#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_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_TranscriptID	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
PDE1C	5137	hgsc.bcm.edu	37	7	31918638	31918638	+	Silent	SNP	G	G	A	rs187122903	byFrequency	TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	g.chr7:31918638G>A	ENST00000396191.1	-	4	851	c.396C>T	c.(394-396)caC>caT	p.H132H	PDE1C_ENST00000396193.1_Silent_p.H192H|PDE1C_ENST00000321453.7_Silent_p.H132H|PDE1C_ENST00000396182.2_Silent_p.H132H|PDE1C_ENST00000396184.3_Silent_p.H132H	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	132					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.H132H(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	CCTGCACTGCGTGAACGATGC	0.522													G|||	3	0.000599042	0.0	0.0	5008	,	,		18243	0.003		0.0	False		,,,				2504	0.0				p.H132H												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C396T	7						.						139.0	126.0	131.0					7																	31918638		2203	4300	6503	31885163	SO:0001819	synonymous_variant	5137	exon4			U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.396C>T	7.37:g.31918638G>A			31885163	NM_001191056	B3KPC6|E9PE92|Q14124|Q8NB10	Silent	SNP	ENST00000396191.1	37	CCDS55099.1																																																																																				0.522	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1		
KCNH5	27133	hgsc.bcm.edu	37	14	63269181	63269181	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	g.chr14:63269181G>A	ENST00000322893.7	-	9	1956	c.1688C>T	c.(1687-1689)gCg>gTg	p.A563V	KCNH5_ENST00000394968.1_Missense_Mutation_p.A505V|KCNH5_ENST00000420622.2_Missense_Mutation_p.A563V	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	563					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.A563V(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GAACTCTACCGCCAAGGCGCG	0.502																																					p.A505V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1514T	14						.						88.0	81.0	84.0					14																	63269181		2203	4300	6503	62338934	SO:0001583	missense	27133	exon9			U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.1688C>T	14.37:g.63269181G>A	ENSP00000321427:p.Ala563Val		62338934	NM_172376	C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	33	5.274540	0.95459	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968	D;D;D	0.96913	-4.17;-4.17;-4.17	5.13	5.13	0.70059	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.98429	0.9477	M	0.88310	2.945	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.99437	1.0937	10	0.87932	D	0	.	18.9449	0.92618	0.0:0.0:1.0:0.0	.	505;563;563	Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;KCNH5_HUMAN	V	563;563;505	ENSP00000321427:A563V;ENSP00000395439:A563V;ENSP00000378419:A505V	ENSP00000321427:A563V	A	-	2	0	KCNH5	62338934	1.000000	0.71417	0.957000	0.39632	0.968000	0.65278	9.813000	0.99286	2.563000	0.86464	0.563000	0.77884	GCG		0.502	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318	
VSX2	338917	hgsc.bcm.edu	37	14	74726374	74726374	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	g.chr14:74726374G>A	ENST00000261980.2	+	4	739	c.649G>A	c.(649-651)Gcg>Acg	p.A217T		NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN	visual system homeobox 2	217	CVC. {ECO:0000255|PROSITE- ProRule:PRU00829}.				cell fate commitment (GO:0045165)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.A217T(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		CAGTGTCATGGCGGAGTATGG	0.627																																					p.A217T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G649A	14						.						134.0	111.0	119.0					14																	74726374		2203	4300	6503	73796127	SO:0001583	missense	338917	exon4			AC005519	CCDS9827.1	14q24.3	2011-06-20	2007-08-21	2007-08-21		ENSG00000119614		"""Homeoboxes / PRD class"""	1975	protein-coding gene	gene with protein product		142993	"""C elegans ceh-10 homeo domain-containing homolog"", ""ceh-10 homeo domain containing homolog (C. elegans)"", ""ceh-10 homeodomain containing homolog (C. elegans)"""	HOX10, CHX10		1973146	Standard	NM_182894		Approved	RET1	uc001xpq.3	P58304		ENST00000261980.2:c.649G>A	14.37:g.74726374G>A	ENSP00000261980:p.Ala217Thr		73796127	NM_182894	A1A4X6	Missense_Mutation	SNP	ENST00000261980.2	37	CCDS9827.1	.	.	.	.	.	.	.	.	.	.	G	35	5.580692	0.96565	.	.	ENSG00000119614	ENST00000261980	D	0.92495	-3.05	5.28	5.28	0.74379	CVC domain (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.95468	0.8528	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94030	0.7300	10	0.34782	T	0.22	.	19.1173	0.93346	0.0:0.0:1.0:0.0	.	217	P58304	VSX2_HUMAN	T	217	ENSP00000261980:A217T	ENSP00000261980:A217T	A	+	1	0	VSX2	73796127	1.000000	0.71417	0.999000	0.59377	0.893000	0.52053	9.578000	0.98200	2.746000	0.94184	0.655000	0.94253	GCG		0.627	VSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412323.1	NM_182894	
PRAME	23532	hgsc.bcm.edu	37	22	22892401	22892401	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	g.chr22:22892401A>C	ENST00000398741.1	-	5	1006	c.700T>G	c.(700-702)Tct>Gct	p.S234A	PRAME_ENST00000398743.2_Missense_Mutation_p.S234A|PRAME_ENST00000543184.1_Missense_Mutation_p.S234A|PRAME_ENST00000424204.2_Missense_Mutation_p.S218A|PRAME_ENST00000485532.1_5'Flank|PRAME_ENST00000405655.3_Missense_Mutation_p.S234A|PRAME_ENST00000539862.1_Missense_Mutation_p.S218A|PRAME_ENST00000402697.1_Missense_Mutation_p.S234A	NM_206955.1	NP_996838.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	234					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	retinoic acid receptor binding (GO:0042974)	p.S234A(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		TCTTCAATAGAGTCCAGCTGC	0.448																																					p.S234A	Melanoma(73;1707 1838 15168 27201)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T700G	22						.						92.0	89.0	90.0					22																	22892401		2203	4300	6503	21222401	SO:0001583	missense	23532	exon5			U65011	CCDS13801.1	22q11.22	2013-01-17			ENSG00000185686	ENSG00000185686		"""-"""	9336	protein-coding gene	gene with protein product	"""cancer/testis antigen 130"""	606021		MAPE		9047241, 10591208	Standard	XM_006725402		Approved	CT130	uc002zwj.3	P78395	OTTHUMG00000151172	ENST00000398741.1:c.700T>G	22.37:g.22892401A>C	ENSP00000381726:p.Ser234Ala		21222401	NM_206955	B2R6Y7|O43481|Q8IXN8	Missense_Mutation	SNP	ENST00000398741.1	37	CCDS13801.1	.	.	.	.	.	.	.	.	.	.	.	10.95	1.496440	0.26861	.	.	ENSG00000185686	ENST00000398743;ENST00000543184;ENST00000398741;ENST00000405655;ENST00000539862;ENST00000402697;ENST00000424204	T;T;T;T;T;T;T	0.01068	5.38;5.38;5.38;5.38;5.38;5.38;5.38	3.56	3.56	0.40772	.	0.242826	0.35615	N	0.003093	T	0.02380	0.0073	M	0.80422	2.495	0.20703	N	0.999868	P	0.36171	0.541	B	0.38803	0.282	T	0.26916	-1.0089	10	0.39692	T	0.17	.	8.7981	0.34892	1.0:0.0:0.0:0.0	.	234	P78395	PRAME_HUMAN	A	234;234;234;234;218;234;218	ENSP00000381728:S234A;ENSP00000445675:S234A;ENSP00000381726:S234A;ENSP00000384343:S234A;ENSP00000445097:S218A;ENSP00000385198:S234A;ENSP00000407342:S218A	ENSP00000381726:S234A	S	-	1	0	PRAME	21222401	0.990000	0.36364	0.825000	0.32803	0.012000	0.07955	2.845000	0.48254	1.850000	0.53721	0.533000	0.62120	TCT		0.448	PRAME-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321644.1	NM_206953	
EMR1	2015	hgsc.bcm.edu	37	19	6924789	6924789	+	Missense_Mutation	SNP	G	G	A	rs376623069		TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	g.chr19:6924789G>A	ENST00000312053.4	+	15	1929	c.1892G>A	c.(1891-1893)cGa>cAa	p.R631Q	EMR1_ENST00000450315.3_Missense_Mutation_p.R454Q|EMR1_ENST00000381407.5_Missense_Mutation_p.R490Q|EMR1_ENST00000250572.8_Intron|EMR1_ENST00000381404.4_Missense_Mutation_p.R579Q	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	631					cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.R631Q(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CGCTCCATCCGAAATCACAAC	0.512																																					p.R631Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1892A	19						.	G	GLN/ARG	0,4406		0,0,2203	265.0	168.0	201.0		1892	-3.8	0.0	19		201	1,8599	1.2+/-3.3	0,1,4299	no	missense	EMR1	NM_001974.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	631/887	6924789	1,13005	2203	4300	6503	6875789	SO:0001583	missense	2015	exon15			X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.1892G>A	19.37:g.6924789G>A	ENSP00000311545:p.Arg631Gln		6875789	NM_001974	A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	ENST00000312053.4	37	CCDS12175.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.041569	0.00402	0.0	1.16E-4	ENSG00000174837	ENST00000312053;ENST00000381404;ENST00000381407;ENST00000450315	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	3.61	-3.83	0.04269	GPCR, family 2-like (1);	.	.	.	.	T	0.16642	0.0400	N	0.17564	0.495	0.09310	N	1	B;B;B;B	0.34399	0.056;0.452;0.113;0.393	B;B;B;B	0.26614	0.014;0.055;0.053;0.071	T	0.28396	-1.0045	9	0.02654	T	1	.	8.653	0.34046	0.7332:0.0:0.2668:0.0	.	454;490;579;631	E7EPX9;B7Z486;E9PD45;Q14246	.;.;.;EMR1_HUMAN	Q	631;579;490;454	ENSP00000311545:R631Q;ENSP00000370811:R579Q;ENSP00000370814:R490Q;ENSP00000405974:R454Q	ENSP00000311545:R631Q	R	+	2	0	EMR1	6875789	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.056000	0.11787	-0.498000	0.06632	-0.793000	0.03317	CGA		0.512	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1		
SYMPK	8189	hgsc.bcm.edu	37	19	46345575	46345575	+	Silent	SNP	C	C	T			TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	g.chr19:46345575C>T	ENST00000245934.7	-	9	1264	c.1020G>A	c.(1018-1020)ccG>ccA	p.P340P		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	340					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.P340P(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CCTTGCTGCTCGGCATGTTGC	0.652																																					p.P340P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1020A	19						.						70.0	67.0	68.0					19																	46345575		2203	4300	6503	51037415	SO:0001819	synonymous_variant	8189	exon9			U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.1020G>A	19.37:g.46345575C>T			51037415	NM_004819	O00521|O00689|O00733|Q59GT5|Q8N2U5	Silent	SNP	ENST00000245934.7	37	CCDS12676.2																																																																																				0.652	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819	
PTK2B	2185	hgsc.bcm.edu	37	8	27296585	27296585	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	g.chr8:27296585G>T	ENST00000397501.1	+	24	2489	c.1681G>T	c.(1681-1683)Gag>Tag	p.E561*	PTK2B_ENST00000338238.4_Nonsense_Mutation_p.E561*|PTK2B_ENST00000397497.4_Nonsense_Mutation_p.E307*|PTK2B_ENST00000420218.2_Nonsense_Mutation_p.E561*|PTK2B_ENST00000346049.5_Nonsense_Mutation_p.E561*|PTK2B_ENST00000517339.1_Nonsense_Mutation_p.E561*|PTK2B_ENST00000544172.1_Nonsense_Mutation_p.E561*	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	561	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)	p.E561*(2)|p.E307*(1)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	GGCCTCCCCTGAGTGTGTGAA	0.582																																					p.E561X												.	.	3	Substitution - Nonsense(3)	large_intestine(3)	c.G1681T	8						.						114.0	98.0	104.0					8																	27296585		2203	4300	6503	27352502	SO:0001587	stop_gained	2185	exon19			U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"""protein tyrosine kinase 2 beta"", ""PTK2B protein tyrosine kinase 2 beta"""	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.1681G>T	8.37:g.27296585G>T	ENSP00000380638:p.Glu561*		27352502	NM_173176	D3DST0|Q13475|Q14290|Q16709|Q6PID4	Nonsense_Mutation	SNP	ENST00000397501.1	37	CCDS6057.1	.	.	.	.	.	.	.	.	.	.	G	47	13.258634	0.99730	.	.	ENSG00000120899	ENST00000397501;ENST00000539100;ENST00000338238;ENST00000544172;ENST00000346049;ENST00000420218;ENST00000517339;ENST00000397497	.	.	.	5.59	4.72	0.59763	.	0.228496	0.52532	D	0.000080	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	12.3021	0.54880	0.0821:0.0:0.9179:0.0	.	.	.	.	X	561;566;561;561;561;561;561;307	.	ENSP00000342242:E561X	E	+	1	0	PTK2B	27352502	1.000000	0.71417	0.969000	0.41365	0.976000	0.68499	7.989000	0.88205	1.371000	0.46172	0.561000	0.74099	GAG		0.582	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103	
DNAJC16	23341	hgsc.bcm.edu	37	1	15893648	15893648	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	g.chr1:15893648C>G	ENST00000375847.3	+	14	1997	c.1833C>G	c.(1831-1833)taC>taG	p.Y611*	RP4-680D5.8_ENST00000606186.1_RNA|DNAJC16_ENST00000483270.1_3'UTR|DNAJC16_ENST00000375849.1_Nonsense_Mutation_p.Y611*	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	611					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)		p.Y611*(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		ATGTAACATACACCAGTAACT	0.453																																					p.Y611X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1833G	1						.						158.0	136.0	144.0					1																	15893648		2203	4300	6503	15766235	SO:0001587	stop_gained	23341	exon14			AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"""Heat shock proteins / DNAJ (HSP40)"""	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.1833C>G	1.37:g.15893648C>G	ENSP00000365007:p.Tyr611*		15766235	NM_015291	Q68D57|Q86X32|Q8N5P4	Nonsense_Mutation	SNP	ENST00000375847.3	37	CCDS30606.1	.	.	.	.	.	.	.	.	.	.	C	38	7.134797	0.98085	.	.	ENSG00000116138	ENST00000375847;ENST00000375849	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.8868	18.8256	0.92117	0.0:1.0:0.0:0.0	.	.	.	.	X	611	.	ENSP00000365007:Y611X	Y	+	3	2	DNAJC16	15766235	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.256000	0.32921	2.793000	0.96121	0.655000	0.94253	TAC		0.453	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006764.1	NM_015291	
DAB1	1600	hgsc.bcm.edu	37	1	57756660	57756660	+	Missense_Mutation	SNP	C	C	T	rs376587394		TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	g.chr1:57756660C>T	ENST00000371231.1	-	1	77	c.43G>A	c.(43-45)Gcc>Acc	p.A15T	DAB1_ENST00000371236.2_Missense_Mutation_p.A15T|DAB1_ENST00000414851.2_Missense_Mutation_p.A15T|DAB1_ENST00000439789.2_Missense_Mutation_p.A15T|DAB1_ENST00000371234.4_Missense_Mutation_p.A15T|DAB1_ENST00000371230.1_Missense_Mutation_p.A15T|DAB1_ENST00000420954.2_Missense_Mutation_p.A15T|DAB1_ENST00000485760.1_5'UTR			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	15				A -> T (in Ref. 6; AAI12939). {ECO:0000305}.	adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)		p.A15T(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TCTTTCTTGGCGCTGGTTTTC	0.438													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16208	0.0		0.0	False		,,,				2504	0.0				p.A15T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G43A	1						.	C	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	148.0	137.0	141.0		43	-0.5	1.0	1		141	0,8600		0,0,4300	no	missense	DAB1	NM_021080.3	58	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	15/556	57756660	2,13004	2203	4300	6503	57529248	SO:0001583	missense	1600	exon4			BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.43G>A	1.37:g.57756660C>T	ENSP00000360275:p.Ala15Thr		57529248	NM_021080	A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Missense_Mutation	SNP	ENST00000371231.1	37		.	.	.	.	.	.	.	.	.	.	C	4.790	0.146917	0.09134	4.54E-4	0.0	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000420954;ENST00000414851;ENST00000439789;ENST00000371231;ENST00000371232;ENST00000332102;ENST00000371230	T;T;T;T;T;T;T;T;T	0.63580	0.97;0.97;0.97;1.02;1.97;0.97;0.96;-0.03;-0.05	5.43	-0.486	0.12064	.	0.747120	0.13152	N	0.409801	T	0.27349	0.0671	N	0.02011	-0.69	0.21604	N	0.999621	B;B;B;B;B	0.28760	0.0;0.0;0.003;0.221;0.001	B;B;B;B;B	0.16722	0.001;0.0;0.003;0.016;0.002	T	0.23332	-1.0191	10	0.12103	T	0.63	-31.5704	9.6483	0.39881	0.0:0.2638:0.0:0.7362	.	15;15;15;15;15	O75553-4;O75553;O75553-6;O75553-3;O75553-5	.;DAB1_HUMAN;.;.;.	T	15	ENSP00000360280:A15T;ENSP00000360278:A15T;ENSP00000395296:A15T;ENSP00000387581:A15T;ENSP00000409328:A15T;ENSP00000360275:A15T;ENSP00000360276:A15T;ENSP00000329120:A15T;ENSP00000360274:A15T	ENSP00000329120:A15T	A	-	1	0	DAB1	57529248	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	0.650000	0.24858	-0.094000	0.12374	-0.140000	0.14226	GCC		0.438	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080	
GUCY1A2	2977	hgsc.bcm.edu	37	11	106647171	106647171	+	Silent	SNP	C	C	T			TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	g.chr11:106647171C>T	ENST00000526355.2	-	6	2298	c.1830G>A	c.(1828-1830)ccG>ccA	p.P610P	GUCY1A2_ENST00000347596.2_Silent_p.P631P|GUCY1A2_ENST00000282249.2_Silent_p.P610P	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	610	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)	p.P610P(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	TTACCTGAATCGGTCTTCCAT	0.438																																					p.P610P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1830A	11						.						87.0	69.0	75.0					11																	106647171		2201	4298	6499	106152381	SO:0001819	synonymous_variant	2977	exon6			X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.1830G>A	11.37:g.106647171C>T			106152381	NM_000855	A1L4C4|B7ZLT5	Silent	SNP	ENST00000526355.2	37	CCDS8335.1																																																																																				0.438	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2		
GRIK4	2900	hgsc.bcm.edu	37	11	120686116	120686116	+	Missense_Mutation	SNP	G	G	A	rs201218411		TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	g.chr11:120686116G>A	ENST00000527524.2	+	5	564	c.277G>A	c.(277-279)Gct>Act	p.A93T	GRIK4_ENST00000438375.2_Missense_Mutation_p.A93T	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	93					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.A93T(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		GGGGGTGGTCGCTGTCCTCGG	0.607																																					p.A93T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G277A	11						.	G	THR/ALA	1,4343		0,1,2171	57.0	39.0	45.0		277	5.0	1.0	11		45	1,8461		0,1,4230	yes	missense	GRIK4	NM_014619.2	58	0,2,6401	AA,AG,GG		0.0118,0.023,0.0156	benign	93/957	120686116	2,12804	2172	4231	6403	120191326	SO:0001583	missense	2900	exon3			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.277G>A	11.37:g.120686116G>A	ENSP00000435648:p.Ala93Thr		120191326	NM_014619	A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.600644	0.87055	2.3E-4	1.18E-4	ENSG00000149403	ENST00000527524;ENST00000438375	D;D	0.88201	-2.35;-2.35	5.01	5.01	0.66863	Extracellular ligand-binding receptor (1);	0.115760	0.56097	D	0.000022	D	0.89931	0.6858	L	0.58101	1.795	0.47862	D	0.999533	P;P	0.49185	0.92;0.92	P;P	0.47251	0.542;0.542	D	0.91457	0.5186	10	0.87932	D	0	.	18.3385	0.90297	0.0:0.0:1.0:0.0	.	93;93	A6H8K8;Q16099	.;GRIK4_HUMAN	T	93	ENSP00000435648:A93T;ENSP00000404063:A93T	ENSP00000404063:A93T	A	+	1	0	GRIK4	120191326	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	4.772000	0.62324	2.313000	0.78055	0.467000	0.42956	GCT		0.607	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619	
PKHD1	5314	hgsc.bcm.edu	37	6	51768466	51768466	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	g.chr6:51768466C>T	ENST00000371117.3	-	43	7200	c.6925G>A	c.(6925-6927)Gag>Aag	p.E2309K	PKHD1_ENST00000340994.4_Missense_Mutation_p.E2309K	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2309					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.E2309K(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAGAGTCCCTCGGCACCAGAA	0.428																																					p.E2309K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6925A	6						.						192.0	174.0	180.0					6																	51768466		2203	4300	6503	51876425	SO:0001583	missense	5314	exon43			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.6925G>A	6.37:g.51768466C>T	ENSP00000360158:p.Glu2309Lys		51876425	NM_170724	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822784	0.71028	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.80304	-1.36;-1.36	5.87	5.87	0.94306	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.376162	0.25619	N	0.029438	D	0.85066	0.5612	M	0.71581	2.175	0.40270	D	0.978272	D;D;D	0.71674	0.998;0.992;0.998	P;P;P	0.60609	0.837;0.585;0.877	T	0.83066	-0.0145	10	0.35671	T	0.21	.	17.3804	0.87403	0.0:1.0:0.0:0.0	.	2309;2309;2309	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	K	2309	ENSP00000360158:E2309K;ENSP00000341097:E2309K	ENSP00000341097:E2309K	E	-	1	0	PKHD1	51876425	0.984000	0.35163	0.965000	0.40720	0.368000	0.29767	4.428000	0.59894	2.770000	0.95276	0.650000	0.86243	GAG		0.428	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
BMP5	653	hgsc.bcm.edu	37	6	55739499	55739500	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	AA	AA	AA	-	AA	AA	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	g.chr6:55739499_55739500delAA	ENST00000370830.3	-	1	862_863	c.164_165delTT	c.(163-165)attfs	p.I55fs	BMP5_ENST00000446683.2_Frame_Shift_Del_p.I55fs	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	55					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)	p.I55fs*36(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			AGATAGAGAGAATTTCCCTTTG	0.441																																					p.55_55del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.164_165del	6						.																																			55847459	SO:0001589	frameshift_variant	653	exon1				CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.164_165delTT	6.37:g.55739499_55739500delAA	ENSP00000359866:p.Ile55fs		55847458	NM_021073	B4E0Y4|Q9H547|Q9NTM5	Frame_Shift_Del	DEL	ENST00000370830.3	37	CCDS4958.1																																																																																				0.441	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1		
LAMA4	3910	hgsc.bcm.edu	37	6	112450212	112450212	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	g.chr6:112450212T>C	ENST00000230538.7	-	31	4596	c.4199A>G	c.(4198-4200)tAt>tGt	p.Y1400C	LAMA4_ENST00000522006.1_Missense_Mutation_p.Y1393C|LAMA4_ENST00000389463.4_Missense_Mutation_p.Y1393C|LAMA4_ENST00000424408.2_Missense_Mutation_p.Y1393C	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1400	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.Y1393C(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GGGACACTCATAAAGAGAAGT	0.343																																					p.Y1393C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4178G	6						.						105.0	102.0	103.0					6																	112450212		2203	4300	6503	112556905	SO:0001583	missense	3910	exon31				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.4199A>G	6.37:g.112450212T>C	ENSP00000230538:p.Tyr1400Cys		112556905	NM_001105207	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	T	17.98	3.521160	0.64747	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.13089	2.64;2.62;2.62;2.62	5.59	4.42	0.53409	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.111433	0.64402	D	0.000005	T	0.20981	0.0505	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.986;0.999	T	0.00986	-1.1490	10	0.54805	T	0.06	.	12.0785	0.53657	0.129:0.0:0.0:0.871	.	1400;1393	Q16363;Q16363-2	LAMA4_HUMAN;.	C	1400;1393;1393;1393	ENSP00000230538:Y1400C;ENSP00000429488:Y1393C;ENSP00000374114:Y1393C;ENSP00000416470:Y1393C	ENSP00000230538:Y1400C	Y	-	2	0	LAMA4	112556905	1.000000	0.71417	0.856000	0.33681	0.942000	0.58702	3.386000	0.52492	0.943000	0.37553	-0.414000	0.06135	TAT		0.343	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206	
TP53	7157	hgsc.bcm.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	rs397516436		TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	g.chr17:7578212G>A	ENST00000269305.4	-	6	826	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*	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	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)	ACACTATGTCGAAAAGTGTTT	0.532		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)																											p.R213X	Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	TP53,central_nervous_system,brain,Substitution - Missense,+1	.	333	Substitution - Nonsense(292)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)	large_intestine(89)|breast(45)|lung(37)|upper_aerodigestive_tract(30)|central_nervous_system(18)|skin(16)|oesophagus(15)|stomach(14)|ovary(14)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(9)|biliary_tract(8)|liver(8)|soft_tissue(5)|endometrium(5)|bone(4)|prostate(3)|thyroid(1)|pancreas(1)|autonomic_ganglia(1)	c.C637T	17	GRCh37	CM951226	TP53	M		.						132.0	118.0	123.0					17																	7578212		2203	4300	6503	7518937	SO:0001587	stop_gained	7157	exon6	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.637C>T	17.37:g.7578212G>A	ENSP00000269305:p.Arg213*		7518937	NM_001126114	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	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	37	6.039727	0.97226	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	3.25	0.37280	.	0.057335	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5444	12.7263	0.57173	0.0:0.0:0.701:0.299	.	.	.	.	X	213;213;213;213;213;213;202;120;81;120;81	.	ENSP00000269305:R213X	R	-	1	2	TP53	7518937	0.971000	0.33674	0.123000	0.21794	0.957000	0.61999	1.659000	0.37387	0.702000	0.31825	0.563000	0.77884	CGA		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
PHKG2	5261	hgsc.bcm.edu	37	16	30764791	30764791	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	g.chr16:30764791G>A	ENST00000563588.1	+	6	708	c.469G>A	c.(469-471)Gag>Aag	p.E157K	PHKG2_ENST00000424889.3_Missense_Mutation_p.E157K|RP11-2C24.4_ENST00000483578.1_lincRNA|PHKG2_ENST00000328273.7_Missense_Mutation_p.E157K	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	157	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		E -> K (in GSD9C). {ECO:0000269|PubMed:12930917}.		carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|positive regulation of glycogen catabolic process (GO:0045819)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.E157K(1)		ovary(1)|skin(1)	2			Colorectal(24;0.198)			TCTGAAGCCCGAGAATATTCT	0.532																																					p.E157K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G469A	16	GRCh37	CM033438	PHKG2	M		.						73.0	72.0	72.0					16																	30764791		2197	4300	6497	30672292	SO:0001583	missense	5261	exon6			S73483, M31606	CCDS10690.1, CCDS54002.1	16p11.2	2008-02-05			ENSG00000156873	ENSG00000156873			8931	protein-coding gene	gene with protein product		172471				2915644, 8020963	Standard	NM_000294		Approved		uc021tgo.1	P15735	OTTHUMG00000132400	ENST00000563588.1:c.469G>A	16.37:g.30764791G>A	ENSP00000455607:p.Glu157Lys		30672292	NM_001172432	A8K0C7|B4DEB7|E9PEU3|P11800	Missense_Mutation	SNP	ENST00000563588.1	37	CCDS10690.1	.	.	.	.	.	.	.	.	.	.	G	36	5.745913	0.96882	.	.	ENSG00000156873	ENST00000328273;ENST00000424889	T;T	0.48201	0.82;0.82	5.52	5.52	0.82312	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	0.48286	D	0.000192	T	0.74764	0.3759	M	0.90145	3.09	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.69479	0.964;0.956	T	0.80441	-0.1381	10	0.87932	D	0	-18.2067	18.2169	0.89889	0.0:0.0:1.0:0.0	.	157;157	P15735;P15735-2	PHKG2_HUMAN;.	K	157	ENSP00000329968:E157K;ENSP00000388571:E157K	ENSP00000329968:E157K	E	+	1	0	PHKG2	30672292	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	9.869000	0.99810	2.586000	0.87340	0.655000	0.94253	GAG		0.532	PHKG2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255531.2	NM_000294	
ZFHX3	463	hgsc.bcm.edu	37	16	72992283	72992283	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	454			SOLID	TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	g.chr16:72992283G>T	ENST00000268489.5	-	2	2434	c.1762C>A	c.(1762-1764)Ctg>Atg	p.L588M	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	588					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCGAAGTCCAGCCTCCTGCCG	0.527																																					p.L588M												.	.	0			c.C1762A	16						.						102.0	98.0	99.0					16																	72992283		2198	4300	6498	71549784	SO:0001583	missense	463	exon2			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.1762C>A	16.37:g.72992283G>T	ENSP00000268489:p.Leu588Met		71549784	NM_006885	D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	8.692	0.907657	0.17833	.	.	ENSG00000140836	ENST00000268489	T	0.73897	-0.79	5.04	4.07	0.47477	.	0.000000	0.38959	N	0.001505	T	0.62295	0.2416	N	0.22421	0.69	0.80722	D	1	P	0.46277	0.875	P	0.44732	0.459	T	0.63726	-0.6572	10	0.46703	T	0.11	.	9.6021	0.39609	0.1564:0.0:0.8436:0.0	.	588	Q15911	ZFHX3_HUMAN	M	588	ENSP00000268489:L588M	ENSP00000268489:L588M	L	-	1	2	ZFHX3	71549784	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.554000	0.53720	2.505000	0.84491	0.650000	0.86243	CTG		0.527	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885	
NUP210	23225	hgsc.bcm.edu	37	3	13438876	13438876	+	Silent	SNP	G	G	T			TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	g.chr3:13438876G>T	ENST00000254508.5	-	3	499	c.417C>A	c.(415-417)atC>atA	p.I139I		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	139					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.I139I(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CCAGGGCCTGGATCTTCAGCT	0.592																																					p.I139I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C417A	3						.						68.0	63.0	64.0					3																	13438876		2203	4300	6503	13413876	SO:0001819	synonymous_variant	23225	exon3			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.417C>A	3.37:g.13438876G>T			13413876	NM_024923	A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Silent	SNP	ENST00000254508.5	37	CCDS33704.1																																																																																				0.592	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923	
HGD	3081	hgsc.bcm.edu	37	3	120352041	120352041	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	g.chr3:120352041C>G	ENST00000283871.5	-	13	1600	c.1141G>C	c.(1141-1143)Gcc>Ccc	p.A381P		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	381					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	homogentisate 1,2-dioxygenase activity (GO:0004411)|metal ion binding (GO:0046872)	p.A381P(1)		cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		ACCTTGCTGGCCTTCTCAAAG	0.557																																					p.A381P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1141C	3						.						109.0	87.0	95.0					3																	120352041		2203	4296	6499	121834731	SO:0001583	missense	3081	exon13				CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	1.13.11.5		4892	protein-coding gene	gene with protein product	"""homogentisate oxidase"""	607474	"""homogentisate 1,2-dioxygenase (homogentisate oxidase)"""	AKU		8188241	Standard	NM_000187		Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.1141G>C	3.37:g.120352041C>G	ENSP00000283871:p.Ala381Pro		121834731	NM_000187	A8K417|B2R8Z0	Missense_Mutation	SNP	ENST00000283871.5	37	CCDS3000.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.500071	0.85176	.	.	ENSG00000113924	ENST00000283871	D	0.99652	-6.3	5.2	5.2	0.72013	Cupin, RmlC-type (1);	0.120506	0.56097	D	0.000033	D	0.99704	0.9887	M	0.93420	3.415	0.58432	D	0.999994	D	0.64830	0.994	D	0.65443	0.935	D	0.97570	1.0104	10	0.87932	D	0	-26.5389	17.9055	0.88917	0.0:1.0:0.0:0.0	.	381	Q93099	HGD_HUMAN	P	381	ENSP00000283871:A381P	ENSP00000283871:A381P	A	-	1	0	HGD	121834731	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.403000	0.66338	2.703000	0.92315	0.460000	0.39030	GCC		0.557	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355410.1		
PLSCR2	57047	hgsc.bcm.edu	37	3	146171821	146171821	+	Missense_Mutation	SNP	C	C	T	rs202121042		TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	g.chr3:146171821C>T	ENST00000497985.1	-	7	1109	c.670G>A	c.(670-672)Gtg>Atg	p.V224M	PLSCR2_ENST00000336685.2_Missense_Mutation_p.V151M	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	224					phospholipid scrambling (GO:0017121)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid scramblase activity (GO:0017128)	p.V151M(1)		endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						CAGCTGCACACGATACATGGA	0.328																																					p.V151M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G451A	3						.	T	MET/VAL,MET/VAL	0,4406		0,0,2203	134.0	130.0	131.0		670,658	-7.3	0.0	3		131	1,8599		0,1,4299	no	missense,missense	PLSCR2	NM_001199978.1,NM_001199979.1	21,21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	224/298,220/294	146171821	1,13005	2203	4300	6503	147654511	SO:0001583	missense	57047	exon6				CCDS56284.1, CCDS3134.1, CCDS75029.1	3q24	2008-07-18			ENSG00000163746	ENSG00000163746			16494	protein-coding gene	gene with protein product		607610				10930526	Standard	NM_001199978		Approved		uc003evw.2	Q9NRY7	OTTHUMG00000159429	ENST00000497985.1:c.670G>A	3.37:g.146171821C>T	ENSP00000420132:p.Val224Met		147654511	NM_020359	B4DXC3|J3KR76|Q0VAQ1|Q6NSW9|Q7Z4L7	Missense_Mutation	SNP	ENST00000497985.1	37	CCDS56284.1	.	.	.	.	.	.	.	.	.	.	.	7.095	0.572978	0.13623	0.0	1.16E-4	ENSG00000163746	ENST00000336685;ENST00000535500;ENST00000497985;ENST00000489015	T;T;T	0.22743	1.94;1.94;1.94	3.64	-7.27	0.01461	.	2.014510	0.03824	N	0.268026	T	0.13756	0.0333	L	0.48642	1.525	0.09310	N	1	P;P	0.38617	0.64;0.64	B;B	0.36186	0.219;0.175	T	0.11792	-1.0573	10	0.31617	T	0.26	.	1.6987	0.02867	0.1445:0.2617:0.2301:0.3637	.	244;151	Q7Z4L7;Q9NRY7	.;PLS2_HUMAN	M	151;243;224;151	ENSP00000338707:V151M;ENSP00000420132:V224M;ENSP00000418444:V151M	ENSP00000338707:V151M	V	-	1	0	PLSCR2	147654511	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-6.259000	0.00073	-2.178000	0.00768	-3.098000	0.00064	GTG		0.328	PLSCR2-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000355264.1	NM_020359	
GLT1D1	144423	hgsc.bcm.edu	37	12	129373247	129373247	+	Missense_Mutation	SNP	C	C	T	rs73440307	byFrequency	TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	g.chr12:129373247C>T	ENST00000442111.2	+	3	369	c.281C>T	c.(280-282)gCg>gTg	p.A94V	GLT1D1_ENST00000281703.6_Missense_Mutation_p.A94V|GLT1D1_ENST00000537468.1_Missense_Mutation_p.A83V|GLT1D1_ENST00000542193.1_5'UTR			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	94					biosynthetic process (GO:0009058)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	transferase activity, transferring glycosyl groups (GO:0016757)	p.A94V(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		GCCAACCAGGCGGAAAAAAAC	0.428													C|||	275	0.0549121	0.2012	0.0101	5008	,	,		18309	0.0		0.002	False		,,,				2504	0.0				p.A94V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C281T	12						.	C	VAL/ALA	780,3626	314.1+/-293.5	69,642,1492	102.0	91.0	95.0		281	-4.8	0.0	12	dbSNP_130	95	17,8583	11.9+/-42.8	0,17,4283	yes	missense	GLT1D1	NM_144669.1	64	69,659,5775	TT,TC,CC		0.1977,17.7031,6.1279	benign	94/267	129373247	797,12209	2203	4300	6503	127939200	SO:0001583	missense	144423	exon3				CCDS9265.1	12q24.32	2013-02-22			ENSG00000151948	ENSG00000151948		"""Glycosyltransferase group 1 domain containing"""	26483	protein-coding gene	gene with protein product							Standard	NM_144669		Approved	FLJ31978	uc001uhx.1	Q96MS3	OTTHUMG00000168437	ENST00000442111.2:c.281C>T	12.37:g.129373247C>T	ENSP00000394692:p.Ala94Val		127939200	NM_144669	Q86XG8	Missense_Mutation	SNP	ENST00000442111.2	37		93	0.042582417582417584	87	0.17682926829268292	5	0.013812154696132596	0	0.0	1	0.0013192612137203166	C	4.904	0.168023	0.09339	0.177031	0.001977	ENSG00000151948	ENST00000442111;ENST00000281703;ENST00000537468	T;T;T	0.79247	-1.25;0.85;-1.25	5.4	-4.76	0.03229	.	0.871825	0.10188	N	0.705027	T	0.00144	0.0004	N	0.19112	0.55	0.58432	P	1.999999999946489E-6	B;B	0.31256	0.316;0.01	B;B	0.24006	0.05;0.001	T	0.01484	-1.1343	9	0.28530	T	0.3	-0.6374	4.7792	0.13194	0.5766:0.0974:0.2218:0.1043	.	83;94	F5H088;Q96MS3-2	.;.	V	94;94;83	ENSP00000394692:A94V;ENSP00000281703:A94V;ENSP00000438158:A83V	ENSP00000281703:A94V	A	+	2	0	GLT1D1	127939200	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.119000	0.03276	-1.063000	0.03177	-1.089000	0.02181	GCG		0.428	GLT1D1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000399740.1	NM_144669	
LMBR1L	55716	hgsc.bcm.edu	37	12	49497480	49497480	+	Silent	SNP	C	C	T			TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	g.chr12:49497480C>T	ENST00000267102.8	-	6	894	c.552G>A	c.(550-552)gaG>gaA	p.E184E	LMBR1L_ENST00000553204.1_5'Flank|LMBR1L_ENST00000395141.4_Silent_p.E179E|LMBR1L_ENST00000547382.1_Silent_p.E184E	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like	184					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E179E(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CATAGAGTGACTCTCTGTTGG	0.527																																					p.E184E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G552A	12						.						198.0	162.0	174.0					12																	49497480		2203	4300	6503	47783747	SO:0001819	synonymous_variant	55716	exon6			AB033000	CCDS8780.2, CCDS73466.1	12q13.12	2013-08-05	2013-08-05		ENSG00000139636	ENSG00000139636			18268	protein-coding gene	gene with protein product		610007	"""limb region 1 homolog (mouse)-like"""			10574461, 11287427	Standard	XM_005269022		Approved	FLJ10494, KIAA1174	uc001rth.4	Q6UX01	OTTHUMG00000150511	ENST00000267102.8:c.552G>A	12.37:g.49497480C>T			47783747	NM_018113	Q969J4|Q96BY8|Q96HN8|Q9NT09|Q9NVE1|Q9NVU9|Q9ULP6	Silent	SNP	ENST00000267102.8	37	CCDS8780.2																																																																																				0.527	LMBR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318696.1	NM_018113	
RIMBP2	23504	hgsc.bcm.edu	37	12	130892307	130892307	+	Silent	SNP	G	G	A	rs140888000		TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	g.chr12:130892307G>A	ENST00000261655.4	-	16	3052	c.2889C>T	c.(2887-2889)taC>taT	p.Y963Y		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	963	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.Y963Y(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CTCTGGGGTCGTAGTCATACA	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		18272	0.0		0.001	False		,,,				2504	0.0				p.Y963Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2889T	12						.	G		0,4406		0,0,2203	453.0	343.0	381.0		2889	-7.6	0.9	12	dbSNP_134	381	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RIMBP2	NM_015347.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		963/1053	130892307	1,13005	2203	4300	6503	129458260	SO:0001819	synonymous_variant	23504	exon16			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2889C>T	12.37:g.130892307G>A			129458260	NM_015347	Q96ID2	Silent	SNP	ENST00000261655.4	37	CCDS31925.1																																																																																				0.547	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347	
HMG20A	10363	hgsc.bcm.edu	37	15	77750834	77750834	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	g.chr15:77750834A>T	ENST00000381714.3	+	3	513	c.85A>T	c.(85-87)Act>Tct	p.T29S	HMG20A_ENST00000336216.4_Missense_Mutation_p.T29S	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A	29					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T29S(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						TCTGGCTACCACTGGGTAAGC	0.448																																					p.T29S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A85T	15						.						91.0	87.0	88.0					15																	77750834		2196	4294	6490	75537889	SO:0001583	missense	10363	exon3			AF146222	CCDS10295.1	15q24	2011-07-01	2011-04-05		ENSG00000140382	ENSG00000140382		"""High mobility group / Non-canonical"""	5001	protein-coding gene	gene with protein product	"""HMG box domain containing 1"""	605534	"""high-mobility group 20A"""			10773667	Standard	NM_018200		Approved	HMGX1, FLJ10739, HMGXB1	uc002bcr.3	Q9NP66	OTTHUMG00000143729	ENST00000381714.3:c.85A>T	15.37:g.77750834A>T	ENSP00000371133:p.Thr29Ser		75537889	NM_018200	A6NHY3|D3DW78|Q53G31|Q9NSF6	Missense_Mutation	SNP	ENST00000381714.3	37	CCDS10295.1	.	.	.	.	.	.	.	.	.	.	A	0.964	-0.702236	0.03255	.	.	ENSG00000140382	ENST00000336216;ENST00000381714	T;T	0.66995	-0.24;-0.24	5.66	-4.94	0.03057	.	0.413213	0.25929	N	0.027391	T	0.34337	0.0894	N	0.24115	0.695	0.09310	N	0.999999	B;B	0.09022	0.0;0.002	B;B	0.08055	0.003;0.003	T	0.38887	-0.9640	10	0.06757	T	0.87	-0.008	1.7145	0.02899	0.3635:0.1063:0.3234:0.2068	.	29;29	Q9NP66;Q9NP66-2	HM20A_HUMAN;.	S	29	ENSP00000336856:T29S;ENSP00000371133:T29S	ENSP00000336856:T29S	T	+	1	0	HMG20A	75537889	0.060000	0.20803	0.008000	0.14137	0.055000	0.15305	-0.099000	0.11007	-0.867000	0.04063	-1.204000	0.01649	ACT		0.448	HMG20A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419512.2	NM_018200	
LEF1	51176	hgsc.bcm.edu	37	4	108991878	108991878	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	g.chr4:108991878G>A	ENST00000265165.1	-	9	1711	c.1057C>T	c.(1057-1059)Cgg>Tgg	p.R353W	LEF1_ENST00000503879.1_5'UTR|LEF1_ENST00000379951.2_Missense_Mutation_p.R325W|LEF1_ENST00000510624.1_Missense_Mutation_p.R257W|LEF1_ENST00000438313.2_Missense_Mutation_p.R325W	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	353					alpha-beta T cell differentiation (GO:0046632)|anatomical structure regression (GO:0060033)|apoptotic process involved in morphogenesis (GO:0060561)|apoptotic process involved in patterning of blood vessels (GO:1902262)|B cell proliferation (GO:0042100)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|cellular response to cytokine stimulus (GO:0071345)|cellular response to interleukin-4 (GO:0071353)|chorio-allantoic fusion (GO:0060710)|dentate gyrus development (GO:0021542)|embryonic limb morphogenesis (GO:0030326)|epithelial to mesenchymal transition (GO:0001837)|eye pigmentation (GO:0048069)|face morphogenesis (GO:0060325)|forebrain neuroblast division (GO:0021873)|forebrain neuron differentiation (GO:0021879)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|mammary gland development (GO:0030879)|muscle fiber development (GO:0048747)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process in bone marrow (GO:0071866)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA binding (GO:0043392)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neutrophil differentiation (GO:0030223)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesoderm formation (GO:0048341)|patterning of blood vessels (GO:0001569)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell-cell adhesion (GO:0022407)|regulation of striated muscle tissue development (GO:0016202)|sensory perception of taste (GO:0050909)|somitogenesis (GO:0001756)|sprouting angiogenesis (GO:0002040)|steroid hormone mediated signaling pathway (GO:0043401)|T cell receptor V(D)J recombination (GO:0033153)|T-helper 1 cell differentiation (GO:0045063)|tongue development (GO:0043586)|trachea gland development (GO:0061153)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer binding (GO:0035326)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|gamma-catenin binding (GO:0045295)|histone binding (GO:0042393)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R353W(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		CTTTCTTTCCGTGCTAATTCA	0.438																																					p.R257W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C769T	4						.						170.0	159.0	163.0					4																	108991878		2203	4300	6503	109211327	SO:0001583	missense	51176	exon8				CCDS3679.1, CCDS47122.1, CCDS47123.1, CCDS54791.1	4q23-q25	2011-07-08			ENSG00000138795	ENSG00000138795			6551	protein-coding gene	gene with protein product		153245				1783375	Standard	NM_016269		Approved	TCF1ALPHA, TCF10, TCF7L3	uc003hyt.2	Q9UJU2	OTTHUMG00000131809	ENST00000265165.1:c.1057C>T	4.37:g.108991878G>A	ENSP00000265165:p.Arg353Trp		109211327	NM_001166119	B4DG38|B7Z8E2|E9PDK3|Q3ZCU4|Q9HAZ0	Missense_Mutation	SNP	ENST00000265165.1	37	CCDS3679.1	.	.	.	.	.	.	.	.	.	.	G	33	5.280551	0.95489	.	.	ENSG00000138795	ENST00000265165;ENST00000379951;ENST00000438313;ENST00000510624	D;D;D;D	0.98135	-4.74;-4.74;-4.74;-4.74	5.09	5.09	0.68999	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.98966	0.9648	M	0.90369	3.11	0.80722	D	1	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	0.996;0.998;0.999;0.996;1.0;0.998	D	0.99712	1.1007	10	0.87932	D	0	-7.8449	18.8604	0.92270	0.0:0.0:1.0:0.0	.	257;210;257;325;325;353	E9PDK3;B4DZY5;B7Z8E2;Q9UJU2-6;Q9UJU2-5;Q9UJU2	.;.;.;.;.;LEF1_HUMAN	W	353;325;325;257	ENSP00000265165:R353W;ENSP00000369284:R325W;ENSP00000406176:R325W;ENSP00000422840:R257W	ENSP00000265165:R353W	R	-	1	2	LEF1	109211327	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	7.953000	0.87836	2.521000	0.84997	0.591000	0.81541	CGG		0.438	LEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254749.2		
STIM2	57620	hgsc.bcm.edu	37	4	27019551	27019551	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	g.chr4:27019551C>T	ENST00000467011.1	+	11	2133	c.1708C>T	c.(1708-1710)Ctt>Ttt	p.L570F	STIM2_ENST00000382009.3_Missense_Mutation_p.L665F|STIM2_ENST00000412829.2_Missense_Mutation_p.L657F|STIM2_ENST00000467087.1_Missense_Mutation_p.L570F|STIM2_ENST00000465503.1_Missense_Mutation_p.L578F|STIM2_ENST00000237364.5_Missense_Mutation_p.L657F	NM_001169117.1	NP_001162588	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	570					activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|positive regulation of calcium ion transport (GO:0051928)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|store-operated calcium channel activity (GO:0015279)	p.L657F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				TTGCCCTGCGCTTTATCGAAA	0.532																																					p.L570F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1708T	4						.						302.0	288.0	293.0					4																	27019551		2203	4300	6503	26628649	SO:0001583	missense	57620	exon11			AB040915	CCDS3440.1, CCDS3440.2, CCDS54751.1, CCDS54752.1	4p15.2	2013-01-10			ENSG00000109689	ENSG00000109689		"""Sterile alpha motif (SAM) domain containing"""	19205	protein-coding gene	gene with protein product		610841				11463338	Standard	NM_020860		Approved		uc003gsh.4	Q9P246	OTTHUMG00000097805	ENST00000467011.1:c.1708C>T	4.37:g.27019551C>T	ENSP00000419383:p.Leu570Phe		26628649	NM_001169117	A6H8L7|B7ZVY0|Q96BF1|Q9BQH2|Q9H8R1	Missense_Mutation	SNP	ENST00000467011.1	37	CCDS54752.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.838517	0.51057	.	.	ENSG00000109689	ENST00000467087;ENST00000382009;ENST00000237364;ENST00000467011;ENST00000412829;ENST00000465503;ENST00000473519;ENST00000477474	T;T;T;T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.35	5.32	4.48	0.54585	.	0.226719	0.37623	N	0.002014	T	0.47154	0.1430	N	0.14661	0.345	0.38329	D	0.943759	P;P;D;D	0.57571	0.917;0.93;0.966;0.98	P;P;P;P	0.55303	0.502;0.462;0.598;0.773	T	0.56189	-0.8020	10	0.72032	D	0.01	.	10.1529	0.42805	0.0:0.7882:0.1373:0.0744	.	570;657;665;657	Q9P246;A6H8L7;E9PGD0;F5GXJ4	STIM2_HUMAN;.;.;.	F	570;665;657;570;657;578;278;172	ENSP00000419073:L570F;ENSP00000371439:L665F;ENSP00000237364:L657F;ENSP00000419383:L570F;ENSP00000404812:L657F;ENSP00000417569:L578F;ENSP00000420113:L278F;ENSP00000419536:L172F	ENSP00000237364:L657F	L	+	1	0	STIM2	26628649	0.870000	0.30015	0.731000	0.30826	0.979000	0.70002	0.862000	0.27899	1.240000	0.43803	0.460000	0.39030	CTT		0.532	STIM2-003	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000356861.1	NM_020860	
IL2	3558	hgsc.bcm.edu	37	4	123372950	123372950	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	g.chr4:123372950C>A	ENST00000226730.4	-	4	703	c.419G>T	c.(418-420)aGa>aTa	p.R140I		NM_000586.3	NP_000577.2	P60568	IL2_HUMAN	interleukin 2	140					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|immune response (GO:0006955)|natural killer cell activation (GO:0030101)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of heart contraction (GO:0045822)|negative regulation of inflammatory response (GO:0050728)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of T cell homeostatic proliferation (GO:0046013)|T cell differentiation (GO:0030217)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|cytokine activity (GO:0005125)|glycosphingolipid binding (GO:0043208)|growth factor activity (GO:0008083)|interleukin-2 receptor binding (GO:0005134)|kinase activator activity (GO:0019209)	p.R140I(1)		endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13				LUSC - Lung squamous cell carcinoma(721;0.185)	Pseudoephedrine(DB00852)	GGTAATCCATCTGTTCAGAAA	0.303			T	TNFRSF17	intestinal T-cell lymphoma																																p.R140I			Dom	yes		4	4q26-q27	3558	interleukin 2		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G419T	4						.						84.0	80.0	81.0					4																	123372950		2202	4300	6502	123592400	SO:0001583	missense	3558	exon4			U25676	CCDS3726.1	4q26-q27	2011-07-14			ENSG00000109471	ENSG00000109471		"""Interleukins and interleukin receptors"""	6001	protein-coding gene	gene with protein product	"""T cell growth factor"""	147680				3260003	Standard	NM_000586		Approved	IL-2, TCGF	uc003ier.3	P60568	OTTHUMG00000133075	ENST00000226730.4:c.419G>T	4.37:g.123372950C>A	ENSP00000226730:p.Arg140Ile		123592400	NM_000586	P01585	Missense_Mutation	SNP	ENST00000226730.4	37	CCDS3726.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462280	0.43736	.	.	ENSG00000109471	ENST00000226730	.	.	.	5.15	0.258	0.15578	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.376195	0.23149	N	0.051363	T	0.30572	0.0769	L	0.46157	1.445	0.28765	N	0.900704	B	0.24823	0.112	B	0.26202	0.067	T	0.24440	-1.0160	9	0.87932	D	0	-8.456	4.1459	0.10215	0.0:0.3385:0.4204:0.2411	.	140	P60568	IL2_HUMAN	I	140	.	ENSP00000226730:R140I	R	-	2	0	IL2	123592400	0.112000	0.22096	0.960000	0.40013	0.966000	0.64601	0.260000	0.18424	0.148000	0.19059	0.650000	0.86243	AGA		0.303	IL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256715.2		
MXRA5	25878	hgsc.bcm.edu	37	X	3241276	3241276	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	g.chrX:3241276A>G	ENST00000217939.6	-	5	2604	c.2450T>C	c.(2449-2451)gTc>gCc	p.V817A		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	817						extracellular vesicular exosome (GO:0070062)		p.V817A(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGGTGGTGTGACTTCTAGACT	0.473																																					p.V817A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T2450C	X						.						150.0	146.0	147.0					X																	3241276		2203	4300	6503	3251276	SO:0001583	missense	25878	exon5			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.2450T>C	X.37:g.3241276A>G	ENSP00000217939:p.Val817Ala		3251276	NM_015419	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	a	0.910	-0.719349	0.03182	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.61274	0.12	3.63	-7.27	0.01461	.	2.933660	0.01979	N	0.044640	T	0.32852	0.0843	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.19353	-1.0308	10	0.29301	T	0.29	.	7.8306	0.29340	0.1963:0.0:0.575:0.2287	.	817	Q9NR99	MXRA5_HUMAN	A	817	ENSP00000217939:V817A	ENSP00000217939:V817A	V	-	2	0	MXRA5	3251276	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.331000	0.07914	-1.907000	0.01087	-1.376000	0.01182	GTC		0.473	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419	
TENM1	10178	hgsc.bcm.edu	37	X	123787619	123787619	+	Missense_Mutation	SNP	G	G	A	rs374613583		TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	g.chrX:123787619G>A	ENST00000371130.3	-	7	1246	c.1183C>T	c.(1183-1185)Cgg>Tgg	p.R395W	TENM1_ENST00000422452.2_Missense_Mutation_p.R395W	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	395					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R397W(2)									TCTATCGCCCGTCCCTTCTGA	0.383																																					p.R395W												.	.	2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	c.C1183T	X						.	G	TRP/ARG,TRP/ARG,TRP/ARG	1,3834		0,0,1,1632,570	94.0	80.0	85.0		1183,1180,1183	5.6	1.0	X		85	0,6728		0,0,0,2428,1872	no	missense,missense,missense	ODZ1	NM_001163278.1,NM_001163279.1,NM_014253.3	101,101,101	0,0,1,4060,2442	AA,AG,A,GG,G		0.0,0.0261,0.0095	probably-damaging,probably-damaging,probably-damaging	395/2733,394/2732,395/2726	123787619	1,10562	2203	4300	6503	123615300	SO:0001583	missense	10178	exon7			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.1183C>T	X.37:g.123787619G>A	ENSP00000360171:p.Arg395Trp		123615300	NM_014253	B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180030	0.57800	2.61E-4	0.0	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.27720	1.65;1.65	5.6	5.6	0.85130	.	0.072828	0.53938	D	0.000052	T	0.30103	0.0754	L	0.44542	1.39	0.46954	D	0.999262	D;D;D	0.67145	0.996;0.991;0.993	B;B;B	0.43680	0.425;0.425;0.427	T	0.06445	-1.0826	10	0.59425	D	0.04	.	13.6083	0.62061	0.0:0.0:0.8451:0.1549	.	394;395;395	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	W	395	ENSP00000360171:R395W;ENSP00000403954:R395W	ENSP00000360171:R395W	R	-	1	2	ODZ1	123615300	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.314000	0.51943	2.351000	0.79841	0.529000	0.55759	CGG		0.383	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253	
TTN	7273	hgsc.bcm.edu	37	2	179639033	179639033	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	g.chr2:179639033G>A	ENST00000591111.1	-	30	7182	c.6958C>T	c.(6958-6960)Cgt>Tgt	p.R2320C	TTN_ENST00000589042.1_Missense_Mutation_p.R2320C|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.R2320C|TTN_ENST00000342175.6_Missense_Mutation_p.R2274C|TTN_ENST00000342992.6_Missense_Mutation_p.R2320C|TTN_ENST00000359218.5_Missense_Mutation_p.R2274C|TTN_ENST00000460472.2_Missense_Mutation_p.R2274C|TTN-AS1_ENST00000610005.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000584485.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12642	Ig-like 12.				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.R2274C(3)|p.R2320C(2)		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)			AGGTTCTGACGTCCACGACGA	0.408																																					p.R2320C												.	.	5	Substitution - Missense(5)	large_intestine(5)	c.C6958T	2						.						173.0	158.0	163.0					2																	179639033		2203	4300	6503	179347278	SO:0001583	missense	7273	exon30			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.6958C>T	2.37:g.179639033G>A	ENSP00000465570:p.Arg2320Cys		179347278	NM_133379	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		.	.	.	.	.	.	.	.	.	.	G	13.11	2.139235	0.37728	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34	5.6	5.6	0.85130	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76933	0.4057	L	0.35854	1.095	0.43959	D	0.996639	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;1.0	T	0.78605	-0.2139	9	0.87932	D	0	.	19.6137	0.95619	0.0:0.0:1.0:0.0	.	2274;2274;2274;2320;2320	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	C	2320;2274;2274;2274;2274;2320	ENSP00000343764:R2320C;ENSP00000434586:R2274C;ENSP00000340554:R2274C;ENSP00000352154:R2274C;ENSP00000354117:R2320C	ENSP00000340554:R2274C	R	-	1	0	TTN	179347278	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.322000	0.59215	2.650000	0.89964	0.557000	0.71058	CGT		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
SLC11A1	6556	hgsc.bcm.edu	37	2	219257776	219257776	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	g.chr2:219257776G>A	ENST00000233202.6	+	12	1577	c.1237G>A	c.(1237-1239)Gtg>Atg	p.V413M	SLC11A1_ENST00000539932.1_Missense_Mutation_p.V295M	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	413					activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060)	cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821)	manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915)	p.V413M(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTGCCCACCGTGCTCGTGGC	0.657																																					p.V413M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1237A	2						.						85.0	66.0	73.0					2																	219257776		2203	4300	6503	218966020	SO:0001583	missense	6556	exon12			D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280		"""Solute carriers"""	10907	protein-coding gene	gene with protein product	"""natural resistance-associated macrophage protein 1"""	600266		LSH, NRAMP, NRAMP1		7964458, 7980580	Standard	NM_000578		Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.1237G>A	2.37:g.219257776G>A	ENSP00000233202:p.Val413Met		218966020	NM_000578	C0H5Y3	Missense_Mutation	SNP	ENST00000233202.6	37	CCDS2415.1	.	.	.	.	.	.	.	.	.	.	G	2.978	-0.211018	0.06140	.	.	ENSG00000018280	ENST00000233202;ENST00000539932	T;T	0.70631	-0.5;-0.5	4.75	1.66	0.24008	.	0.352008	0.24254	N	0.040141	T	0.59797	0.2220	L	0.37561	1.115	0.25717	N	0.98541	B;B	0.31485	0.325;0.272	B;B	0.37239	0.244;0.165	T	0.49380	-0.8946	10	0.22706	T	0.39	-22.434	11.1037	0.48190	0.0759:0.3546:0.5695:0.0	.	295;413	C0H5Y3;P49279	.;NRAM1_HUMAN	M	413;295	ENSP00000233202:V413M;ENSP00000443435:V295M	ENSP00000233202:V413M	V	+	1	0	SLC11A1	218966020	0.980000	0.34600	0.263000	0.24496	0.008000	0.06430	2.007000	0.40883	0.589000	0.29677	-0.300000	0.09419	GTG		0.657	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195076.2	NM_000578	
DMRT3	58524	hgsc.bcm.edu	37	9	990868	990868	+	Missense_Mutation	SNP	C	C	T	rs141821476	byFrequency	TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	g.chr9:990868C>T	ENST00000190165.2	+	2	1320	c.1282C>T	c.(1282-1284)Cgc>Tgc	p.R428C		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	428					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R428C(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		CCTTCCTGCCCGCGCCACGGA	0.552																																					p.R428C												.	.	2	Substitution - Missense(2)	large_intestine(1)|central_nervous_system(1)	c.C1282T	9						.	C	CYS/ARG	5,4401	9.9+/-24.2	0,5,2198	85.0	72.0	76.0		1282	5.2	0.1	9	dbSNP_134	76	0,8600		0,0,4300	yes	missense	DMRT3	NM_021240.2	180	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	probably-damaging	428/473	990868	5,13001	2203	4300	6503	980868	SO:0001583	missense	58524	exon2			AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"""testis-specific protein"""	614754	"""DMRT-like family A3"""	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.1282C>T	9.37:g.990868C>T	ENSP00000190165:p.Arg428Cys		980868	NM_021240	Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Missense_Mutation	SNP	ENST00000190165.2	37	CCDS6443.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.518218	0.44763	0.001135	0.0	ENSG00000064218	ENST00000190165	T	0.39592	1.07	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.53222	0.1783	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.56044	-0.8044	10	0.87932	D	0	-34.3542	13.7296	0.62779	0.1538:0.8462:0.0:0.0	.	428	Q9NQL9	DMRT3_HUMAN	C	428	ENSP00000190165:R428C	ENSP00000190165:R428C	R	+	1	0	DMRT3	980868	0.998000	0.40836	0.096000	0.21009	0.357000	0.29423	4.120000	0.57897	2.424000	0.82194	0.655000	0.94253	CGC		0.552	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240	
PTPDC1	138639	hgsc.bcm.edu	37	9	96860362	96860362	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	g.chr9:96860362G>A	ENST00000375360.3	+	7	1692	c.1352G>A	c.(1351-1353)aGc>aAc	p.S451N	PTPDC1_ENST00000288976.3_Missense_Mutation_p.S503N	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	451					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.S451N(1)|p.S503N(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						TTGGTTCGCAGCACACTTTCT	0.478																																					p.S503N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1508A	9						.						72.0	63.0	66.0					9																	96860362		2203	4300	6503	95900183	SO:0001583	missense	138639	exon6			BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	30184	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase PTP9Q22"""					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.1352G>A	9.37:g.96860362G>A	ENSP00000364509:p.Ser451Asn		95900183	NM_152422	Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Missense_Mutation	SNP	ENST00000375360.3	37	CCDS6707.1	.	.	.	.	.	.	.	.	.	.	.	0.540	-0.853950	0.02630	.	.	ENSG00000158079	ENST00000375360;ENST00000288976	T;T	0.09163	3.01;3.01	5.91	-1.29	0.09288	.	0.550372	0.22968	N	0.053468	T	0.01940	0.0061	N	0.00335	-1.625	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.08055	0.001;0.003;0.001;0.001	T	0.44065	-0.9352	10	0.02654	T	1	-3.8978	10.7343	0.46115	0.6794:0.0:0.3206:0.0	.	505;503;505;451	E7EN59;A2A3K4-2;A8K0X7;A2A3K4	.;.;.;PTPC1_HUMAN	N	451;503	ENSP00000364509:S451N;ENSP00000288976:S503N	ENSP00000288976:S503N	S	+	2	0	PTPDC1	95900183	0.966000	0.33281	0.000000	0.03702	0.996000	0.88848	0.494000	0.22467	-0.465000	0.06953	0.655000	0.94253	AGC		0.478	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422	
APC	324	hgsc.bcm.edu	37	5	112175235	112175235	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	g.chr5:112175235C>A	ENST00000457016.1	+	16	4324	c.3944C>A	c.(3943-3945)tCa>tAa	p.S1315*	APC_ENST00000257430.4_Nonsense_Mutation_p.S1315*|APC_ENST00000508376.2_Nonsense_Mutation_p.S1315*|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1315	Responsible for down-regulation through a process mediated by direct ubiquitination.|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.S1315*(12)|p.S1315fs*3(2)|p.S1315L(1)|p.?(1)|p.K1192fs*3(1)|p.S1315fs*1(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)		GGAACTAGGTCAGCTGAAGAT	0.443		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.S1297X	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"""	APC,large_intestine,colon,Substitution - Nonsense,0	.	18	Substitution - Nonsense(12)|Insertion - Frameshift(2)|Deletion - Frameshift(2)|Unknown(1)|Substitution - Missense(1)	large_intestine(16)|soft_tissue(1)|skin(1)	c.C3890A	5	GRCh37	CM021066	APC	M		.						59.0	61.0	60.0					5																	112175235		2202	4300	6502	112203134	SO:0001587	stop_gained	324	exon14	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.3944C>A	5.37:g.112175235C>A	ENSP00000413133:p.Ser1315*		112203134	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	36	5.719660	0.96839	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	.	.	.	6.03	6.03	0.97812	.	0.642461	0.16403	N	0.215929	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.6185	20.1672	0.98154	0.0:1.0:0.0:0.0	.	.	.	.	X	1315	.	.	S	+	2	0	APC	112203134	0.319000	0.24607	0.010000	0.14722	0.068000	0.16541	4.424000	0.59868	2.861000	0.98227	0.655000	0.94253	TCA		0.443	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
ADCY2	108	hgsc.bcm.edu	37	5	7706901	7706901	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	g.chr5:7706901G>A	ENST00000338316.4	+	8	1243	c.1154G>A	c.(1153-1155)gGc>gAc	p.G385D	ADCY2_ENST00000537121.1_Missense_Mutation_p.G205D|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	385					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.G385D(2)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ATGCGCGTGGGCGTGCATTCT	0.468																																					p.G385D												.	.	2	Substitution - Missense(2)	large_intestine(1)|prostate(1)	c.G1154A	5						.						290.0	253.0	266.0					5																	7706901		2203	4300	6503	7759901	SO:0001583	missense	108	exon8			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1154G>A	5.37:g.7706901G>A	ENSP00000342952:p.Gly385Asp		7759901	NM_020546	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	28.8	4.955433	0.92726	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	D;D	0.97831	-4.56;-4.56	5.29	5.29	0.74685	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.99396	0.9787	H	0.99197	4.465	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98186	1.0460	10	0.87932	D	0	.	18.964	0.92687	0.0:0.0:1.0:0.0	.	205;385	B7Z2C1;Q08462	.;ADCY2_HUMAN	D	385;236;205	ENSP00000342952:G385D;ENSP00000444803:G205D	ENSP00000342952:G385D	G	+	2	0	ADCY2	7759901	1.000000	0.71417	0.999000	0.59377	0.925000	0.55904	9.588000	0.98232	2.480000	0.83734	0.655000	0.94253	GGC		0.468	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546	
PFDN1	5201	hgsc.bcm.edu	37	5	139680111	139680111	+	Silent	SNP	T	T	G	rs377128367		TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3553-01A-01W-0831-10	TCGA-AA-3553-10A-01W-0831-10	g.chr5:139680111T>G	ENST00000261813.4	-	2	137	c.90A>C	c.(88-90)gcA>gcC	p.A30A	PFDN1_ENST00000514611.1_5'UTR|PFDN1_ENST00000510217.1_Intron|PFDN1_ENST00000524074.1_Silent_p.A30A	NM_002622.4	NP_002613.2	O60925	PFD1_HUMAN	prefoldin subunit 1	30					'de novo' posttranslational protein folding (GO:0051084)|actin cytoskeleton organization (GO:0030036)|B cell activation (GO:0042113)|cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|cerebellum development (GO:0021549)|protein folding (GO:0006457)|regulation of transcription, DNA-templated (GO:0006355)|telencephalon development (GO:0021537)	prefoldin complex (GO:0016272)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A30A(1)		endometrium(2)|large_intestine(3)|prostate(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGTATGTCTGCGAGCTTCA	0.378																																					p.A30A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A90C	5						.						231.0	190.0	204.0					5																	139680111		2203	4300	6503	139660295	SO:0001819	synonymous_variant	5201	exon2			Y17392	CCDS4222.1	5q31	2008-02-05	2006-02-24		ENSG00000113068	ENSG00000113068			8866	protein-coding gene	gene with protein product		604897	"""prefoldin 1"""			9630229	Standard	XM_005268465		Approved	PFD1	uc003lff.1	O60925	OTTHUMG00000129249	ENST00000261813.4:c.90A>C	5.37:g.139680111T>G			139660295	NM_002622	B2RD02|Q53F95|Q96EX6	Silent	SNP	ENST00000261813.4	37	CCDS4222.1																																																																																				0.378	PFDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251354.3	NM_002622	
