q9H821	Missense_Mutation	SNP	ENST00000258383.3	37	CCDS2459.1	.	.	.	.	.	.	.	.	.	.	T	2.841	-0.240394	0.05944	.	.	ENSG00000135900	ENST00000258383	T	0.78126	-1.15	5.7	0.417	0.16421	Double-stranded RNA-binding (1);Double-stranded RNA-binding-like (1);	0.415449	0.27393	N	0.019574	T	0.53351	0.1791	N	0.05414	-0.055	0.20926	N	0.999829	B	0.09022	0.002	B	0.06405	0.002	T	0.38628	-0.9652	10	0.27082	T	0.32	-6.2797	8.8421	0.35148	0.0:0.4993:0.0:0.5007	.	251	Q9H9J2	RM44_HUMAN	P	251	ENSP00000258383:S251P	ENSP00000258383:S251P	S	+	1	0	MRPL44	224536819	0.002000	0.14202	0.003000	0.11579	0.105000	0.19272	-0.043000	0.12043	0.045000	0.15804	0.482000	0.46254	TCA		0.378	MRPL44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256866.2	NM_022915	
NYAP2	57624	hgsc.bcm.edu	37	2	226447285	226447285	+	Silent	SNP	G	G	A			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr2:226447285G>A	ENST00000272907.6	+	4	1565	c.1152G>A	c.(1150-1152)ccG>ccA	p.P384P	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	384	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												CCACGCTGCCGTCCCACGTCC	0.677																																																	0			2											15.0	19.0	18.0					2																	226447285		1983	4138	6121	226155529	SO:0001819	synonymous_variant	57624			AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.1152G>A	2.37:g.226447285G>A			226155529	A2RRN4|Q96NL2	Silent	SNP	ENST00000272907.6	37	CCDS46529.1																																																																																				0.677	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864	
COL4A4	1286	hgsc.bcm.edu	37	2	227872075	227872075	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr2:227872075A>G	ENST00000396625.3	-	48	5246	c.5039T>C	c.(5038-5040)aTc>aCc	p.I1680T	COL4A4_ENST00000329662.7_Missense_Mutation_p.I1677T	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1680	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GCACCGGCTGATTTTCTGGCG	0.502																																																	0			2											350.0	350.0	350.0					2																	227872075		1963	4163	6126	227580319	SO:0001583	missense	1286				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.5039T>C	2.37:g.227872075A>G	ENSP00000379866:p.Ile1680Thr		227580319	A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	A	12.84	2.058860	0.36277	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.95980	-3.87;-3.87	5.89	0.634	0.17718	C-type lectin fold (1);	.	.	.	.	D	0.93739	0.7999	M	0.78049	2.395	0.37026	D	0.896432	B	0.06786	0.001	B	0.14023	0.01	D	0.89443	0.3725	9	0.38643	T	0.18	.	10.7718	0.46327	0.6894:0.0:0.3106:0.0	.	1680	P53420	CO4A4_HUMAN	T	1680;1677	ENSP00000379866:I1680T;ENSP00000328553:I1677T	ENSP00000328553:I1677T	I	-	2	0	COL4A4	227580319	0.982000	0.34865	0.996000	0.52242	0.942000	0.58702	2.166000	0.42406	0.117000	0.18138	-1.151000	0.01829	ATC		0.502	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092	
JAK2	3717	hgsc.bcm.edu	37	9	5072518	5072518	+	Silent	SNP	T	T	C			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr9:5072518T>C	ENST00000381652.3	+	13	2162	c.1668T>C	c.(1666-1668)ttT>ttC	p.F556F	JAK2_ENST00000544510.1_Silent_p.F407F|JAK2_ENST00000539801.1_Silent_p.F556F	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	556	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)	p.F556F(1)	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)	AAGGCACTTTTACAAAGATTT	0.358		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																															Dom	yes		9	9p24	3717	Janus kinase 2		L	1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	9											53.0	55.0	54.0					9																	5072518		2203	4300	6503	5062518	SO:0001819	synonymous_variant	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.1668T>C	9.37:g.5072518T>C			5062518	O14636|O75297	Silent	SNP	ENST00000381652.3	37	CCDS6457.1																																																																																				0.358	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1		
COL5A1	1289	hgsc.bcm.edu	37	9	137707473	137707473	+	Missense_Mutation	SNP	G	G	A	rs147868179	byFrequency	TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr9:137707473G>A	ENST00000371817.3	+	51	4480	c.4066G>A	c.(4066-4068)Gcg>Acg	p.A1356T		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1356	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GCCTGGCCCCGCGGTAGGTGC	0.607													G|||	5	0.000998403	0.003	0.0014	5008	,	,		15983	0.0		0.0	False		,,,				2504	0.0																0			9						G	THR/ALA	9,4397	15.5+/-35.6	0,9,2194	44.0	46.0	46.0		4066	5.2	0.9	9	dbSNP_134	46	0,8600		0,0,4300	yes	missense	COL5A1	NM_000093.3	58	0,9,6494	AA,AG,GG		0.0,0.2043,0.0692	probably-damaging	1356/1839	137707473	9,12997	2203	4300	6503	136847294	SO:0001583	missense	1289			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.4066G>A	9.37:g.137707473G>A	ENSP00000360882:p.Ala1356Thr		136847294	Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	CCDS6982.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	15.13	2.741522	0.49151	0.002043	0.0	ENSG00000130635	ENST00000371817	D	0.93659	-3.26	5.2	5.2	0.72013	.	0.068615	0.64402	U	0.000020	D	0.84822	0.5557	N	0.16166	0.38	0.48040	D	0.999577	D	0.54772	0.968	B	0.34873	0.191	D	0.84904	0.0844	10	0.19147	T	0.46	.	18.7294	0.91730	0.0:0.0:1.0:0.0	.	1356	P20908	CO5A1_HUMAN	T	1356	ENSP00000360882:A1356T	ENSP00000360882:A1356T	A	+	1	0	COL5A1	136847294	1.000000	0.71417	0.940000	0.37924	0.732000	0.41865	4.329000	0.59260	2.404000	0.81709	0.551000	0.68910	GCG		0.607	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093	
SPATA13	221178	hgsc.bcm.edu	37	13	24871586	24871586	+	Missense_Mutation	SNP	G	G	A	rs371749849	byFrequency	TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr13:24871586G>A	ENST00000382095.4	+	10	1828	c.1421G>A	c.(1420-1422)cGg>cAg	p.R474Q	SPATA13_ENST00000382108.3_Missense_Mutation_p.R1099Q|RP11-307N16.6_ENST00000382141.4_Missense_Mutation_p.R977Q|SPATA13_ENST00000409126.1_Missense_Mutation_p.R334Q|SPATA13_ENST00000399949.2_Missense_Mutation_p.R396Q|SPATA13_ENST00000424834.2_Missense_Mutation_p.R1099Q|SPATA13_ENST00000343003.6_Missense_Mutation_p.R418Q	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	474	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		AGCCAGCAGCGGACGTTCTTC	0.517													G|||	2	0.000399361	0.0	0.0	5008	,	,		20924	0.0		0.002	False		,,,				2504	0.0																0			13						G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	80.0	78.0	79.0		3296,1421	5.1	0.9	13		79	0,8600		0,0,4300	no	missense,missense	SPATA13	NM_001166271.1,NM_153023.2	43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	1099/1278,474/653	24871586	1,13005	2203	4300	6503	23769586	SO:0001583	missense	221178			AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.1421G>A	13.37:g.24871586G>A	ENSP00000371527:p.Arg474Gln		23769586	A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Missense_Mutation	SNP	ENST00000382095.4	37	CCDS9305.1	.	.	.	.	.	.	.	.	.	.	G	34	5.348915	0.95807	2.27E-4	0.0	ENSG00000182957	ENST00000382108;ENST00000382095;ENST00000434675;ENST00000438694;ENST00000399949;ENST00000409126;ENST00000343003	D;D;D;D;D;D	0.92299	-3.01;-3.01;-3.01;-3.01;-3.01;-3.01	5.12	5.12	0.69794	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.97148	0.9068	M	0.94101	3.495	0.58432	D	0.999996	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.997;0.999;0.997;0.997;0.999	D	0.98134	1.0432	10	0.72032	D	0.01	.	17.5456	0.87860	0.0:0.0:1.0:0.0	.	334;418;358;420;396;474	E9PFR9;Q96N96-3;Q96N96-5;Q96N96-4;Q96N96-2;Q96N96	.;.;.;.;.;SPT13_HUMAN	Q	1099;474;372;420;396;334;418	ENSP00000371542:R1099Q;ENSP00000371527:R474Q;ENSP00000401605:R372Q;ENSP00000382830:R396Q;ENSP00000386471:R334Q;ENSP00000343631:R418Q	ENSP00000343631:R418Q	R	+	2	0	SPATA13	23769586	1.000000	0.71417	0.941000	0.38009	0.947000	0.59692	9.381000	0.97205	2.403000	0.81681	0.561000	0.74099	CGG		0.517	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044180.2	NM_153023	
N4BP2L1	90634	hgsc.bcm.edu	37	13	32981406	32981406	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr13:32981406A>G	ENST00000380133.2	-	3	427	c.377T>C	c.(376-378)aTg>aCg	p.M126T	N4BP2L1_ENST00000530622.2_Missense_Mutation_p.M20T|N4BP2L1_ENST00000380139.4_Missense_Mutation_p.M126T|N4BP2L1_ENST00000380130.2_Missense_Mutation_p.M126T|N4BP2L1_ENST00000459716.1_5'UTR			Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1	126										large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		ATAGGGCTTCATTTCCCAGGC	0.383																																																	0			13											179.0	160.0	166.0					13																	32981406		2203	4300	6503	31879406	SO:0001583	missense	90634			U50527	CCDS9345.2, CCDS41877.1	13q13.1	2008-11-05			ENSG00000139597	ENSG00000139597			25037	protein-coding gene	gene with protein product	"""hypothetical gene CG018"""					8812419	Standard	NM_052818		Approved	CG018	uc001uuc.3	Q5TBK1	OTTHUMG00000016697	ENST00000380133.2:c.377T>C	13.37:g.32981406A>G	ENSP00000369476:p.Met126Thr		31879406	A4QN21|Q5TBK0	Missense_Mutation	SNP	ENST00000380133.2	37	CCDS9345.2	.	.	.	.	.	.	.	.	.	.	A	17.31	3.358312	0.61403	.	.	ENSG00000139597	ENST00000380130;ENST00000380139;ENST00000530622;ENST00000380133	T;T;T	0.42131	0.98;0.98;0.98	5.35	5.35	0.76521	Zeta toxin domain (1);	0.000000	0.85682	D	0.000000	T	0.60521	0.2275	L	0.53729	1.69	0.49582	D	0.999806	D;D	0.89917	1.0;0.994	D;D	0.83275	0.996;0.985	T	0.63883	-0.6536	10	0.87932	D	0	.	15.3353	0.74247	1.0:0.0:0.0:0.0	.	126;126	Q5TBK1-2;Q5TBK1	.;N42L1_HUMAN	T	126;126;20;126	ENSP00000369473:M126T;ENSP00000369484:M126T;ENSP00000369476:M126T	ENSP00000369473:M126T	M	-	2	0	N4BP2L1	31879406	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.461000	0.80834	2.041000	0.60428	0.533000	0.62120	ATG		0.383	N4BP2L1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044412.2	NM_052818	
ITGA8	8516	hgsc.bcm.edu	37	10	15688877	15688877	+	Missense_Mutation	SNP	T	T	C	rs139249793		TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr10:15688877T>C	ENST00000378076.3	-	12	1528	c.1175A>G	c.(1174-1176)cAc>cGc	p.H392R		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	392					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GTCTCCTAAGTGTGCCATAGC	0.473													T|||	1	0.000199681	0.0008	0.0	5008	,	,		18125	0.0		0.0	False		,,,				2504	0.0																0			10						T	ARG/HIS	9,4397	15.5+/-35.6	0,9,2194	113.0	102.0	106.0		1175	3.9	0.4	10	dbSNP_134	106	0,8600		0,0,4300	yes	missense	ITGA8	NM_003638.1	29	0,9,6494	CC,CT,TT		0.0,0.2043,0.0692	possibly-damaging	392/1064	15688877	9,12997	2203	4300	6503	15728883	SO:0001583	missense	8516			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1175A>G	10.37:g.15688877T>C	ENSP00000367316:p.His392Arg		15728883	B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	T	18.63	3.664793	0.67700	0.002043	0.0	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.10960	2.82	5.09	3.93	0.45458	.	0.097154	0.64402	D	0.000001	T	0.14313	0.0346	N	0.20766	0.605	0.44500	D	0.997444	D;D	0.59357	0.981;0.985	P;P	0.58266	0.747;0.836	T	0.04708	-1.0932	10	0.33940	T	0.23	.	11.9624	0.53015	0.0:0.0:0.1455:0.8545	.	377;392	F5H818;P53708	.;ITA8_HUMAN	R	392;377	ENSP00000367316:H392R	ENSP00000367316:H392R	H	-	2	0	ITGA8	15728883	1.000000	0.71417	0.449000	0.26957	0.701000	0.40568	6.447000	0.73465	0.747000	0.32809	0.460000	0.39030	CAC		0.473	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638	
PTPLA	9200	hgsc.bcm.edu	37	10	17636292	17636292	+	Silent	SNP	T	T	C			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr10:17636292T>C	ENST00000361271.3	-	6	733	c.696A>G	c.(694-696)ggA>ggG	p.G232G		NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A	232					fatty acid biosynthetic process (GO:0006633)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						TTGAAAACATTCCTGTTTTCT	0.323																																																	0			10											71.0	72.0	72.0					10																	17636292		2203	4295	6498	17676298	SO:0001819	synonymous_variant	9200			AF114494	CCDS7121.1	10p14-p13	2008-08-01	2005-11-11		ENSG00000165996	ENSG00000165996			9639	protein-coding gene	gene with protein product	"""cementum attachment protein"""	610467	"""protein tyrosine phosphatase-like (proline instead of catalytic arginine), member a"""			10644438	Standard	XM_005252641		Approved	CAP	uc001ipg.3	B0YJ81	OTTHUMG00000017750	ENST00000361271.3:c.696A>G	10.37:g.17636292T>C			17676298	B0YJ80|Q6JIC5|Q96FW7|Q9HB93|Q9UHX2	Silent	SNP	ENST00000361271.3	37	CCDS7121.1																																																																																				0.323	PTPLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047046.1	NM_014241	
DNAJC1	64215	hgsc.bcm.edu	37	10	22055214	22055214	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr10:22055214T>C	ENST00000376980.3	-	10	1413	c.1123A>G	c.(1123-1125)Aag>Gag	p.K375E	DNAJC1_ENST00000483085.1_5'UTR	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	375	SANT 1. {ECO:0000255|PROSITE- ProRule:PRU00624}.				negative regulation of proteolysis (GO:0045861)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)|regulation of protein secretion (GO:0050708)|regulation of translation (GO:0006417)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				ACTGAATCCTTCAGTTGCTTG	0.358																																																	0			10											144.0	148.0	147.0					10																	22055214		2203	4300	6503	22095220	SO:0001583	missense	64215			AK026062	CCDS7136.1	10p11.23	2011-09-02			ENSG00000136770	ENSG00000136770		"""Heat shock proteins / DNAJ (HSP40)"""	20090	protein-coding gene	gene with protein product		611207					Standard	NM_022365		Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	Q96KC8	OTTHUMG00000017800	ENST00000376980.3:c.1123A>G	10.37:g.22055214T>C	ENSP00000366179:p.Lys375Glu		22095220	B0YIZ8|Q5VX89|Q9H6B8	Missense_Mutation	SNP	ENST00000376980.3	37	CCDS7136.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.822405	0.90873	.	.	ENSG00000136770	ENST00000376980	T	0.22743	1.94	5.24	5.24	0.73138	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.050282	0.85682	D	0.000000	T	0.34542	0.0901	L	0.33624	1.015	0.80722	D	1	D;D	0.76494	0.999;0.991	D;P	0.65987	0.94;0.734	T	0.11446	-1.0587	10	0.87932	D	0	-9.6528	15.1573	0.72752	0.0:0.0:0.0:1.0	.	96;375	Q96NY3;Q96KC8	.;DNJC1_HUMAN	E	375	ENSP00000366179:K375E	ENSP00000366179:K375E	K	-	1	0	DNAJC1	22095220	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.486000	0.73629	1.982000	0.57802	0.482000	0.46254	AAG		0.358	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047149.1	NM_022365	
PTEN	5728	hgsc.bcm.edu	37	10	89624235	89624235	+	Silent	SNP	C	C	T			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr10:89624235C>T	ENST00000371953.3	+	1	1366	c.9C>T	c.(7-9)gcC>gcT	p.A3A	KLLN_ENST00000445946.3_5'Flank	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	3					activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|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 proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(13)|p.A3fs*21(2)|p.I4fs*6(1)|p.M1fs*24(1)|p.A3fs*14(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACATGACAGCCATCATCAAAG	0.498		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	55	Whole gene deletion(37)|Unknown(13)|Complex - frameshift(3)|Deletion - Frameshift(2)	prostate(14)|central_nervous_system(9)|skin(7)|lung(6)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|ovary(3)|bone(2)|breast(2)|biliary_tract(1)|stomach(1)|soft_tissue(1)|urinary_tract(1)|kidney(1)	10											150.0	149.0	149.0					10																	89624235		2203	4300	6503	89614215	SO:0001819	synonymous_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.9C>T	10.37:g.89624235C>T			89614215	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Silent	SNP	ENST00000371953.3	37	CCDS31238.1																																																																																				0.498	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
ABLIM1	3983	hgsc.bcm.edu	37	10	116225564	116225564	+	Missense_Mutation	SNP	C	C	T	rs375611769		TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr10:116225564C>T	ENST00000277895.5	-	12	1431	c.1334G>A	c.(1333-1335)cGg>cAg	p.R445Q	ABLIM1_ENST00000369253.2_Missense_Mutation_p.R103Q|ABLIM1_ENST00000392952.3_Missense_Mutation_p.R157Q|ABLIM1_ENST00000369266.3_Missense_Mutation_p.R157Q|ABLIM1_ENST00000533213.2_Missense_Mutation_p.R385Q|ABLIM1_ENST00000369252.4_Missense_Mutation_p.R385Q	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	445					axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		ATGGATCATCCGATCCCGAAC	0.557																																																	0			10						C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	209.0	187.0	195.0		1154,1238,1334,470	4.5	1.0	10		195	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	ABLIM1	NM_001003407.1,NM_001003408.1,NM_002313.5,NM_006720.3	43,43,43,43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	385/719,413/747,445/779,157/456	116225564	2,13004	2203	4300	6503	116215554	SO:0001583	missense	3983			AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.1334G>A	10.37:g.116225564C>T	ENSP00000277895:p.Arg445Gln		116215554	A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	ENST00000277895.5	37	CCDS7590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.386552|5.386552	0.95967|0.95967	2.27E-4|2.27E-4	1.16E-4|1.16E-4	ENSG00000099204|ENSG00000099204	ENST00000392955|ENST00000336585;ENST00000369252;ENST00000392952;ENST00000369257;ENST00000369267;ENST00000533213;ENST00000369262;ENST00000369263;ENST00000369266;ENST00000369256;ENST00000369260;ENST00000277895;ENST00000369253;ENST00000440467;ENST00000428430	.|T;T;T;T;T;T	.|0.72725	.|-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	5.41|5.41	4.51|4.51	0.55191|0.55191	.|.	.|0.246709	.|0.41500	.|D	.|0.000864	T|T	0.78349|0.78349	0.4269|0.4269	L|L	0.50919|0.50919	1.6|1.6	0.45567|0.45567	D|D	0.998515|0.998515	.|D;D;D;D;D;D;D;D;P	.|0.76494	.|0.995;0.988;0.999;0.989;0.961;0.999;0.998;0.981;0.937	.|P;B;D;P;B;D;D;P;P	.|0.85130	.|0.749;0.431;0.997;0.691;0.417;0.946;0.98;0.498;0.689	T|T	0.75659|0.75659	-0.3241|-0.3241	5|10	.|0.29301	.|T	.|0.29	.|.	12.7367|12.7367	0.57228|0.57228	0.0:0.9236:0.0:0.0764|0.0:0.9236:0.0:0.0764	.|.	.|369;129;385;413;445;157;413;369;103	.|B7Z4H1;B4DQA3;F8W8M4;A6NKJ2;O14639;O14639-5;B3KVH2;C9K0X4;O14639-4	.|.;.;.;.;ABLM1_HUMAN;.;.;.;.	R|Q	354|445;385;157;103;413;385;473;369;157;369;369;473;157;110;129	.|ENSP00000358256:R385Q;ENSP00000376679:R157Q;ENSP00000433629:R385Q;ENSP00000358270:R157Q;ENSP00000414154:R110Q;ENSP00000400934:R129Q	.|ENSP00000277895:R473Q	G|R	-|-	1|2	0|0	ABLIM1|ABLIM1	116215554|116215554	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.719000|7.719000	0.84751|0.84751	1.432000|1.432000	0.47375|0.47375	0.650000|0.650000	0.86243|0.86243	GGA|CGG		0.557	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3		
FOXI2	399823	hgsc.bcm.edu	37	10	129537055	129537055	+	Silent	SNP	C	C	T			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr10:129537055C>T	ENST00000388920.4	+	2	822	c.783C>T	c.(781-783)acC>acT	p.T261T		NM_207426.2	NP_997309.2	Q6ZQN5	FOXI2_HUMAN	forkhead box I2	261					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(3)	4		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)				GCCTTGGCACCTTCCCCGGGG	0.697																																					Esophageal Squamous(54;1038 1280 2528 31583)												0			10											8.0	9.0	9.0					10																	129537055		2181	4264	6445	129427045	SO:0001819	synonymous_variant	399823			AK128865	CCDS7655.2	10q26.2	2008-04-10			ENSG00000186766	ENSG00000186766		"""Forkhead boxes"""	32448	protein-coding gene	gene with protein product							Standard	NM_207426		Approved	FLJ46831	uc009yas.2	Q6ZQN5	OTTHUMG00000019250	ENST00000388920.4:c.783C>T	10.37:g.129537055C>T			129427045		Silent	SNP	ENST00000388920.4	37	CCDS7655.2																																																																																				0.697	FOXI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050984.2	NM_207426	
ADAMTS16	170690	hgsc.bcm.edu	37	5	5182370	5182370	+	Missense_Mutation	SNP	C	C	T	rs202209661		TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr5:5182370C>T	ENST00000274181.7	+	4	853	c.715C>T	c.(715-717)Cgc>Tgc	p.R239C	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.R239C	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	239					branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CAGCGACCTTCGCCTGGGACT	0.517																																																	0			5						C	CYS/ARG	0,4186		0,0,2093	67.0	72.0	70.0		715	-0.9	0.0	5		70	2,8474		0,2,4236	yes	missense	ADAMTS16	NM_139056.2	180	0,2,6329	TT,TC,CC		0.0236,0.0,0.0158	possibly-damaging	239/1225	5182370	2,12660	2093	4238	6331	5235370	SO:0001583	missense	170690			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.715C>T	5.37:g.5182370C>T	ENSP00000274181:p.Arg239Cys		5235370	C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.606407	0.46527	0.0	2.36E-4	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.63255	0.06;-0.03	5.26	-0.905	0.10527	.	0.697943	0.13970	N	0.350256	T	0.48003	0.1476	N	0.14661	0.345	0.09310	N	1	P;P;P	0.47302	0.893;0.741;0.738	B;P;B	0.47162	0.27;0.54;0.276	T	0.47484	-0.9114	10	0.49607	T	0.09	.	11.0966	0.48147	0.3715:0.5514:0.0771:0.0	.	239;239;239	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	C	239	ENSP00000274181:R239C;ENSP00000421631:R239C	ENSP00000274181:R239C	R	+	1	0	ADAMTS16	5235370	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.768000	0.04715	-0.418000	0.07450	0.650000	0.86243	CGC		0.517	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056	
APC	324	hgsc.bcm.edu	37	5	112175242	112175242	+	Silent	SNP	A	A	G			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr5:112175242A>G	ENST00000457016.1	+	16	4331	c.3951A>G	c.(3949-3951)gaA>gaG	p.E1317E	APC_ENST00000257430.4_Silent_p.E1317E|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Silent_p.E1317E			P25054	APC_HUMAN	adenomatous polyposis coli	1317	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.		E -> Q (may contribute to colorectal tumor development; dbSNP:rs1801166). {ECO:0000269|PubMed:9724771}.		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.D1318fs*3(1)|p.K1192fs*3(1)|p.?(1)|p.A1316fs*9(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)		GGTCAGCTGAAGATCCTGTGA	0.438		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"""	4	Deletion - Frameshift(3)|Unknown(1)	large_intestine(2)|soft_tissue(1)|skin(1)	5											60.0	62.0	61.0					5																	112175242		2202	4300	6502	112203141	SO:0001819	synonymous_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.3951A>G	5.37:g.112175242A>G			112203141	D3DT03|Q15162|Q15163|Q93042	Silent	SNP	ENST00000457016.1	37	CCDS4107.1																																																																																				0.438	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112175324	112175324	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr5:112175324G>T	ENST00000457016.1	+	16	4413	c.4033G>T	c.(4033-4035)Gaa>Taa	p.E1345*	APC_ENST00000257430.4_Nonsense_Mutation_p.E1345*|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Nonsense_Mutation_p.E1345*			P25054	APC_HUMAN	adenomatous polyposis coli	1345	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.E1345*(3)|p.S1335fs*70(1)|p.K1192fs*3(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)		TTTATCTTCAGAATCAGCCAG	0.478		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"""	6	Substitution - Nonsense(3)|Deletion - Frameshift(2)|Unknown(1)	large_intestine(4)|soft_tissue(1)|skin(1)	5	GRCh37	CM994565	APC	M							58.0	62.0	60.0					5																	112175324		2202	4300	6502	112203223	SO:0001587	stop_gained	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.4033G>T	5.37:g.112175324G>T	ENSP00000413133:p.Glu1345*		112203223	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	40	8.442588	0.98813	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	.	.	.	6.03	6.03	0.97812	.	0.216974	0.45867	D	0.000337	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-25.7885	20.1672	0.98154	0.0:0.0:1.0:0.0	.	.	.	.	X	1345	.	.	E	+	1	0	APC	112203223	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	4.374000	0.59543	2.861000	0.98227	0.655000	0.94253	GAA		0.478	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
NRG2	9542	hgsc.bcm.edu	37	5	139245141	139245141	+	Silent	SNP	A	A	G			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr5:139245141A>G	ENST00000361474.1	-	5	1406	c.1182T>C	c.(1180-1182)ccT>ccC	p.P394P	NRG2_ENST00000289422.7_Silent_p.P394P|NRG2_ENST00000340391.3_Silent_p.P191P|NRG2_ENST00000358522.3_Intron|NRG2_ENST00000289409.4_Intron|NRG2_ENST00000545385.1_Intron|NRG2_ENST00000541337.1_Intron|NRG2_ENST00000394770.1_Silent_p.P394P	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	394					embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACTTTGCTTAGGATCTGGCA	0.468																																																	0			5											102.0	98.0	99.0					5																	139245141		2203	4300	6503	139225325	SO:0001819	synonymous_variant	9542				CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"""Immunoglobulin superfamily / I-set domain containing"""	7998	protein-coding gene	gene with protein product	"""neural- and thymus-derived activator for ErbB kinases"", ""divergent of neuregulin-1"""	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.1182T>C	5.37:g.139245141A>G			139225325		Silent	SNP	ENST00000361474.1	37	CCDS4217.1																																																																																				0.468	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	NM_013982	
TRRAP	8295	hgsc.bcm.edu	37	7	98555602	98555602	+	Splice_Site	SNP	A	A	G			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr7:98555602A>G	ENST00000359863.4	+	43	6419		c.e43-1		TRRAP_ENST00000446306.3_Splice_Site|TRRAP_ENST00000355540.3_Splice_Site	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein						chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GTCCTTTTCCAGGTCTTTGGG	0.542																																																	0			7											70.0	56.0	61.0					7																	98555602		2203	4300	6503	98393538	SO:0001630	splice_region_variant	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.6211-1A>G	7.37:g.98555602A>G			98393538	A4D265|O75218|Q9Y631|Q9Y6H4	Splice_Site	SNP	ENST00000359863.4	37	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	A	15.62	2.887796	0.52014	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306;ENST00000456197	.	.	.	5.39	4.2	0.49525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3817	0.55311	0.8591:0.1409:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRRAP	98393538	1.000000	0.71417	0.783000	0.31826	0.515000	0.34225	9.228000	0.95250	0.845000	0.35118	0.533000	0.62120	.		0.542	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496	Intron
MUC4	4585	hgsc.bcm.edu	37	3	195512373	195512374	+	In_Frame_Ins	INS	-	-	GAT	rs112774151|rs63118461		TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr3:195512373_195512374insGAT	ENST00000463781.3	-	2	6536_6537	c.6077_6078insATC	c.(6076-6078)tcc>tcATCc	p.2026_2026S>SS	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_In_Frame_Ins_p.2026_2026S>SS	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)	p.S2026_T2027insS(3)		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)		TGTCACCAGTGGATGCTGAGGA	0.579																																																	3	Insertion - In frame(3)	large_intestine(2)|breast(1)	3							,,	1110,2296		177,756,770					,,		0.0		dbSNP_130	24	1888,5346		82,1724,1811	no	intron,coding,intron	MUC4	NM_138297.4,NM_018406.6,NM_004532.5	,,	259,2480,2581	A1A1,A1R,RR		26.099,32.5895,28.1767	,,	,,		2998,7642				196996769	SO:0001652	inframe_insertion	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.6075_6077dupATC	3.37:g.195512374_195512376dupGAT	ENSP00000417498:p.Ser2026dup		196996768	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Ins	INS	ENST00000463781.3	37	CCDS54700.1																																																																																				0.579	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	hgsc.bcm.edu	37	3	195513800	195513847	+	In_Frame_Del	DEL	TGGTGTCACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCA	TGGTGTCACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCA	-	rs200019432|rs200208054|rs199976859|rs201142885|rs202176252|rs202029925|rs200981553	byFrequency	TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	TGGTGTCACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCA	TGGTGTCACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr3:195513800_195513847delTGGTGTCACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCA	ENST00000463781.3	-	2	5063_5110	c.4604_4651delTGCCTCTTCCTGTCACTAGCCCTTCCTCAGCATCCACAGGTGACACCA	c.(4603-4653)atgcctcttcctgtcactagcccttcctcagcatccacaggtgacaccacc>acc	p.MPLPVTSPSSASTGDT1535del	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_In_Frame_Del_p.MPLPVTSPSSASTGDT1535del	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				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)	p.M1535_T1550delMPLPVTSPSSASTGDT(4)|p.M1535I(2)|p.D1549H(1)|p.P1542L(1)|p.T1547S(1)		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)		GGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCATGGTGTCACC	0.585																																																	9	Substitution - Missense(5)|Deletion - In frame(4)	stomach(4)|kidney(3)|skin(2)	3																																								196998242	SO:0001651	inframe_deletion	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.4604_4651delTGCCTCTTCCTGTCACTAGCCCTTCCTCAGCATCCACAGGTGACACCA	3.37:g.195513800_195513847delTGGTGTCACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCA	ENSP00000417498:p.Met1535_Thr1550del		196998195	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Del	DEL	ENST00000463781.3	37	CCDS54700.1																																																																																				0.585	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
PCDHGA4	56111	hgsc.bcm.edu	37	5	140737183	140737183	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr5:140737183delC	ENST00000571252.1	+	1	2416	c.2416delC	c.(2416-2418)cttfs	p.L806fs	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_5'Flank|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	806					homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACCCTAATCTTCAGGTGAG	0.373																																																	0			5											41.0	45.0	44.0					5																	140737183		2105	4228	6333	140717367	SO:0001589	frameshift_variant	56111			AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.2416delC	5.37:g.140737183delC	ENSP00000458570:p.Leu806fs		140717367	Q9Y5D3	Frame_Shift_Del	DEL	ENST00000571252.1	37	CCDS58979.1																																																																																				0.373	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917	
RNF145	153830	hgsc.bcm.edu	37	5	158630642	158630642	+	5'UTR	DEL	T	T	-	rs74770414|rs202186112		TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr5:158630642delT	ENST00000424310.2	-	0	343				RNF145_ENST00000519865.1_5'UTR|RNF145_ENST00000274542.2_Frame_Shift_Del_p.K26fs|RNF145_ENST00000521606.2_Frame_Shift_Del_p.K15fs|RNF145_ENST00000518802.1_Frame_Shift_Del_p.K28fs|RNF145_ENST00000520638.1_Frame_Shift_Del_p.K12fs	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145							integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			tttttttttcttttttttttt	0.363																																																	0			5											31.0	34.0	33.0					5																	158630642		2202	4300	6502	158563220	SO:0001623	5_prime_UTR_variant	153830			BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"""RING-type (C3HC4) zinc fingers"""	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.-17A>-	5.37:g.158630642delT			158563220	B7Z903|B7Z949|E7EVI7|Q8IVP7	Frame_Shift_Del	DEL	ENST00000424310.2	37	CCDS56390.1																																																																																				0.363	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726	
PIK3CG	5294	hgsc.bcm.edu	37	7	106523591	106523591	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr7:106523591delT	ENST00000359195.3	+	8	3053	c.2743delT	c.(2743-2745)tccfs	p.S915fs	PIK3CG_ENST00000496166.1_Frame_Shift_Del_p.S915fs|PIK3CG_ENST00000440650.2_Frame_Shift_Del_p.S915fs	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	915	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CAAAGAAAAATCCCCTACTGA	0.423																																																	0			7											111.0	108.0	109.0					7																	106523591		2203	4300	6503	106310827	SO:0001589	frameshift_variant	5294				CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.2743delT	7.37:g.106523591delT	ENSP00000352121:p.Ser915fs		106310827	A4D0Q6|Q8IV23|Q9BZC8	Frame_Shift_Del	DEL	ENST00000359195.3	37	CCDS5739.1																																																																																				0.423	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1		
AGAP3	116988	hgsc.bcm.edu	37	7	150831565	150831566	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr7:150831565_150831566insG	ENST00000463381.1	+	11	1217_1218	c.721_722insG	c.(721-723)cgafs	p.R241fs	AGAP3_ENST00000397238.2_Frame_Shift_Ins_p.R469fs	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	520	Small GTPase-like.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)	p.R469*(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GCGCCTGCCCCGAGCCACACCT	0.663																																																	1	Substitution - Nonsense(1)	large_intestine(1)	7																																								150462499	SO:0001589	frameshift_variant	116988			AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.722dupG	7.37:g.150831566_150831566dupG	ENSP00000418016:p.Arg241fs		150462498	B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Frame_Shift_Ins	INS	ENST00000463381.1	37																																																																																					0.663	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946	
RP1L1	94137	hgsc.bcm.edu	37	8	10467517	10467518	+	Frame_Shift_Del	DEL	CC	CC	-	rs116752225	byFrequency	TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	CC	CC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr8:10467517_10467518delCC	ENST00000382483.3	-	4	4313_4314	c.4090_4091delGG	c.(4090-4092)ggafs	p.G1364fs		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1407	8 X 16 AA approximate tandem repeats of T-E-E-G-L-Q-E-E-G-V-Q-L-E-E-T-K.		Missing (in allele RP1L1-1).|Missing (in allele RP1L1-2).|Missing (in allele RP1L1-3).		cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CAGCCcttctcctcctgtttct	0.495																																																	0			8																																								10504928	SO:0001589	frameshift_variant	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.4090_4091delGG	8.37:g.10467517_10467518delCC	ENSP00000371923:p.Gly1364fs		10504927	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Frame_Shift_Del	DEL	ENST00000382483.3	37	CCDS43708.1																																																																																				0.495	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1		
RP1L1	94137	hgsc.bcm.edu	37	8	10467520	10467520	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr8:10467520delC	ENST00000382483.3	-	4	4311	c.4088delG	c.(4087-4089)ggafs	p.G1364fs		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1407	8 X 16 AA approximate tandem repeats of T-E-E-G-L-Q-E-E-G-V-Q-L-E-E-T-K.		Missing (in allele RP1L1-1).|Missing (in allele RP1L1-2).|Missing (in allele RP1L1-3).		cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCcttctcctcctgtttcttc	0.502																																																	0			8											127.0	133.0	131.0					8																	10467520		1938	4127	6065	10504930	SO:0001589	frameshift_variant	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.4088delG	8.37:g.10467520delC	ENSP00000371923:p.Gly1364fs		10504930	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Frame_Shift_Del	DEL	ENST00000382483.3	37	CCDS43708.1																																																																																				0.502	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1		
RP1L1	94137	hgsc.bcm.edu	37	8	10467527	10467527	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr8:10467527delC	ENST00000382483.3	-	4	4304	c.4081delG	c.(4081-4083)gaafs	p.E1361fs		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1404	8 X 16 AA approximate tandem repeats of T-E-E-G-L-Q-E-E-G-V-Q-L-E-E-T-K.		Missing (in allele RP1L1-1).|Missing (in allele RP1L1-2).|Missing (in allele RP1L1-3).		cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		cctcctgtttcttcaatttcc	0.498																																																	0			8											117.0	121.0	120.0					8																	10467527		1944	4125	6069	10504937	SO:0001589	frameshift_variant	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.4081delG	8.37:g.10467527delC	ENSP00000371923:p.Glu1361fs		10504937	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Frame_Shift_Del	DEL	ENST00000382483.3	37	CCDS43708.1																																																																																				0.498	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1		
RP1L1	94137	hgsc.bcm.edu	37	8	10467529	10467530	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	TC	TC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr8:10467529_10467530delTC	ENST00000382483.3	-	4	4301_4302	c.4078_4079delGA	c.(4078-4080)gaafs	p.E1361fs		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1404	8 X 16 AA approximate tandem repeats of T-E-E-G-L-Q-E-E-G-V-Q-L-E-E-T-K.		Missing (in allele RP1L1-1).|Missing (in allele RP1L1-2).|Missing (in allele RP1L1-3).		cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		tcctgtttcttcaatttcctct	0.495																																																	0			8																																								10504940	SO:0001589	frameshift_variant	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.4078_4079delGA	8.37:g.10467529_10467530delTC	ENSP00000371923:p.Glu1361fs		10504939	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Frame_Shift_Del	DEL	ENST00000382483.3	37	CCDS43708.1																																																																																				0.495	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1		
RP1L1	94137	hgsc.bcm.edu	37	8	10467706	10467707	+	In_Frame_Ins	INS	-	-	CCC			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr8:10467706_10467707insCCC	ENST00000382483.3	-	4	4124_4125	c.3901_3902insGGG	c.(3901-3903)gtg>gGGGtg	p.1300_1301insG		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1300	8 X 16 AA approximate tandem repeats of T-E-E-G-L-Q-E-E-G-V-Q-L-E-E-T-K.				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTCTAATTGCACCTCTTCTTGC	0.495																																																	0			8																																								10505117	SO:0001652	inframe_insertion	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.3901_3902insGGG	8.37:g.10467706_10467707insCCC	ENSP00000371923:p.Glu1300_Val1301insGly		10505116	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	In_Frame_Ins	INS	ENST00000382483.3	37	CCDS43708.1																																																																																				0.495	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1		
GPRIN2	9721	hgsc.bcm.edu	37	10	46999591	46999592	+	In_Frame_Ins	INS	-	-	ATGAGGGAG	rs112620425	byFrequency	TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr10:46999591_46999592insATGAGGGAG	ENST00000374317.1	+	3	984_985	c.711_712insATGAGGGAG	c.(712-714)atg>ATGAGGGAGatg	p.238_238M>MREM	GPRIN2_ENST00000374314.4_In_Frame_Ins_p.238_238M>MREM	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	238								p.G237_M238insMRE(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						TACTCTGTGGCATGAGGGAGGT	0.629														2399	0.479034	0.4697	0.4856	5008	,	,		38874	0.4782		0.4761	False		,,,				2504	0.4908																1	Insertion - In frame(1)	breast(1)	10								2080,27,2157		11,3,2055,0,24,39						0.9	0.0		dbSNP_130	49	3974,98,4180		16,7,3935,0,91,77	no	codingComplex	GPRIN2	NM_014696.3		27,10,5990,0,115,116	A1A1,A1A2,A1R,A2A2,A2R,RR		49.3456,49.4137,49.3688				6054,125,6337				46419598	SO:0001652	inframe_insertion	9721			BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.712_720dupATGAGGGAG	10.37:g.46999592_46999600dupATGAGGGAG	Exception_encountered		46419597	Q5SVF0	In_Frame_Ins	INS	ENST00000374317.1	37	CCDS31192.1																																																																																				0.629	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696	
MUC2	4583	hgsc.bcm.edu	37	11	1092802	1092802	+	Frame_Shift_Del	DEL	A	A	-	rs528672869|rs534872608	byFrequency	TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr11:1092802delA	ENST00000441003.2	+	30	4648	c.4621delA	c.(4621-4623)accfs	p.T1545fs	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Frame_Shift_Del_p.T1546fs	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	
ESRRA	2101	hgsc.bcm.edu	37	11	64083296	64083298	+	In_Frame_Del	DEL	GGG	GGG	-			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	GGG	GGG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr11:64083296_64083298delGGG	ENST00000405666.1	+	7	1364_1366	c.1130_1132delGGG	c.(1129-1134)cgggcg>ccg	p.377_378RA>P	PRDX5_ENST00000347941.4_5'Flank|PRDX5_ENST00000352435.4_5'Flank|ESRRA_ENST00000000442.6_In_Frame_Del_p.377_378RA>P|ESRRA_ENST00000406310.1_In_Frame_Del_p.376_377RA>P|PRDX5_ENST00000265462.4_5'Flank	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	377	Ligand binding domain.				cartilage development (GO:0051216)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|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)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R377_A378>P(2)		endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						GAGCGGCGGCGGGCGGGCAGGCT	0.69																																																	2	Complex - deletion inframe(2)	lung(2)	11								51,3601		5,41,1780						2.3	1.0			19	264,7542		4,256,3643	no	coding	ESRRA	NM_004451.3		9,297,5423	A1A1,A1R,RR		3.382,1.3965,2.7492				315,11143				63839874	SO:0001651	inframe_deletion	2101			X51416, L38487	CCDS41667.1, CCDS60830.1	11q12	2013-01-16			ENSG00000173153	ENSG00000173153		"""Nuclear hormone receptors"""	3471	protein-coding gene	gene with protein product		601998		ESRL1		3267207	Standard	NM_004451		Approved	ERR1, ERRalpha, NR3B1, ERRa	uc001nzq.1	P11474	OTTHUMG00000150641	ENST00000405666.1:c.1130_1132delGGG	11.37:g.64083296_64083298delGGG	ENSP00000384851:p.Arg377_Ala378delinsPro		63839872	Q14514	In_Frame_Del	DEL	ENST00000405666.1	37	CCDS41667.1																																																																																				0.690	ESRRA-003	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319304.1	NM_004451	
SF1	7536	hgsc.bcm.edu	37	11	64534503	64534505	+	In_Frame_Del	DEL	GGC	GGC	-	rs71581802|rs71583705		TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	GGC	GGC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr11:64534503_64534505delGGC	ENST00000377390.3	-	12	1786_1788	c.1449_1451delGCC	c.(1447-1452)ccgcct>cct	p.483_484PP>P	SF1_ENST00000377394.3_In_Frame_Del_p.A485del|SF1_ENST00000227503.9_In_Frame_Del_p.483_484PP>P|SF1_ENST00000489544.1_5'Flank|SF1_ENST00000422298.2_In_Frame_Del_p.368_369PP>P|SF1_ENST00000334944.5_In_Frame_Del_p.483_484PP>P|SF1_ENST00000433274.2_In_Frame_Del_p.457_458PP>P|SF1_ENST00000377387.1_In_Frame_Del_p.608_609PP>P	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	483	Pro-rich.				Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						CCCACTGGGAGGCGGCGGCGGCG	0.68																																																	0			11																																								64291081	SO:0001651	inframe_deletion	7536			D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"""Zinc fingers, CCHC domain containing"""	12950	protein-coding gene	gene with protein product		601516	"""zinc finger protein 162"""	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.1449_1451delGCC	11.37:g.64534512_64534514delGGC	ENSP00000366607:p.Pro485del		64291079	B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	In_Frame_Del	DEL	ENST00000377390.3	37	CCDS31599.1																																																																																				0.680	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	NM_004630	
KRT4	3851	hgsc.bcm.edu	37	12	53207602	53207603	+	Frame_Shift_Ins	INS	-	-	G	rs7135148|rs71092788		TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr12:53207602_53207603insG	ENST00000551956.1	-	1	732_733	c.240_241insC	c.(238-243)tttggcfs	p.G81fs	KRT4_ENST00000458244.2_Frame_Shift_Ins_p.G61fs|KRT4_ENST00000293774.4_Frame_Shift_Ins_p.G155fs			P19013	K2C4_HUMAN	keratin 4	81	Gly-rich.|Head.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CCACCAGTGCCAAAGCCTCCAG	0.599																																					Pancreas(190;284 2995 41444 45903)												0			12																																								51493870	SO:0001589	frameshift_variant	3851				CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.240_241insC	12.37:g.53207602_53207603insG	ENSP00000448220:p.Gly81fs		51493869	F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Frame_Shift_Ins	INS	ENST00000551956.1	37	CCDS41787.2																																																																																				0.599	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272	
RBM23	55147	hgsc.bcm.edu	37	14	23371255	23371256	+	In_Frame_Ins	INS	-	-	GGC	rs61680322|rs369028004|rs537322812|rs397812315|rs576463132	byFrequency	TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr14:23371255_23371256insGGC	ENST00000359890.3	-	12	1374_1375	c.1179_1180insGCC	c.(1177-1182)gcccag>gccGCCcag	p.393_394insA	RBM23_ENST00000555209.1_In_Frame_Ins_p.143_144insA|RBM23_ENST00000346528.5_In_Frame_Ins_p.359_360insA|RBM23_ENST00000399922.2_In_Frame_Ins_p.377_378insA|RBM23_ENST00000542016.2_In_Frame_Ins_p.223_224insA	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23	393	Ala-rich.		A -> AA. {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:15498874, ECO:0000269|Ref.1}.		mRNA processing (GO:0006397)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		GCAGCAGCCTGGgcggcggcgg	0.554																																																	0			14																																								22441096	SO:0001652	inframe_insertion	55147			AF275678	CCDS41919.1, CCDS41920.1, CCDS41921.1	14q11.1	2014-07-03	2004-04-23	2004-04-23		ENSG00000100461		"""RNA binding motif (RRM) containing"""	20155	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen recep- tors beta"""		"""RNA-binding region (RNP1, RRM) containing 4"""	RNPC4		15694343	Standard	NM_018107		Approved	FLJ10482, CAPERbeta	uc001whg.3	Q86U06		ENST00000359890.3:c.1177_1179dupGCC	14.37:g.23371262_23371264dupGGC	ENSP00000352956:p.Ala396_Ala397dup		22441095	D3DS32|Q8ND16|Q8TB88|Q8WY40|Q9BUJ1|Q9NVV7	In_Frame_Ins	INS	ENST00000359890.3	37	CCDS41921.1																																																																																				0.554	RBM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000413545.3		
HYDIN	54768	hgsc.bcm.edu	37	16	70954693	70954694	+	In_Frame_Ins	INS	-	-	CCC			TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr16:70954693_70954694insCCC	ENST00000393567.2	-	46	7735_7736	c.7585_7586insGGG	c.(7585-7587)gag>gGGGag	p.2528_2529insG		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2528					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ctccgccttctccctctccagg	0.698																																																	0			16																																								69512195	SO:0001652	inframe_insertion	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.7583_7585dupGGG	16.37:g.70954694_70954696dupCCC	ENSP00000377197:p.Arg2528_Glu2529insGly		69512194	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	In_Frame_Ins	INS	ENST00000393567.2	37	CCDS59269.1																																																																																				0.698	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
C17orf100	388327	hgsc.bcm.edu	37	17	6555546	6555547	+	Frame_Shift_Ins	INS	-	-	G	rs77167354|rs56268735|rs397697335		TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr17:6555546_6555547insG	ENST00000391428.2	+	1	576_577	c.313_314insG	c.(313-315)cggfs	p.R105fs	CTC-281F24.1_ENST00000576138.1_RNA|MED31_ENST00000574128.1_5'Flank|MED31_ENST00000225728.3_5'Flank|MED31_ENST00000575197.1_5'Flank	NM_001105520.1	NP_001098990.1	A8MU93	CQ100_HUMAN	chromosome 17 open reading frame 100	105																	CCCGACCCCGCGGCCAAGCCGG	0.678													GGG|GG|GGG|deletion	5007	0.9998	1.0	0.9986	5008	,	,		14298	1.0		1.0	False		,,,				2504	1.0																0			17								3453,1,14		1726,1,0,0,0,7						-0.5	0.0		dbSNP_134	14	7477,9,20		3733,7,4,1,0,8	no	codingComplex	C17orf100	NM_001105520.1		5459,8,4,1,0,15	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3864,0.4325,0.4009				10930,10,34				6496271	SO:0001589	frameshift_variant	388327			BC028174, BC038956, BC052606	CCDS73952.1	17p13.2	2014-04-10			ENSG00000212734	ENSG00000256806			34494	protein-coding gene	gene with protein product							Standard	NM_001105520		Approved	LOC388327	uc010clp.1	A8MU93	OTTHUMG00000188340	ENST00000391428.2:c.315dupG	17.37:g.6555548_6555548dupG	ENSP00000375247:p.Arg105fs		6496270		Frame_Shift_Ins	INS	ENST00000391428.2	37																																																																																					0.678	C17orf100-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255575.2	NM_001105520	
TXNDC2	84203	hgsc.bcm.edu	37	18	9887389	9887433	+	In_Frame_Del	DEL	GAAGCCATCCAGCCCAAGGAGGGTGACATCCCCAAGTCCCCAGAA	GAAGCCATCCAGCCCAAGGAGGGTGACATCCCCAAGTCCCCAGAA	-	rs148775952|rs2240910|rs368943432|rs2240909|rs2240908|rs191244385|rs2240907|rs371825355	byFrequency	TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	GAAGCCATCCAGCCCAAGGAGGGTGACATCCCCAAGTCCCCAGAA	GAAGCCATCCAGCCCAAGGAGGGTGACATCCCCAAGTCCCCAGAA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr18:9887389_9887433delGAAGCCATCCAGCCCAAGGAGGGTGACATCCCCAAGTCCCCAGAA	ENST00000306084.6	+	2	1112_1156	c.913_957delGAAGCCATCCAGCCCAAGGAGGGTGACATCCCCAAGTCCCCAGAA	c.(913-957)gaagccatccagcccaaggagggtgacatccccaagtccccagaadel	p.EAIQPKEGDIPKSPE305del	TXNDC2_ENST00000536353.2_Stop_Codon_Del|TXNDC2_ENST00000357775.5_In_Frame_Del_p.EAIQPKEGDIPKSPE238del	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	305	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)	p.I247L(2)|p.G245S(1)|p.I314L(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCCTAGAGGAAGCCATCCAGCCCAAGGAGGGTGACATCCCCAAGTCCCCAGAAGAAGCCATCC	0.6																																																	4	Substitution - Missense(4)	kidney(2)|skin(2)	18																																								9877433	SO:0001651	inframe_deletion	84203			AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.913_957delGAAGCCATCCAGCCCAAGGAGGGTGACATCCCCAAGTCCCCAGAA	18.37:g.9887389_9887433delGAAGCCATCCAGCCCAAGGAGGGTGACATCCCCAAGTCCCCAGAA	ENSP00000304908:p.Glu305_Glu319del		9877389	A5YM73|Q8N7U4|Q96RX3|Q9H0L8	In_Frame_Del	DEL	ENST00000306084.6	37	CCDS42414.1																																																																																				0.600	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1		
KRTAP10-7	386675	hgsc.bcm.edu	37	21	46020656	46020670	+	In_Frame_Del	DEL	CTGCTGCGCCCCCAG	CTGCTGCGCCCCCAG	-	rs36208679|rs60739860|rs373191083		TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	CTGCTGCGCCCCCAG	CTGCTGCGCCCCCAG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr21:46020656_46020670delCTGCTGCGCCCCCAG	ENST00000380102.2	+	1	160_174	c.135_149delCTGCTGCGCCCCCAG	c.(133-150)ccctgctgcgcccccagc>ccc	p.CCAPS46del	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	46	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.S50_P54delSCCAP(1)		breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCGAGCCCCCCTGCTGCGCCCCCAGCTGCTGCGCC	0.698																																																	1	Deletion - In frame(1)	upper_aerodigestive_tract(1)	21							,	2258,1042		849,560,241					,	-0.7	1.0		dbSNP_126	22	6001,1123		2605,791,166	no	coding,intron	TSPEAR,KRTAP10-7	NM_198689.2,NM_144991.2	,	3454,1351,407	A1A1,A1R,RR		15.7636,31.5758,20.7694	,	,		8259,2165				44845098	SO:0001651	inframe_deletion	386675			AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.135_149delCTGCTGCGCCCCCAG	21.37:g.46020656_46020670delCTGCTGCGCCCCCAG	ENSP00000369445:p.Cys46_Ser50del		44845084	Q0VDJ8|Q70LJ2	Frame_Shift_Del	DEL	ENST00000380102.2	37																																																																																					0.698	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689	
NEFH	4744	hgsc.bcm.edu	37	22	29885567	29885568	+	In_Frame_Ins	INS	-	-	AAGTCCCCTGAGAAGGCC	rs147489453|rs559153194|rs75808076|rs59279731		TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr22:29885567_29885568insAAGTCCCCTGAGAAGGCC	ENST00000310624.6	+	4	1971_1972	c.1938_1939insAAGTCCCCTGAGAAGGCC	c.(1939-1941)aag>AAGTCCCCTGAGAAGGCCaag	p.647_647K>KSPEKAK		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	653	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						AGGAGGAAGCAAAGTCCCCTGA	0.569																																																	0			22								2816,1448		937,942,253						-5.3	0.0		dbSNP_134	77	5046,3206		1537,1972,617	no	coding	NEFH	NM_021076.3		2474,2914,870	A1A1,A1R,RR		38.8512,33.9587,37.1844				7862,4654				28215568	SO:0001652	inframe_insertion	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.1939_1956dupAAGTCCCCTGAGAAGGCC	22.37:g.29885567_29885568insAAGTCCCCTGAGAAGGCC	Exception_encountered		28215567	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Ins	INS	ENST00000310624.6	37	CCDS13858.1																																																																																				0.569	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076	
CDC42EP1	11135	hgsc.bcm.edu	37	22	37964409	37964429	+	In_Frame_Del	DEL	CAGCGCCTGCTGCAAACCCCT	CAGCGCCTGCTGCAAACCCCT	-	rs13056859|rs13055845|rs77417880|rs62235033|rs62235034|rs187761157|rs66468174|rs200195385	byFrequency	TCGA-DC-6158-01A-11D-1657-10	TCGA-DC-6158-10A-01D-1657-10	CAGCGCCTGCTGCAAACCCCT	CAGCGCCTGCTGCAAACCCCT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	989088f8-382e-4bc6-8c9f-edfcda3bdde5	5213f89c-4979-404a-88ff-16157531d747	g.chr22:37964409_37964429delCAGCGCCTGCTGCAAACCCCT	ENST00000249014.4	+	3	1178_1198	c.758_778delCAGCGCCTGCTGCAAACCCCT	c.(757-780)ccagcgcctgctgcaaacccctca>cca	p.APAANPS254del		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	254	8 X 7 AA tandem repeats of [PT]-[AT]-A- [ENT]-[PT]-[PTS]-[AG].				positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)		p.N258_A264delNPSAPAA(3)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					GCAAACCCCCCAGCGCCTGCTGCAAACCCCTCAGCACCTGC	0.665																																																	3	Deletion - In frame(3)	large_intestine(2)|haematopoietic_and_lymphoid_tissue(1)	22								868,3338		98,672,1333						1.5	0.0		dbSNP_130	10	4310,3696		1298,1714,991	no	coding	CDC42EP1	NM_152243.2		1396,2386,2324	A1A1,A1R,RR		46.1654,20.6372,42.4009				5178,7034				36294375	SO:0001651	inframe_deletion	11135			M88338	CCDS13949.1	22q13.1	2008-06-11			ENSG00000128283	ENSG00000128283			17014	protein-coding gene	gene with protein product	"""55 kDa bone marrow stromal/endothelial cell protein"", ""serum constituent protein"""	606084				1629197, 10430899	Standard	NM_152243		Approved	MSE55, CEP1, Borg5	uc003asz.4	Q00587	OTTHUMG00000150591	ENST00000249014.4:c.758_778delCAGCGCCTGCTGCAAACCCCT	22.37:g.37964409_37964429delCAGCGCCTGCTGCAAACCCCT	ENSP00000249014:p.Ala254_Ser260del		36294355	A8K825|Q96GN1	In_Frame_Del	DEL	ENST00000249014.4	37	CCDS13949.1																																																																																				0.665	CDC42EP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318993.1	NM_152243	
