#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
RPN2	6185	hgsc.bcm.edu	37	20	35842165	35842165	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	g.chr20:35842165A>G	ENST00000237530.6	+	9	1300	c.989A>G	c.(988-990)gAt>gGt	p.D330G	RPN2_ENST00000373622.5_Missense_Mutation_p.D298G	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	330					aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)|transferase activity, transferring glycosyl groups (GO:0016757)	p.D330G(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				CTTAACAGGGATGTTTTTGAA	0.393																																					p.D330G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A989G	20						.						141.0	127.0	132.0					20																	35842165		2203	4300	6503	35275579	SO:0001583	missense	6185	exon9			Y00282	CCDS13291.1, CCDS46599.1	20q12-q13.1	2013-03-06			ENSG00000118705	ENSG00000118705			10382	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	180490					Standard	NM_002951		Approved	SWP1, RPNII, RIBIIR, RPN-II	uc002xgp.3	P04844	OTTHUMG00000032409	ENST00000237530.6:c.989A>G	20.37:g.35842165A>G	ENSP00000237530:p.Asp330Gly		35275579	NM_002951	Q5JYR6|Q6IBA5|Q96E21|Q9BUQ3|Q9UBE1	Missense_Mutation	SNP	ENST00000237530.6	37	CCDS13291.1	.	.	.	.	.	.	.	.	.	.	A	9.719	1.159077	0.21454	.	.	ENSG00000118705	ENST00000237530;ENST00000373622	T;T	0.43294	0.95;0.95	5.18	5.18	0.71444	.	0.212969	0.48286	D	0.000187	T	0.21674	0.0522	N	0.04203	-0.255	0.38682	D	0.952564	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.002;0.001;0.002	T	0.12372	-1.0550	10	0.22706	T	0.39	-11.0573	13.0372	0.58879	1.0:0.0:0.0:0.0	.	205;298;330;330	A6NKT1;Q5JYR6;P04844;B2RE46	.;.;RPN2_HUMAN;.	G	330;298	ENSP00000237530:D330G;ENSP00000362724:D298G	ENSP00000237530:D330G	D	+	2	0	RPN2	35275579	1.000000	0.71417	0.998000	0.56505	0.901000	0.52897	5.661000	0.68025	2.180000	0.69256	0.455000	0.32223	GAT		0.393	RPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079076.2	NM_002951	
ZMYND8	23613	hgsc.bcm.edu	37	20	45905279	45905279	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	g.chr20:45905279T>A	ENST00000311275.7	-	11	1452	c.1199A>T	c.(1198-1200)aAc>aTc	p.N400I	ZMYND8_ENST00000471951.2_Missense_Mutation_p.N420I|ZMYND8_ENST00000262975.4_Missense_Mutation_p.N400I|ZMYND8_ENST00000355972.4_Missense_Mutation_p.N400I|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000536340.1_Missense_Mutation_p.N427I|ZMYND8_ENST00000540497.1_Missense_Mutation_p.N395I|ZMYND8_ENST00000352431.2_Missense_Mutation_p.N420I|ZMYND8_ENST00000396281.4_Missense_Mutation_p.N400I|ZMYND8_ENST00000372023.3_Missense_Mutation_p.N395I|ZMYND8_ENST00000360911.3_Missense_Mutation_p.N395I|ZMYND8_ENST00000458360.2_Missense_Mutation_p.N395I|ZMYND8_ENST00000461685.1_Missense_Mutation_p.N420I|ZMYND8_ENST00000446994.2_Missense_Mutation_p.N337I	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	400					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)	p.N420I(1)		NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CATGTCAAAGTTGAGCTTGAC	0.587																																					p.N420I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1259T	20						.						154.0	132.0	140.0					20																	45905279		2203	4300	6503	45338686	SO:0001583	missense	23613	exon11			U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.1199A>T	20.37:g.45905279T>A	ENSP00000312237:p.Asn400Ile		45338686	NM_012408	B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.0|21.0	4.087558|4.087558	0.76642|0.76642	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497|ENST00000467200	D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.91686|.	-2.0;-1.88;-1.98;-1.91;-1.9;-1.89;-2.0;-1.9;-1.89;-2.89;-1.91;-1.99;-1.76|.	5.63|5.63	3.39|3.39	0.38822|0.38822	.|.	0.094139|.	0.64402|.	D|.	0.000001|.	T|T	0.57740|0.57740	0.2074|0.2074	L|L	0.51422|0.51422	1.61|1.61	0.41139|0.41139	D|D	0.985946|0.985946	D;P;P;P;D;D;B;P;D;B;P;P;P;P;P;D;P;P|.	0.67145|.	0.983;0.682;0.716;0.716;0.996;0.959;0.214;0.813;0.967;0.127;0.813;0.716;0.716;0.716;0.586;0.963;0.944;0.76|.	P;P;P;P;D;P;B;P;P;B;P;P;P;P;P;P;P;B|.	0.64595|.	0.78;0.625;0.739;0.628;0.927;0.824;0.322;0.795;0.747;0.22;0.795;0.739;0.739;0.628;0.602;0.79;0.563;0.323|.	T|T	0.51537|0.51537	-0.8693|-0.8693	10|5	0.54805|.	T|.	0.06|.	-24.5161|-24.5161	9.7243|9.7243	0.40322|0.40322	0.0:0.1386:0.0:0.8614|0.0:0.1386:0.0:0.8614	.|.	395;427;395;395;375;394;420;400;395;420;420;400;337;395;395;420;395;400|.	B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q5TH11;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8|.	.;.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.|.	I|H	395;400;395;400;420;420;400;427;400;337;420;395;395|326	ENSP00000354166:N395I;ENSP00000312237:N400I;ENSP00000392964:N395I;ENSP00000262975:N400I;ENSP00000420095:N420I;ENSP00000335537:N420I;ENSP00000379577:N400I;ENSP00000439800:N427I;ENSP00000348246:N400I;ENSP00000396725:N337I;ENSP00000418210:N420I;ENSP00000361093:N395I;ENSP00000443086:N395I|.	ENSP00000262975:N400I|.	N|Q	-|-	2|3	0|2	ZMYND8|ZMYND8	45338686|45338686	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.996000|0.996000	0.88848|0.88848	3.324000|3.324000	0.52022|0.52022	0.436000|0.436000	0.26393|0.26393	0.533000|0.533000	0.62120|0.62120	AAC|CAA		0.587	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047	
SULF2	55959	hgsc.bcm.edu	37	20	46294604	46294604	+	Silent	SNP	G	G	A			TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	g.chr20:46294604G>A	ENST00000359930.4	-	13	2750	c.1899C>T	c.(1897-1899)caC>caT	p.H633H	SULF2_ENST00000361612.4_Silent_p.H633H|SULF2_ENST00000484875.1_Silent_p.H633H|SULF2_ENST00000467815.1_Silent_p.H633H	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	633					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)	p.H633H(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CACTCACCTCGTGGTCGATGT	0.622																																					p.H633H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1899T	20						.						183.0	152.0	163.0					20																	46294604		2203	4300	6503	45728011	SO:0001819	synonymous_variant	55959	exon13			AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.1899C>T	20.37:g.46294604G>A			45728011	NM_198596	E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Silent	SNP	ENST00000359930.4	37	CCDS13408.1																																																																																				0.622	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837	
IL17RA	23765	hgsc.bcm.edu	37	22	17581356	17581356	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	g.chr22:17581356A>C	ENST00000319363.6	+	5	668	c.535A>C	c.(535-537)Aat>Cat	p.N179H	IL17RA_ENST00000477874.1_3'UTR	NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	179					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)	p.N179H(1)		endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CCAGTCCAAGAATTTCCTTGT	0.572																																					p.N179H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A535C	22						.						155.0	126.0	136.0					22																	17581356		2203	4300	6503	15961356	SO:0001583	missense	23765	exon5			U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"""Interleukins and interleukin receptors"", ""CD molecules"""	5985	protein-coding gene	gene with protein product		605461	"""interleukin 17 receptor"""	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.535A>C	22.37:g.17581356A>C	ENSP00000320936:p.Asn179His		15961356	NM_014339	O43844|Q20WK1	Missense_Mutation	SNP	ENST00000319363.6	37	CCDS13739.1	.	.	.	.	.	.	.	.	.	.	A	11.34	1.610743	0.28712	.	.	ENSG00000177663	ENST00000425985;ENST00000319363	T	0.00522	6.84	4.91	3.83	0.44106	.	0.793754	0.11633	N	0.544656	T	0.00440	0.0014	L	0.40543	1.245	0.09310	N	1	D;D	0.67145	0.978;0.996	P;P	0.46110	0.504;0.504	T	0.50625	-0.8806	10	0.13108	T	0.6	-21.4598	5.2396	0.15464	0.5651:0.2703:0.0:0.1646	.	179;179	D3YTB4;Q96F46	.;I17RA_HUMAN	H	179	ENSP00000320936:N179H	ENSP00000320936:N179H	N	+	1	0	IL17RA	15961356	0.000000	0.05858	0.006000	0.13384	0.465000	0.32709	0.679000	0.25291	2.073000	0.62155	0.454000	0.30748	AAT		0.572	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339	
THOC5	8563	hgsc.bcm.edu	37	22	29908011	29908011	+	Splice_Site	SNP	C	C	T			TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	g.chr22:29908011C>T	ENST00000490103.1	-	18	1918	c.1796G>A	c.(1795-1797)cGg>cAg	p.R599Q	THOC5_ENST00000397872.1_Splice_Site_p.R599Q|THOC5_ENST00000397873.2_Splice_Site_p.R599Q|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Splice_Site_p.R599Q	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	599					blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)	p.R599Q(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGGTCTTACCCGAATGTTGTC	0.577																																					p.R599Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1796A	22						.						119.0	85.0	96.0					22																	29908011		2203	4300	6503	28238011	SO:0001630	splice_region_variant	8563	exon18			AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"""THO complex subunits"""	19074	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 79"""	612733	"""chromosome 22 open reading frame 19"""	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.1797+1G>A	22.37:g.29908011C>T			28238011	NM_003678	O60839|Q9UPZ5	Missense_Mutation	SNP	ENST00000490103.1	37	CCDS13859.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086923	0.76642	.	.	ENSG00000100296	ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.76	3.64	0.41730	.	0.000000	0.85682	D	0.000000	T	0.48714	0.1515	M	0.77820	2.39	0.58432	D	0.999998	D	0.76494	0.999	P	0.59115	0.852	T	0.48779	-0.9005	10	0.48119	T	0.1	-17.9576	10.6258	0.45506	0.1333:0.7978:0.0:0.0689	.	599	Q13769	THOC5_HUMAN	Q	599	ENSP00000420306:R599Q;ENSP00000380970:R599Q;ENSP00000380969:R599Q;ENSP00000380971:R599Q	ENSP00000380969:R599Q	R	-	2	0	THOC5	28238011	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	5.429000	0.66495	0.868000	0.35678	0.650000	0.86243	CGG		0.577	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	NM_003678	Missense_Mutation
POLR3H	171568	hgsc.bcm.edu	37	22	41928717	41928717	+	Silent	SNP	G	G	A			TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	g.chr22:41928717G>A	ENST00000355209.4	-	3	584	c.241C>T	c.(241-243)Cta>Tta	p.L81L	POLR3H_ENST00000420561.1_5'UTR|POLR3H_ENST00000396504.2_Silent_p.L81L|POLR3H_ENST00000407461.1_Silent_p.L81L|POLR3H_ENST00000337566.5_Intron	NM_001018050.2	NP_001018060.1	Q9Y535	RPC8_HUMAN	polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)	81					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|nucleobase-containing compound metabolic process (GO:0006139)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.L81L(1)		breast(1)|lung(5)|skin(1)|urinary_tract(1)	8						ATCTCATCTAGGAATGGATGA	0.552											OREG0026590	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L81L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C241T	22						.						139.0	121.0	127.0					22																	41928717		2203	4300	6503	40258663	SO:0001819	synonymous_variant	171568	exon4			AB051452	CCDS14018.1, CCDS33651.1	22q13	2013-01-21			ENSG00000100413	ENSG00000100413		"""RNA polymerase subunits"""	30349	protein-coding gene	gene with protein product						11258795, 12391170	Standard	XR_244356		Approved	RPC8, KIAA1665	uc003baf.3	Q9Y535	OTTHUMG00000150971	ENST00000355209.4:c.241C>T	22.37:g.41928717G>A		904	40258663	NM_138338	B0QYH9|Q5M7Y8|Q96AE3|Q9BY95	Silent	SNP	ENST00000355209.4	37	CCDS14018.1																																																																																				0.552	POLR3H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320701.1	NM_138338	
SLC1A6	6511	hgsc.bcm.edu	37	19	15082669	15082669	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	g.chr19:15082669C>A	ENST00000221742.3	-	2	230	c.223G>T	c.(223-225)Gcc>Tcc	p.A75S	SLC1A6_ENST00000598504.1_Missense_Mutation_p.A75S|SLC1A6_ENST00000430939.2_Missense_Mutation_p.C79F|SLC1A6_ENST00000600144.1_Missense_Mutation_p.A75S|SLC1A6_ENST00000544886.2_Missense_Mutation_p.A75S	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	75					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.A75S(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						GGGCGCAGGGCAAAGGCCAGG	0.567																																					p.A75S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G223T	19						.						101.0	94.0	97.0					19																	15082669		2203	4300	6503	14943669	SO:0001583	missense	6511	exon2				CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.223G>T	19.37:g.15082669C>A	ENSP00000221742:p.Ala75Ser		14943669	NM_005071	Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	CCDS12321.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.56|11.56	1.675044|1.675044	0.29783|0.29783	.|.	.|.	ENSG00000105143|ENSG00000105143	ENST00000221742;ENST00000544886;ENST00000542610|ENST00000430939	T;T|T	0.59906|0.74737	0.23;0.23|-0.87	4.26|4.26	2.12|2.12	0.27331|0.27331	.|.	0.331795|.	0.30473|.	N|.	0.009549|.	T|T	0.61515|0.61515	0.2353|0.2353	L|L	0.43757|0.43757	1.38|1.38	0.39567|0.39567	D|D	0.969221|0.969221	B;B;B|B	0.20368|0.02656	0.044;0.01;0.02|0.0	B;B;B|B	0.26864|0.06405	0.074;0.019;0.023|0.002	T|T	0.58075|0.58075	-0.7700|-0.7700	10|9	0.44086|0.87932	T|D	0.13|0	-9.9017|-9.9017	3.6068|3.6068	0.08045|0.08045	0.1964:0.593:0.0:0.2106|0.1964:0.593:0.0:0.2106	.|.	75;76;75|79	Q8N753;Q59GB0;P48664|E7EV13	.;.;EAA4_HUMAN|.	S|F	75;75;76|79	ENSP00000221742:A75S;ENSP00000446175:A75S|ENSP00000409386:C79F	ENSP00000221742:A75S|ENSP00000409386:C79F	A|C	-|-	1|2	0|0	SLC1A6|SLC1A6	14943669|14943669	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.865000|0.865000	0.49528|0.49528	1.442000|1.442000	0.35046|0.35046	0.435000|0.435000	0.26365|0.26365	0.561000|0.561000	0.74099|0.74099	GCC|TGC		0.567	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071	
NLRP7	199713	hgsc.bcm.edu	37	19	55447774	55447774	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	g.chr19:55447774C>T	ENST00000590030.1	-	5	2195	c.2155G>A	c.(2155-2157)Gcg>Acg	p.A719T	NLRP7_ENST00000340844.2_Missense_Mutation_p.A719T|NLRP7_ENST00000446217.1_Missense_Mutation_p.A747T|NLRP7_ENST00000592784.1_Missense_Mutation_p.A719T|NLRP7_ENST00000588756.1_Missense_Mutation_p.A719T|NLRP7_ENST00000448121.2_Missense_Mutation_p.A691T|NLRP7_ENST00000328092.5_Missense_Mutation_p.A691T			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	719							ATP binding (GO:0005524)	p.A691T(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCCCGGTACGCGGTGTCAGGG	0.493																																					p.A691T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2071A	19						.						90.0	78.0	82.0					19																	55447774		2203	4300	6503	60139586	SO:0001583	missense	199713	exon6			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.2155G>A	19.37:g.55447774C>T	ENSP00000465520:p.Ala719Thr		60139586	NM_139176	E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.791967	0.50102	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T	0.53857	0.6;0.6;0.6	2.21	1.17	0.20885	.	0.566406	0.13372	N	0.392815	T	0.48624	0.1510	L	0.60455	1.87	0.09310	N	1	P;P;P;D	0.55385	0.951;0.951;0.951;0.971	B;B;B;P	0.47299	0.406;0.406;0.406;0.543	T	0.38824	-0.9643	10	0.52906	T	0.07	.	4.619	0.12440	0.0:0.8133:0.0:0.1867	.	747;719;719;691	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	T	719;691;719;747;486	ENSP00000409137:A691T;ENSP00000339491:A719T;ENSP00000414273:A747T	ENSP00000329568:A719T	A	-	1	0	NLRP7	60139586	0.023000	0.18921	0.001000	0.08648	0.338000	0.28826	0.850000	0.27737	0.506000	0.28125	0.561000	0.74099	GCG		0.493	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176	
ZFP28	140612	hgsc.bcm.edu	37	19	57066700	57066700	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	g.chr19:57066700C>A	ENST00000301318.3	+	8	2617	c.2546C>A	c.(2545-2547)tCa>tAa	p.S849*	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	849					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S849*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		CCTTCCACGTCAAATCCTGTG	0.458																																					p.S849X	Ovarian(124;554 1662 19430 21141 52494)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2546A	19						.						326.0	317.0	320.0					19																	57066700		2203	4300	6503	61758512	SO:0001587	stop_gained	140612	exon8				CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"""Zinc fingers, C2H2-type"", ""-"""	17801	protein-coding gene	gene with protein product			"""zinc finger protein 28 homolog (mouse)"""				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.2546C>A	19.37:g.57066700C>A	ENSP00000301318:p.Ser849*		61758512	NM_020828	A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Nonsense_Mutation	SNP	ENST00000301318.3	37	CCDS12946.1	.	.	.	.	.	.	.	.	.	.	C	37	6.053620	0.97241	.	.	ENSG00000196867	ENST00000301318	.	.	.	3.94	3.94	0.45596	.	0.670897	0.12410	N	0.471396	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	14.2775	0.66189	0.0:1.0:0.0:0.0	.	.	.	.	X	849	.	ENSP00000301318:S849X	S	+	2	0	ZFP28	61758512	0.000000	0.05858	0.015000	0.15790	0.647000	0.38526	-0.240000	0.08952	2.492000	0.84095	0.655000	0.94253	TCA		0.458	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828	
PNMA2	10687	hgsc.bcm.edu	37	8	26366087	26366087	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	g.chr8:26366087G>A	ENST00000522362.2	-	3	1079	c.185C>T	c.(184-186)gCc>gTc	p.A62V	PNMA2_ENST00000522764.1_5'Flank	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	62					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)		p.A62V(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		gacagcattggcattctcctg	0.502																																					p.A62V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C185T	8						.						77.0	76.0	76.0					8																	26366087		2203	4300	6503	26422004	SO:0001583	missense	10687	exon3				CCDS34868.1	8p21.1	2012-02-09	2012-02-09		ENSG00000240694	ENSG00000240694		"""Paraneoplastic Ma antigens"""	9159	protein-coding gene	gene with protein product		603970	"""paraneoplastic antigen MA2"""			10362822	Standard	NM_007257		Approved	MA2, RGAG2	uc003xez.2	Q9UL42	OTTHUMG00000163816	ENST00000522362.2:c.185C>T	8.37:g.26366087G>A	ENSP00000429344:p.Ala62Val		26422004	NM_007257	B3KNY9|O94959|O95145|Q49A18|Q9UL43	Missense_Mutation	SNP	ENST00000522362.2	37	CCDS34868.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.555598	0.45487	.	.	ENSG00000240694	ENST00000522362	T	0.10288	2.89	3.77	3.77	0.43336	.	.	.	.	.	T	0.08582	0.0213	L	0.31371	0.925	0.26061	N	0.981346	B	0.33826	0.427	B	0.29176	0.099	T	0.15206	-1.0445	9	0.48119	T	0.1	-21.7407	11.3945	0.49834	0.0:0.0:1.0:0.0	.	62	Q9UL42	PNMA2_HUMAN	V	62	ENSP00000429344:A62V	ENSP00000429344:A62V	A	-	2	0	PNMA2	26422004	0.260000	0.24053	0.984000	0.44739	0.824000	0.46624	1.428000	0.34892	2.389000	0.81357	0.563000	0.77884	GCC		0.502	PNMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375709.2	NM_007257	
RB1CC1	9821	hgsc.bcm.edu	37	8	53568950	53568950	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	g.chr8:53568950C>A	ENST00000025008.5	-	15	3962	c.3439G>T	c.(3439-3441)Gaa>Taa	p.E1147*	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Nonsense_Mutation_p.E1147*|RB1CC1_ENST00000539297.1_Nonsense_Mutation_p.E1147*	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1147					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)		p.E1147*(1)		NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				ATATTAGATTCTTCTTCATGT	0.284																																					p.E1147X	GBM(180;1701 2102 13475 42023 52570)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3439T	8						.						49.0	50.0	50.0					8																	53568950		2197	4293	6490	53731503	SO:0001587	stop_gained	9821	exon15			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.3439G>T	8.37:g.53568950C>A	ENSP00000025008:p.Glu1147*		53731503	NM_001083617	Q86YR4|Q8WVU9|Q92601	Nonsense_Mutation	SNP	ENST00000025008.5	37	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	C	45	11.552433	0.99575	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	.	.	.	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-21.1131	18.9627	0.92682	0.0:1.0:0.0:0.0	.	.	.	.	X	1147	.	ENSP00000025008:E1147X	E	-	1	0	RB1CC1	53731503	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	5.432000	0.66514	2.556000	0.86216	0.650000	0.86243	GAA		0.284	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781	
UBR5	51366	hgsc.bcm.edu	37	8	103269876	103269876	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	g.chr8:103269876G>A	ENST00000520539.1	-	58	8777	c.8171C>T	c.(8170-8172)aCa>aTa	p.T2724I	UBR5_ENST00000518205.1_Missense_Mutation_p.T452I|UBR5_ENST00000220959.4_Missense_Mutation_p.T2723I|KB-431C1.5_ENST00000606361.1_RNA|UBR5_ENST00000521922.1_Missense_Mutation_p.T2717I	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2724	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.T2724I(1)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTGTCGTTCTGTCATGCTCAT	0.328																																					p.T2724I	Ovarian(131;96 1741 5634 7352 27489)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8171T	8						.						89.0	82.0	84.0					8																	103269876		2202	4300	6502	103339052	SO:0001583	missense	51366	exon58			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.8171C>T	8.37:g.103269876G>A	ENSP00000429084:p.Thr2724Ile		103339052	NM_015902	B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.285195	0.59867	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000518205;ENST00000521922	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.47	5.47	0.80525	HECT (4);	0.204743	0.39341	N	0.001387	T	0.37046	0.0989	N	0.04297	-0.235	0.80722	D	1	P;P	0.34800	0.469;0.469	P;P	0.48982	0.597;0.597	T	0.33523	-0.9865	10	0.19147	T	0.46	.	19.3216	0.94243	0.0:0.0:1.0:0.0	.	2717;2724	E7EMW7;O95071	.;UBR5_HUMAN	I	2724;2723;452;2717	ENSP00000429084:T2724I;ENSP00000220959:T2723I;ENSP00000428693:T452I;ENSP00000427819:T2717I	ENSP00000220959:T2723I	T	-	2	0	UBR5	103339052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.578000	0.87016	0.585000	0.79938	ACA		0.328	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902	
KCNA3	3738	hgsc.bcm.edu	37	1	111216188	111216188	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	g.chr1:111216188G>A	ENST00000369769.2	-	1	1467	c.1244C>T	c.(1243-1245)gCg>gTg	p.A415V		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	415					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)	p.A415V(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	AAAGTAGACCGCGCTGGAGAA	0.572																																					p.A415V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1244T	1						.						55.0	52.0	53.0					1																	111216188		2203	4300	6503	111017711	SO:0001583	missense	3738	exon1			L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.1244C>T	1.37:g.111216188G>A	ENSP00000358784:p.Ala415Val		111017711	NM_002232	Q5VWN2	Missense_Mutation	SNP	ENST00000369769.2	37	CCDS828.2	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613619	0.87359	.	.	ENSG00000177272	ENST00000369769	D	0.98455	-4.94	5.91	5.91	0.95273	Ion transport (1);	0.000000	0.85682	U	0.000000	D	0.98188	0.9401	L	0.38649	1.16	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.99837	1.1058	10	0.87932	D	0	.	20.2896	0.98541	0.0:0.0:1.0:0.0	.	415	P22001	KCNA3_HUMAN	V	415	ENSP00000358784:A415V	ENSP00000358784:A415V	A	-	2	0	KCNA3	111017711	1.000000	0.71417	0.970000	0.41538	0.993000	0.82548	9.864000	0.99589	2.794000	0.96219	0.655000	0.94253	GCG		0.572	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232	
LMX1A	4009	hgsc.bcm.edu	37	1	165182967	165182967	+	Missense_Mutation	SNP	G	G	A	rs149908681		TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	g.chr1:165182967G>A	ENST00000342310.3	-	5	962	c.580C>T	c.(580-582)Cgc>Tgc	p.R194C	LMX1A_ENST00000367893.4_Missense_Mutation_p.R194C|RP11-38C18.2_ENST00000457106.1_RNA|RP11-38C18.3_ENST00000441773.1_RNA|LMX1A_ENST00000489443.2_5'Flank|LMX1A_ENST00000294816.2_Missense_Mutation_p.R194C	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	194					axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.R194S(1)|p.R194C(1)		NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CGTTTGGGGCGCTTATGGTCC	0.502																																					p.R194C												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C580T	1						.	G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	241.0	218.0	226.0		580,580	5.6	1.0	1	dbSNP_134	226	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LMX1A	NM_001174069.1,NM_177398.3	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	194/383,194/383	165182967	1,13005	2203	4300	6503	163449591	SO:0001583	missense	4009	exon5			AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"""Homeoboxes / LIM class"""	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.580C>T	1.37:g.165182967G>A	ENSP00000340226:p.Arg194Cys		163449591	NM_177398	B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	Missense_Mutation	SNP	ENST00000342310.3	37	CCDS1247.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.311206	0.81358	0.0	1.16E-4	ENSG00000162761	ENST00000342310;ENST00000294816;ENST00000367893	D;D;D	0.96073	-3.9;-3.9;-3.9	5.64	5.64	0.86602	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96738	0.8935	L	0.52011	1.625	0.53005	D	0.999965	D	0.89917	1.0	D	0.87578	0.998	D	0.97128	0.9816	9	0.72032	D	0.01	.	19.3003	0.94141	0.0:0.0:1.0:0.0	.	194	Q8TE12	LMX1A_HUMAN	C	194	ENSP00000340226:R194C;ENSP00000294816:R194C;ENSP00000356868:R194C	ENSP00000294816:R194C	R	-	1	0	LMX1A	163449591	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.781000	0.55394	2.637000	0.89404	0.650000	0.86243	CGC		0.502	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083668.2	NM_177398	
HMCN1	83872	hgsc.bcm.edu	37	1	186060043	186060043	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	g.chr1:186060043G>T	ENST00000271588.4	+	64	10110	c.9881G>T	c.(9880-9882)aGa>aTa	p.R3294I	HMCN1_ENST00000367492.2_Missense_Mutation_p.R3294I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3294	Ig-like C2-type 31.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.R3294I(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAAACAGAAAGAATCCGGTAT	0.353																																					p.R3294I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G9881T	1						.						72.0	72.0	72.0					1																	186060043		2203	4299	6502	184326666	SO:0001583	missense	83872	exon64			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.9881G>T	1.37:g.186060043G>T	ENSP00000271588:p.Arg3294Ile		184326666	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444918	0.63178	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68624	-0.34;-0.34	5.98	4.12	0.48240	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.221097	0.52532	D	0.000062	T	0.77883	0.4197	M	0.80508	2.5	0.45194	D	0.998205	D	0.60575	0.988	P	0.57846	0.828	T	0.78638	-0.2126	10	0.48119	T	0.1	.	12.3322	0.55046	0.1354:0.0:0.8646:0.0	.	3294	Q96RW7	HMCN1_HUMAN	I	3294	ENSP00000271588:R3294I;ENSP00000356462:R3294I	ENSP00000271588:R3294I	R	+	2	0	HMCN1	184326666	1.000000	0.71417	0.985000	0.45067	0.767000	0.43475	1.956000	0.40382	0.867000	0.35654	0.591000	0.81541	AGA		0.353	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
TAS1R2	80834	hgsc.bcm.edu	37	1	19181156	19181156	+	Missense_Mutation	SNP	G	G	A	rs138972387		TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	g.chr1:19181156G>A	ENST00000375371.3	-	3	829	c.808C>T	c.(808-810)Cgc>Tgc	p.R270C	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	270					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.R270C(2)|p.R270G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	ACCACGACGCGCGCTGTGCTC	0.627																																					p.R270C												.	.	3	Substitution - Missense(3)	large_intestine(2)|lung(1)	c.C808T	1						.	G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	70.0	60.0	64.0		808	4.0	0.3	1	dbSNP_134	64	0,8600		0,0,4300	no	missense	TAS1R2	NM_152232.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	270/840	19181156	1,13005	2203	4300	6503	19053743	SO:0001583	missense	80834	exon3				CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.808C>T	1.37:g.19181156G>A	ENSP00000364520:p.Arg270Cys		19053743	NM_152232	Q5TZ19	Missense_Mutation	SNP	ENST00000375371.3	37	CCDS187.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.725061	0.48833	2.27E-4	0.0	ENSG00000179002	ENST00000375371	D	0.87256	-2.23	4.99	4.01	0.46588	Extracellular ligand-binding receptor (1);	0.613341	0.14245	N	0.331801	D	0.92244	0.7540	M	0.78344	2.41	0.22851	N	0.998653	D	0.89917	1.0	D	0.72982	0.979	D	0.83619	0.0138	10	0.87932	D	0	.	9.9288	0.41510	0.0:0.0:0.7021:0.2979	.	270	Q8TE23	TS1R2_HUMAN	C	270	ENSP00000364520:R270C	ENSP00000364520:R270C	R	-	1	0	TAS1R2	19053743	0.850000	0.29656	0.335000	0.25508	0.266000	0.26442	4.417000	0.59822	2.607000	0.88179	0.561000	0.74099	CGC		0.627	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1		
WDR63	126820	hgsc.bcm.edu	37	1	85583461	85583461	+	Silent	SNP	G	G	A			TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	g.chr1:85583461G>A	ENST00000294664.6	+	17	2016	c.1836G>A	c.(1834-1836)ccG>ccA	p.P612P	WDR63_ENST00000370596.1_Silent_p.P573P|WDR63_ENST00000326813.8_Silent_p.P573P	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	612								p.P612P(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		AAATGAACCCGTATCATAATC	0.408																																					p.P612P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1836A	1						.						110.0	109.0	109.0					1																	85583461		2203	4300	6503	85356049	SO:0001819	synonymous_variant	126820	exon17				CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"""WD repeat domain containing"""	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.1836G>A	1.37:g.85583461G>A			85356049	NM_145172	A8K988|Q96L72|Q96NU4	Silent	SNP	ENST00000294664.6	37	CCDS702.1																																																																																				0.408	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172	
KDM5B	10765	hgsc.bcm.edu	37	1	202742358	202742358	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	g.chr1:202742358A>T	ENST00000367265.3	-	4	1628	c.464T>A	c.(463-465)aTt>aAt	p.I155N	KDM5B_ENST00000367264.2_Missense_Mutation_p.I155N	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	155	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.I155N(1)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CTTGGTAGCAATTTTGGTCCA	0.413																																					p.I155N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T464A	1						.						152.0	134.0	140.0					1																	202742358		2203	4300	6503	201008981	SO:0001583	missense	10765	exon4			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.464T>A	1.37:g.202742358A>T	ENSP00000356234:p.Ile155Asn		201008981	NM_006618	O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	A	32	5.134973	0.94517	.	.	ENSG00000117139	ENST00000367265;ENST00000367264	T;T	0.70516	-0.49;-0.49	5.95	5.95	0.96441	ARID/BRIGHT DNA-binding domain (5);	0.000000	0.85682	D	0.000000	D	0.86810	0.6022	M	0.88377	2.95	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.996	D	0.89198	0.3555	10	0.87932	D	0	-22.6901	16.4069	0.83677	1.0:0.0:0.0:0.0	.	155;155	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	N	155	ENSP00000356234:I155N;ENSP00000356233:I155N	ENSP00000356233:I155N	I	-	2	0	KDM5B	201008981	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.339000	0.96797	2.272000	0.75746	0.460000	0.39030	ATT		0.413	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618	
PPP6R3	55291	hgsc.bcm.edu	37	11	68343449	68343449	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	g.chr11:68343449C>T	ENST00000393800.2	+	14	1737	c.1483C>T	c.(1483-1485)Cga>Tga	p.R495*	PPP6R3_ENST00000529710.1_Nonsense_Mutation_p.R444*|PPP6R3_ENST00000534534.1_Nonsense_Mutation_p.R263*|PPP6R3_ENST00000265636.5_Nonsense_Mutation_p.R444*|PPP6R3_ENST00000265637.4_Nonsense_Mutation_p.R495*|PPP6R3_ENST00000393799.2_Nonsense_Mutation_p.R495*|PPP6R3_ENST00000524904.1_Nonsense_Mutation_p.R495*|PPP6R3_ENST00000393801.3_Nonsense_Mutation_p.R495*|PPP6R3_ENST00000524845.1_Nonsense_Mutation_p.R495*|PPP6R3_ENST00000527403.2_Nonsense_Mutation_p.R495*	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	495					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)	p.R444*(1)|p.R495*(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGTCAGGGAACGATGGGAGAC	0.413																																					p.R444X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1330T	11						.						142.0	135.0	137.0					11																	68343449		2200	4294	6494	68100025	SO:0001587	stop_gained	55291	exon14			AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	1173	protein-coding gene	gene with protein product	"""sporulation-induced transcript 4-associated protein"""	610879	"""chromosome 11 open reading frame 23"", ""SAPS domain family, member 3"""	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.1483C>T	11.37:g.68343449C>T	ENSP00000377389:p.Arg495*		68100025	NM_001164164	Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Nonsense_Mutation	SNP	ENST00000393800.2	37	CCDS53672.1	.	.	.	.	.	.	.	.	.	.	C	40	8.261745	0.98732	.	.	ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000534534;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000534190	.	.	.	5.89	5.89	0.94794	.	0.195950	0.42172	D	0.000742	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1151	0.65149	0.15:0.85:0.0:0.0	.	.	.	.	X	495;495;263;495;495;495;495;444;444;495;231	.	ENSP00000265636:R444X	R	+	1	2	PPP6R3	68100025	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.839000	0.48207	2.763000	0.94921	0.655000	0.94253	CGA		0.413	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312	
DDIAS	220042	hgsc.bcm.edu	37	11	82642968	82642969	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	CT	CT	CT	-	CT	CT	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	g.chr11:82642968_82642969delCT	ENST00000533655.1	+	6	800_801	c.588_589delCT	c.(586-591)gactctfs	p.S197fs	C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000329143.3_5'UTR|C11orf82_ENST00000533750.1_3'UTR|C11orf82_ENST00000525388.1_3'UTR|C11orf82_ENST00000430323.2_Frame_Shift_Del_p.S197fs	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		197					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Q198fs*3(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						TTCAGTGTGACTCTCAGGCACC	0.401																																					p.196_197del												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.588_589del	11						.																																			82320617	SO:0001589	frameshift_variant	220042	exon6																														ENST00000533655.1:c.588_589delCT	11.37:g.82642970_82642971delCT	ENSP00000435421:p.Ser197fs		82320616	NM_145018	Q96LK6|Q9H856	Frame_Shift_Del	DEL	ENST00000533655.1	37	CCDS8263.1																																																																																				0.401	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1		
ETS1	2113	hgsc.bcm.edu	37	11	128350208	128350208	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	g.chr11:128350208T>C	ENST00000319397.6	-	6	1178	c.869A>G	c.(868-870)gAc>gGc	p.D290G	ETS1_ENST00000535549.1_Missense_Mutation_p.D74G|ETS1_ENST00000345075.4_Intron|ETS1_ENST00000392668.4_Missense_Mutation_p.D334G|ETS1_ENST00000526145.2_Intron|ETS1_ENST00000531611.1_Intron	NM_005238.3	NP_005229.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	290					angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.D290G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		AGCCGGATAGTCCTCTGAGTC	0.562																																					p.D290G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A869G	11						.						130.0	113.0	119.0					11																	128350208		2201	4297	6498	127855418	SO:0001583	missense	2113	exon6				CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"""Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1"", ""ets protein"""	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000319397.6:c.869A>G	11.37:g.128350208T>C	ENSP00000324578:p.Asp290Gly		127855418	NM_005238	A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Missense_Mutation	SNP	ENST00000319397.6	37	CCDS8475.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.386784	0.82902	.	.	ENSG00000134954	ENST00000535549;ENST00000392668;ENST00000319397	T;T;T	0.18016	2.24;2.63;2.65	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.19127	0.0459	M	0.64404	1.975	0.80722	D	1	P;B;P	0.52842	0.849;0.015;0.956	B;B;B	0.38500	0.239;0.023;0.275	T	0.04103	-1.0977	10	0.36615	T	0.2	.	15.2691	0.73686	0.0:0.0:0.0:1.0	.	290;74;334	P14921;F5GYX9;Q6N087	ETS1_HUMAN;.;.	G	74;334;290	ENSP00000441430:D74G;ENSP00000376436:D334G;ENSP00000324578:D290G	ENSP00000324578:D290G	D	-	2	0	ETS1	127855418	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.670000	0.83925	1.991000	0.58162	0.528000	0.53228	GAC		0.562	ETS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386269.2	NM_005238	
GRIK2	2898	hgsc.bcm.edu	37	6	102247631	102247631	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	g.chr6:102247631C>T	ENST00000421544.1	+	7	1550	c.1060C>T	c.(1060-1062)Cgc>Tgc	p.R354C	GRIK2_ENST00000413795.1_Missense_Mutation_p.R354C|GRIK2_ENST00000369137.3_Missense_Mutation_p.R354C|GRIK2_ENST00000369138.1_Missense_Mutation_p.R354C|GRIK2_ENST00000369134.4_Missense_Mutation_p.R305C|GRIK2_ENST00000318991.6_Missense_Mutation_p.R354C	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	354					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|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)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.R354C(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TAAACCCTGGCGCTTCGGGAC	0.443																																					p.R354C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1060T	6						.						139.0	126.0	130.0					6																	102247631		2203	4300	6503	102354324	SO:0001583	missense	2898	exon7				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.1060C>T	6.37:g.102247631C>T	ENSP00000397026:p.Arg354Cys		102354324	NM_021956	A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.443241	0.83993	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076;ENST00000455610	D;D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	5.3	5.3	0.74995	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.86707	0.5997	M	0.69823	2.125	0.58432	D	0.999998	D;D;D	0.67145	0.988;0.996;0.988	P;P;P	0.61328	0.75;0.887;0.67	D	0.88102	0.2820	10	0.66056	D	0.02	.	13.8595	0.63550	0.1528:0.8472:0.0:0.0	.	354;354;354	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	C	354;354;354;354;354;354;305;316;67	ENSP00000397026:R354C;ENSP00000405596:R354C;ENSP00000358134:R354C;ENSP00000358133:R354C;ENSP00000313276:R354C;ENSP00000358130:R305C;ENSP00000391988:R67C	ENSP00000313276:R354C	R	+	1	0	GRIK2	102354324	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.508000	0.60441	2.464000	0.83262	0.655000	0.94253	CGC		0.443	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1		
HEY2	23493	hgsc.bcm.edu	37	6	126073169	126073169	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	g.chr6:126073169G>A	ENST00000368364.3	+	3	376	c.179G>A	c.(178-180)cGt>cAt	p.R60H	RP11-624M8.1_ENST00000432121.1_RNA|HEY2_ENST00000368365.1_Missense_Mutation_p.R14H|RP11-624M8.1_ENST00000451660.2_RNA|RP11-624M8.1_ENST00000606001.1_RNA	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	60	Transcriptional repression and interaction with NCOR1 and SIN3A. {ECO:0000250}.|bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|ascending aorta morphogenesis (GO:0035910)|atrial septum morphogenesis (GO:0060413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate commitment (GO:0045165)|cochlea development (GO:0090102)|coronary vasculature morphogenesis (GO:0060977)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|mesenchymal cell development (GO:0014031)|muscular septum morphogenesis (GO:0003150)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cardiac vascular smooth muscle cell differentiation (GO:2000723)|negative regulation of gene expression (GO:0010629)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of heart rate (GO:0010460)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of auditory receptor cell differentiation (GO:0045607)|regulation of vasculogenesis (GO:2001212)|smooth muscle cell differentiation (GO:0051145)|tricuspid valve formation (GO:0003195)|tricuspid valve morphogenesis (GO:0003186)|umbilical cord morphogenesis (GO:0036304)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	histone deacetylase binding (GO:0042826)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.R60H(1)		breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		GAGAAAAGGCGTCGGGATCGG	0.363																																					p.R60H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G179A	6						.						76.0	86.0	82.0					6																	126073169		2203	4300	6503	126114862	SO:0001583	missense	23493	exon3			AJ249545	CCDS5131.1	6q	2013-10-17	2013-10-17		ENSG00000135547	ENSG00000135547		"""Basic helix-loop-helix proteins"""	4881	protein-coding gene	gene with protein product		604674	"""hairy/enhancer-of-split related with YRPW motif 2"""			10415358	Standard	NM_012259		Approved	bHLHb32, HERP1, HESR2	uc003qad.3	Q9UBP5	OTTHUMG00000015512	ENST00000368364.3:c.179G>A	6.37:g.126073169G>A	ENSP00000357348:p.Arg60His		126114862	NM_012259		Missense_Mutation	SNP	ENST00000368364.3	37	CCDS5131.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032397	0.75504	.	.	ENSG00000135547	ENST00000368365;ENST00000368364	D;D	0.99722	-6.53;-6.53	5.77	4.9	0.64082	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99327	0.9764	H	0.94847	3.59	0.80722	D	1	B	0.22346	0.068	B	0.23852	0.049	D	0.99900	1.1160	10	0.87932	D	0	-7.4102	14.9208	0.70835	0.0687:0.0:0.9313:0.0	.	60	Q9UBP5	HEY2_HUMAN	H	14;60	ENSP00000357349:R14H;ENSP00000357348:R60H	ENSP00000357348:R60H	R	+	2	0	HEY2	126114862	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.476000	0.97823	1.448000	0.47680	0.467000	0.42956	CGT		0.363	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042077.1		
TXNDC5	81567	hgsc.bcm.edu	37	6	7904855	7904855	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	g.chr6:7904855G>A	ENST00000379757.4	-	2	402	c.365C>T	c.(364-366)aCg>aTg	p.T122M	TXNDC5_ENST00000539054.1_Missense_Mutation_p.T50M|BLOC1S5-TXNDC5_ENST00000439343.2_3'UTR|TXNDC5_ENST00000473453.1_Missense_Mutation_p.T14M	NM_030810.3	NP_110437.2	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 (endoplasmic reticulum)	122	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	protein disulfide isomerase activity (GO:0003756)	p.T122M(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					GGAGTGGGCCGTGCAGTCCAC	0.577																																					p.T122M	Ovarian(119;1430 1625 3928 26125 34589)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C365T	6						.						179.0	133.0	149.0					6																	7904855		2203	4300	6503	7849854	SO:0001583	missense	81567	exon2			AK025006	CCDS4505.1, CCDS47369.1	6p24.3	2011-10-19	2009-02-23		ENSG00000239264	ENSG00000239264		"""Protein disulfide isomerases"""	21073	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 15"""		"""thioredoxin domain containing 5"""				Standard	NM_001145549		Approved	MGC3178, FLJ21353, FLJ90810, EndoPDI, Hcc-2, ERp46, PDIA15	uc003mxv.3	Q8NBS9	OTTHUMG00000014216	ENST00000379757.4:c.365C>T	6.37:g.7904855G>A	ENSP00000369081:p.Thr122Met		7849854	NM_030810	B2RDM2|Q5TCQ0|Q8ND33|Q8TCT2|Q9BVH9	Missense_Mutation	SNP	ENST00000379757.4	37	CCDS4505.1	.	.	.	.	.	.	.	.	.	.	.	17.47	3.397491	0.62177	.	.	ENSG00000239264	ENST00000539054;ENST00000379757;ENST00000473453	T;T;T	0.45276	0.9;0.9;0.9	4.99	4.99	0.66335	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.113958	0.64402	D	0.000014	T	0.72104	0.3419	H	0.96015	3.755	0.51482	D	0.999927	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.988	T	0.82651	-0.0352	10	0.87932	D	0	.	17.0573	0.86537	0.0:0.0:1.0:0.0	.	50;122	Q86UY0;Q8NBS9	.;TXND5_HUMAN	M	50;122;14	ENSP00000442453:T50M;ENSP00000369081:T122M;ENSP00000420784:T14M	ENSP00000442453:T50M	T	-	2	0	TXNDC5	7849854	1.000000	0.71417	0.991000	0.47740	0.444000	0.32077	6.685000	0.74543	2.285000	0.76669	0.558000	0.71614	ACG		0.577	TXNDC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039792.1	NM_030810	
TMEM63B	55362	hgsc.bcm.edu	37	6	44120356	44120356	+	Silent	SNP	C	C	T	rs145799677		TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	g.chr6:44120356C>T	ENST00000259746.9	+	20	2046	c.1863C>T	c.(1861-1863)ggC>ggT	p.G621G	TMEM63B_ENST00000323267.6_Silent_p.G621G			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	621					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)	p.G621G(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			TCCAGTTTGGCGCAGCCTACG	0.652											OREG0017465	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G621G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1863T	6						.	C		0,4406		0,0,2203	183.0	136.0	152.0		1863	4.6	1.0	6	dbSNP_134	152	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TMEM63B	NM_018426.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		621/833	44120356	1,13005	2203	4300	6503	44228334	SO:0001819	synonymous_variant	55362	exon20			BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 110"""	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.1863C>T	6.37:g.44120356C>T		921	44228334	NM_018426	B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Silent	SNP	ENST00000259746.9	37	CCDS34461.1	.	.	.	.	.	.	.	.	.	.	C	9.616	1.132571	0.21041	0.0	1.16E-4	ENSG00000137216	ENST00000371893	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	T	0.46288	0.1385	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46693	-0.9173	4	.	.	.	.	8.043	0.30532	0.1663:0.6483:0.1854:0.0	.	.	.	.	V	550	.	.	A	+	2	0	TMEM63B	44228334	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	0.365000	0.20348	2.424000	0.82194	0.462000	0.41574	GCG		0.652	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040712.2	XM_166410	
ARID1B	57492	hgsc.bcm.edu	37	6	157528657	157528657	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	g.chr6:157528657C>T	ENST00000350026.5	+	19	6344	c.6343C>T	c.(6343-6345)Cga>Tga	p.R2115*	ARID1B_ENST00000346085.5_Nonsense_Mutation_p.R2128*|ARID1B_ENST00000275248.4_Nonsense_Mutation_p.R2110*|ARID1B_ENST00000367148.1_Nonsense_Mutation_p.R2168*	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2115					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.R2110*(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CCCAGTCTGTCGAGAAATGTC	0.478																																					p.R2115X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C6343T	6						.						183.0	190.0	188.0					6																	157528657		2203	4296	6499	157570349	SO:0001587	stop_gained	57492	exon19			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.6343C>T	6.37:g.157528657C>T	ENSP00000055163:p.Arg2115*		157570349	NM_017519	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Nonsense_Mutation	SNP	ENST00000350026.5	37	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	46	12.170940	0.99643	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.2386	0.93873	0.0:1.0:0.0:0.0	.	.	.	.	X	2128;2115;2168;2110;1637	.	ENSP00000275248:R2110X	R	+	1	2	ARID1B	157570349	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.809000	0.62591	2.607000	0.88179	0.655000	0.94253	CGA		0.478	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732	
TP53	7157	hgsc.bcm.edu	37	17	7578268	7578268	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	g.chr17:7578268A>T	ENST00000269305.4	-	6	770	c.581T>A	c.(580-582)cTt>cAt	p.L194H	TP53_ENST00000445888.2_Missense_Mutation_p.L194H|TP53_ENST00000413465.2_Missense_Mutation_p.L194H|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.L194H|TP53_ENST00000420246.2_Missense_Mutation_p.L194H|TP53_ENST00000359597.4_Missense_Mutation_p.L194H	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	194	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763}.|L -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.L194R(47)|p.L194P(8)|p.L194H(8)|p.0?(8)|p.?(6)|p.L101R(5)|p.L62R(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.L194fs*15(1)|p.L194fs*14(1)|p.L101H(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.L62H(1)|p.I195fs*52(1)|p.H193_I195>AP(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)	CACTCGGATAAGATGCTGAGG	0.552		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.L194H	Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	TP53,breast,NS,Substitution - Missense,-1	.	108	Substitution - Missense(75)|Whole gene deletion(8)|Deletion - Frameshift(6)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Insertion - Frameshift(1)|Complex - frameshift(1)	breast(19)|lung(14)|ovary(14)|large_intestine(11)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(6)|oesophagus(6)|biliary_tract(5)|skin(5)|bone(4)|upper_aerodigestive_tract(3)|stomach(3)|central_nervous_system(2)|pancreas(2)|liver(2)|soft_tissue(1)|prostate(1)	c.T581A	17						.						97.0	87.0	90.0					17																	7578268		2203	4300	6503	7518993	SO:0001583	missense	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.581T>A	17.37:g.7578268A>T	ENSP00000269305:p.Leu194His		7518993	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	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	16.31	3.086635	0.55861	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99857	-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99869	0.9938	M	0.90425	3.115	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.994;1.0;1.0;1.0;1.0	D	0.96375	0.9277	10	0.87932	D	0	-29.6709	13.709	0.62656	1.0:0.0:0.0:0.0	.	155;194;194;101;194;194;194	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	194;194;194;194;194;194;183;101;62;101;62	ENSP00000410739:L194H;ENSP00000352610:L194H;ENSP00000269305:L194H;ENSP00000398846:L194H;ENSP00000391127:L194H;ENSP00000391478:L194H;ENSP00000425104:L62H;ENSP00000423862:L101H	ENSP00000269305:L194H	L	-	2	0	TP53	7518993	1.000000	0.71417	0.300000	0.25030	0.031000	0.12232	9.287000	0.95975	2.183000	0.69458	0.533000	0.62120	CTT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
CD300E	342510	hgsc.bcm.edu	37	17	72613483	72613483	+	Silent	SNP	G	G	A	rs111412583	byFrequency	TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	g.chr17:72613483G>A	ENST00000328630.3	-	2	202	c.162C>T	c.(160-162)taC>taT	p.Y54Y	CD300E_ENST00000392619.1_Silent_p.Y81Y|CD300E_ENST00000426295.2_Silent_p.Y95Y			Q496F6	CLM2_HUMAN	CD300e molecule	54	Ig-like V-type.				innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Y54Y(1)		breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						ATGACGTGTCGTACTGTCCTC	0.562																																					p.Y54Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C162T	17						.	G		2,4404	4.2+/-10.8	0,2,2201	220.0	140.0	167.0		162	-4.5	0.0	17	dbSNP_132	167	0,8600		0,0,4300	no	coding-synonymous	CD300E	NM_181449.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		54/206	72613483	2,13004	2203	4300	6503	70125078	SO:0001819	synonymous_variant	342510	exon2			BX648376	CCDS11702.1	17q25.1	2013-01-11	2006-03-28	2006-02-22	ENSG00000186407	ENSG00000186407		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	28874	protein-coding gene	gene with protein product		609801	"""CD300 antigen like family member E"", ""CD300e antigen"""	CD300LE		15549731, 15557162	Standard	NM_181449		Approved	IREM2, CLM2	uc002jlb.2	Q496F6	OTTHUMG00000067605	ENST00000328630.3:c.162C>T	17.37:g.72613483G>A			70125078	NM_181449	B4DNS1|Q7Z7I3	Silent	SNP	ENST00000328630.3	37	CCDS11702.1																																																																																				0.562	CD300E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181449	
SLC38A7	55238	hgsc.bcm.edu	37	16	58701370	58701370	+	Silent	SNP	G	G	A	rs374997624		TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	g.chr16:58701370G>A	ENST00000570101.1	-	11	2191	c.1308C>T	c.(1306-1308)taC>taT	p.Y436Y	SLC38A7_ENST00000564100.1_Missense_Mutation_p.T302M|SLC38A7_ENST00000219320.4_Silent_p.Y436Y|SLC38A7_ENST00000566953.1_5'UTR|SLC38A7_ENST00000564010.1_Silent_p.Y347Y			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	436					sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	L-alanine transmembrane transporter activity (GO:0015180)|L-amino acid transmembrane transporter activity (GO:0015179)|L-asparagine transmembrane transporter activity (GO:0015182)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|L-glutamine transmembrane transporter activity (GO:0015186)|L-histidine transmembrane transporter activity (GO:0005290)|L-leucine transmembrane transporter activity (GO:0015190)|L-methionine transmembrane transporter activity (GO:0015191)|L-serine transmembrane transporter activity (GO:0015194)	p.Y436Y(1)		endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						AGAGGACTCCGTAGCTGACCA	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		20896	0.0		0.0	False		,,,				2504	0.001				p.Y436Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1308T	16						.	G		0,4396		0,0,2198	112.0	95.0	101.0		1308	-4.6	0.9	16		101	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC38A7	NM_018231.1		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		436/463	58701370	1,12995	2198	4300	6498	57258871	SO:0001819	synonymous_variant	55238	exon12			BC001961	CCDS10800.1	16q21	2013-05-22			ENSG00000103042	ENSG00000103042		"""Solute carriers"""	25582	protein-coding gene	gene with protein product		614236					Standard	XM_006721229		Approved	FLJ10815	uc002eod.1	Q9NVC3	OTTHUMG00000133491	ENST00000570101.1:c.1308C>T	16.37:g.58701370G>A			57258871	NM_018231	Q53GJ9|Q9H9I5	Silent	SNP	ENST00000570101.1	37	CCDS10800.1																																																																																				0.522	SLC38A7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422206.2	NM_018231	
CDH8	1006	hgsc.bcm.edu	37	16	61689467	61689467	+	Missense_Mutation	SNP	C	C	T	rs146415895		TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	g.chr16:61689467C>T	ENST00000577390.1	-	11	2767	c.1813G>A	c.(1813-1815)Gtc>Atc	p.V605I	CDH8_ENST00000299345.6_Missense_Mutation_p.V605I|CDH8_ENST00000577730.1_Missense_Mutation_p.V605I	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	605	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.V605I(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CAAGACTGGACGACACCGTCA	0.453																																					p.V605I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1813A	16						.	C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	153.0	127.0	136.0		1813	5.5	1.0	16	dbSNP_134	136	0,8600		0,0,4300	no	missense	CDH8	NM_001796.4	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	605/800	61689467	1,13005	2203	4300	6503	60246968	SO:0001583	missense	1006	exon11			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1813G>A	16.37:g.61689467C>T	ENSP00000462701:p.Val605Ile		60246968	NM_001796	B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.299669	0.40694	2.27E-4	0.0	ENSG00000150394	ENST00000299345	T	0.54866	0.55	5.52	5.52	0.82312	Cadherin (1);	0.000000	0.85682	D	0.000000	T	0.41190	0.1148	L	0.36672	1.1	0.80722	D	1	P	0.39576	0.679	B	0.34038	0.174	T	0.28299	-1.0048	10	0.12430	T	0.62	.	18.4201	0.90587	0.0:1.0:0.0:0.0	.	605	P55286	CADH8_HUMAN	I	605	ENSP00000299345:V605I	ENSP00000299345:V605I	V	-	1	0	CDH8	60246968	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.934000	0.48956	2.599000	0.87857	0.561000	0.74099	GTC		0.453	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796	
CDH2	1000	hgsc.bcm.edu	37	18	25572642	25572642	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	g.chr18:25572642C>A	ENST00000269141.3	-	9	1744	c.1321G>T	c.(1321-1323)Gac>Tac	p.D441Y	CDH2_ENST00000399380.3_Missense_Mutation_p.D410Y	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	441	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.D441Y(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ACTAACCCGTCGTTGCTGTTT	0.527																																					p.D441Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1321T	18						.						173.0	143.0	153.0					18																	25572642		2203	4300	6503	23826640	SO:0001583	missense	1000	exon9			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1321G>T	18.37:g.25572642C>A	ENSP00000269141:p.Asp441Tyr		23826640	NM_001792	A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.185520	0.78677	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.61627	0.09;0.09	5.39	5.39	0.77823	Cadherin (5);Cadherin-like (1);	0.047096	0.85682	D	0.000000	T	0.74397	0.3711	L	0.60067	1.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.992	T	0.76055	-0.3099	10	0.87932	D	0	.	19.5228	0.95192	0.0:1.0:0.0:0.0	.	410;441	A8MWK3;P19022	.;CADH2_HUMAN	Y	441;410	ENSP00000269141:D441Y;ENSP00000382312:D410Y	ENSP00000269141:D441Y	D	-	1	0	CDH2	23826640	1.000000	0.71417	0.979000	0.43373	0.741000	0.42261	6.046000	0.71029	2.674000	0.91012	0.655000	0.94253	GAC		0.527	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792	
CFAP44	55779	hgsc.bcm.edu	37	3	113099853	113099853	+	Missense_Mutation	SNP	G	G	C			TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	g.chr3:113099853G>C	ENST00000295868.2	-	16	2107	c.1945C>G	c.(1945-1947)Ctt>Gtt	p.L649V	WDR52_ENST00000393845.2_Missense_Mutation_p.L649V|WDR52_ENST00000475568.1_5'Flank	NM_018338.3	NP_060808.2												p.L649V(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						ATGGTTGGAAGTGGAGCTTCA	0.299																																					p.L649V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1945G	3						.						94.0	92.0	93.0					3																	113099853		2201	4298	6499	114582543	SO:0001583	missense	55779	exon16																														ENST00000295868.2:c.1945C>G	3.37:g.113099853G>C	ENSP00000295868:p.Leu649Val		114582543	NM_001164496		Missense_Mutation	SNP	ENST00000295868.2	37	CCDS2972.1	.	.	.	.	.	.	.	.	.	.	G	8.146	0.786260	0.16189	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	T;T	0.19806	2.12;2.12	5.32	-5.52	0.02560	WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.12008	0.0292	L	0.35341	1.055	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.41698	-0.9494	9	0.14656	T	0.56	.	9.1275	0.36824	0.1655:0.3845:0.45:0.0	.	649	Q96MT7	WDR52_HUMAN	V	649	ENSP00000377428:L649V;ENSP00000295868:L649V	ENSP00000295868:L649V	L	-	1	0	WDR52	114582543	0.000000	0.05858	0.002000	0.10522	0.942000	0.58702	-1.121000	0.03270	-0.521000	0.06426	0.557000	0.71058	CTT		0.299	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3		
C3orf30	152405	hgsc.bcm.edu	37	3	118865730	118865730	+	Missense_Mutation	SNP	G	G	A	rs148898242	byFrequency	TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	g.chr3:118865730G>A	ENST00000295622.1	+	1	734	c.694G>A	c.(694-696)Gtc>Atc	p.V232I	IGSF11_ENST00000354673.2_5'Flank|IGSF11_ENST00000441144.2_5'Flank|IGSF11_ENST00000425327.2_5'Flank|RP11-484M3.5_ENST00000490594.1_5'Flank	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	232								p.V232I(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		TGGGTCATCCGTCCCATCTGA	0.488													G|||	2	0.000399361	0.0015	0.0	5008	,	,		25566	0.0		0.0	False		,,,				2504	0.0				p.V232I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G694A	3						.	G	ILE/VAL	24,4382	31.7+/-61.6	0,24,2179	95.0	97.0	96.0		694	-5.5	0.0	3	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	yes	missense	C3orf30	NM_152539.2	29	0,25,6478	AA,AG,GG		0.0116,0.5447,0.1922	benign	232/537	118865730	25,12981	2203	4300	6503	120348420	SO:0001583	missense	152405	exon1			AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.694G>A	3.37:g.118865730G>A	ENSP00000295622:p.Val232Ile		120348420	NM_152539	A1L4B7	Missense_Mutation	SNP	ENST00000295622.1	37	CCDS2984.1	3|3	0.0013736263736263737|0.0013736263736263737	3|3	0.006097560975609756|0.006097560975609756	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	2.851|2.851	-0.238222|-0.238222	0.05944|0.05944	0.005447|0.005447	1.16E-4|1.16E-4	ENSG00000163424|ENSG00000163424	ENST00000460150;ENST00000473121|ENST00000295622;ENST00000470341	.|T	.|0.28454	.|1.61	2.76|2.76	-5.51|-5.51	0.02568|0.02568	.|.	.|2.127150	.|0.02299	.|N	.|0.071028	T|T	0.10895|0.10895	0.0266|0.0266	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B;B	.|0.25521	.|0.128;0.0	.|B;B	.|0.14578	.|0.011;0.0	T|T	0.11299|0.11299	-1.0593|-1.0593	5|10	.|0.38643	.|T	.|0.18	2.7375|2.7375	5.0795|5.0795	0.14649|0.14649	0.4384:0.0:0.4157:0.1459|0.4384:0.0:0.4157:0.1459	.|.	.|232;232	.|E9PFE5;Q96M34	.|.;CC030_HUMAN	H|I	195;24|232	.|ENSP00000295622:V232I	.|ENSP00000295622:V232I	R|V	+|+	2|1	0|0	C3orf30|C3orf30	120348420|120348420	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-1.411000|-1.411000	0.02478|0.02478	-1.077000|-1.077000	0.03121|0.03121	-1.429000|-1.429000	0.01096|0.01096	CGT|GTC		0.488	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354838.1	NM_152539	
CTNNB1	1499	hgsc.bcm.edu	37	3	41277892	41277892	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	g.chr3:41277892G>A	ENST00000349496.5	+	12	2136	c.1856G>A	c.(1855-1857)tGt>tAt	p.C619Y	CTNNB1_ENST00000396185.3_Missense_Mutation_p.C619Y|CTNNB1_ENST00000405570.1_Missense_Mutation_p.C619Y|CTNNB1_ENST00000453024.1_Missense_Mutation_p.C612Y|CTNNB1_ENST00000396183.3_Missense_Mutation_p.C619Y	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	619					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|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 cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.C619Y(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		GGGGTCCTCTGTGAACTTGCT	0.438		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												p.C619Y	Colon(6;3 56 14213 18255)		Dom	yes		3	3p22-p21.3	1499	"""catenin (cadherin-associated protein), beta 1"""		"""E, M, O"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1856A	3						.						129.0	135.0	133.0					3																	41277892		2203	4300	6503	41252896	SO:0001583	missense	1499	exon12	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1856G>A	3.37:g.41277892G>A	ENSP00000344456:p.Cys619Tyr		41252896	NM_001098210	A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352586	0.82132	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38	5.6	5.6	0.85130	Armadillo-like helical (1);Armadillo-type fold (1);	0.040249	0.85682	D	0.000000	T	0.82208	0.4987	M	0.80616	2.505	0.80722	D	1	P;D;P	0.63046	0.837;0.992;0.923	B;D;P	0.65573	0.332;0.936;0.455	T	0.80353	-0.1418	10	0.33940	T	0.23	-14.298	19.6229	0.95667	0.0:0.0:1.0:0.0	.	547;54;619	B4DSW9;P35222-2;P35222	.;.;CTNB1_HUMAN	Y	619;619;619;612;619	ENSP00000385604:C619Y;ENSP00000379486:C619Y;ENSP00000344456:C619Y;ENSP00000411226:C612Y;ENSP00000379488:C619Y	ENSP00000344456:C619Y	C	+	2	0	CTNNB1	41252896	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.628000	0.89032	0.655000	0.94253	TGT		0.438	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210	
CPB1	1360	hgsc.bcm.edu	37	3	148563303	148563303	+	Missense_Mutation	SNP	C	C	T	rs142211299		TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	g.chr3:148563303C>T	ENST00000491148.1	+	10	1205	c.871C>T	c.(871-873)Cgc>Tgc	p.R291C	CPB1_ENST00000282957.4_Missense_Mutation_p.R291C			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	291						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.R291C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TGATTTCATCCGCAACAAACT	0.463																																					p.R291C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C871T	3						.	C	CYS/ARG	0,4406		0,0,2203	135.0	132.0	133.0		871	5.7	1.0	3	dbSNP_134	133	1,8599	1.2+/-3.3	0,1,4299	no	missense	CPB1	NM_001871.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	291/418	148563303	1,13005	2203	4300	6503	150045993	SO:0001583	missense	1360	exon9			AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase B"", ""tissue carboxypeptidase B"", ""protaminase"""	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.871C>T	3.37:g.148563303C>T	ENSP00000417222:p.Arg291Cys		150045993	NM_001871	O60834|Q53XJ0|Q96BQ8	Missense_Mutation	SNP	ENST00000491148.1	37	CCDS33874.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883883	0.91814	0.0	1.16E-4	ENSG00000153002	ENST00000491148;ENST00000282957	T;T	0.12039	2.72;2.72	5.69	5.69	0.88448	Peptidase M14, carboxypeptidase A (2);	0.048732	0.85682	D	0.000000	T	0.47619	0.1455	M	0.89353	3.025	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.54437	-0.8294	10	0.87932	D	0	.	19.8033	0.96518	0.0:1.0:0.0:0.0	.	291	P15086	CBPB1_HUMAN	C	291	ENSP00000417222:R291C;ENSP00000282957:R291C	ENSP00000282957:R291C	R	+	1	0	CPB1	150045993	1.000000	0.71417	0.988000	0.46212	0.778000	0.44026	7.468000	0.80943	2.677000	0.91161	0.655000	0.94253	CGC		0.463	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355928.1	NM_001871	
KCNA6	3742	hgsc.bcm.edu	37	12	4919742	4919742	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	g.chr12:4919742G>A	ENST00000280684.3	+	1	1401	c.535G>A	c.(535-537)Gtc>Atc	p.V179I	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Missense_Mutation_p.V179I			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	179					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)	p.V179I(1)		NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	CATCGCCATCGTCTCCGTGTT	0.592										HNSCC(72;0.22)																											p.V179I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G535A	12						.						67.0	59.0	62.0					12																	4919742		2203	4300	6503	4790003	SO:0001583	missense	3742	exon1			X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.535G>A	12.37:g.4919742G>A	ENSP00000280684:p.Val179Ile		4790003	NM_002235		Missense_Mutation	SNP	ENST00000280684.3	37	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.446111	0.43429	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	T;T	0.76060	-0.99;-0.99	4.99	4.99	0.66335	.	0.127069	0.52532	D	0.000077	T	0.60560	0.2278	N	0.25647	0.755	0.58432	D	0.999995	B	0.29188	0.236	B	0.19148	0.024	T	0.57670	-0.7771	10	0.16896	T	0.51	.	17.4425	0.87568	0.0:0.0:1.0:0.0	.	179	P17658	KCNA6_HUMAN	I	179	ENSP00000408321:V179I;ENSP00000280684:V179I	ENSP00000280684:V179I	V	+	1	0	KCNA6	4790003	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	7.798000	0.85924	2.595000	0.87683	0.563000	0.77884	GTC		0.592	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235	
KRAS	3845	hgsc.bcm.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											p.G12V	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	KRAS,haematopoietic_and_lymphoid_tissue,NS,Substitution - Missense,0	.	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	c.G35T	12						.						91.0	81.0	85.0					12																	25398284		2203	4300	6503	25289551	SO:0001583	missense	3845	exon2	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val		25289551	NM_004985	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360	
GLIPR1L2	144321	hgsc.bcm.edu	37	12	75816782	75816782	+	Intron	SNP	A	A	C			TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	g.chr12:75816782A>C	ENST00000550916.1	+	4	717				GLIPR1L2_ENST00000435775.1_Intron|GLIPR1L2_ENST00000441218.1_Intron|GLIPR1L2_ENST00000378692.3_Intron|GLIPR1L2_ENST00000320460.4_Missense_Mutation_p.K228T	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2							integral component of membrane (GO:0016021)		p.K228T(1)		kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						AAGATAAAGAAAATAAACATG	0.328																																					p.K228T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A683C	12						.						126.0	129.0	128.0					12																	75816782		2203	4299	6502	74103049	SO:0001627	intron_variant	144321	exon4			BC029557	CCDS9010.1, CCDS58258.1	12q21.1	2014-06-03				ENSG00000180481			28592	protein-coding gene	gene with protein product		610394				12477932	Standard	NM_001270396		Approved	MGC39497	uc001sxr.2	Q4G1C9	OTTHUMG00000169756	ENST00000550916.1:c.670+13A>C	12.37:g.75816782A>C			74103049	NM_152436	Q6MZS1|Q8N6N0|Q8NA43	Missense_Mutation	SNP	ENST00000550916.1	37	CCDS58258.1	.	.	.	.	.	.	.	.	.	.	A	11.98	1.800865	0.31869	.	.	ENSG00000180481	ENST00000320460	T	0.06933	3.24	4.46	0.312	0.15837	.	.	.	.	.	T	0.06142	0.0159	.	.	.	0.09310	N	0.999999	P	0.44816	0.844	B	0.41174	0.349	T	0.33675	-0.9859	7	.	.	.	.	4.1383	0.10181	0.6233:0.1748:0.2019:0.0	.	228	Q4G1C9-2	.	T	228	ENSP00000317385:K228T	.	K	+	2	0	GLIPR1L2	74103049	0.974000	0.33945	0.059000	0.19551	0.799000	0.45148	0.476000	0.22180	0.105000	0.17753	0.454000	0.30748	AAA		0.328	GLIPR1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405718.1	NM_152436	
PYGO1	26108	hgsc.bcm.edu	37	15	55839260	55839260	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	g.chr15:55839260T>C	ENST00000302000.6	-	3	315	c.221A>G	c.(220-222)gAc>gGc	p.D74G	PYGO1_ENST00000563719.1_Missense_Mutation_p.D74G	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	74	Pro-rich.				hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|spermatid nucleus differentiation (GO:0007289)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.D74G(1)		endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		ATTATAGTTGTCATCAAATGG	0.428																																					p.D74G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A221G	15						.						67.0	64.0	65.0					15																	55839260		2193	4292	6485	53626552	SO:0001583	missense	26108	exon3			AF457207	CCDS10155.1	15q21.1	2013-10-09	2013-10-09		ENSG00000171016	ENSG00000171016		"""Zinc fingers, PHD-type"""	30256	protein-coding gene	gene with protein product		606902	"""pygopus homolog 1 (Drosophila)"""			11988739	Standard	NM_015617		Approved		uc002adf.1	Q9Y3Y4	OTTHUMG00000132009	ENST00000302000.6:c.221A>G	15.37:g.55839260T>C	ENSP00000302327:p.Asp74Gly		53626552	NM_015617	A7Y2D6	Missense_Mutation	SNP	ENST00000302000.6	37	CCDS10155.1	.	.	.	.	.	.	.	.	.	.	T	19.00	3.741991	0.69418	.	.	ENSG00000171016	ENST00000302000;ENST00000401688	T	0.68331	-0.32	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.73745	0.3626	L	0.36672	1.1	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.73933	-0.3826	10	0.42905	T	0.14	-16.2368	14.6174	0.68558	0.0:0.0:0.0:1.0	.	74;74	A7Y2D6;Q9Y3Y4	.;PYGO1_HUMAN	G	74	ENSP00000302327:D74G	ENSP00000302327:D74G	D	-	2	0	PYGO1	53626552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.040000	0.76551	2.103000	0.63969	0.477000	0.44152	GAC		0.428	PYGO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254977.2	NM_015617	
IDH3A	3419	hgsc.bcm.edu	37	15	78453965	78453965	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	g.chr15:78453965A>G	ENST00000299518.2	+	5	415	c.332A>G	c.(331-333)aAt>aGt	p.N111S	IDH3A_ENST00000559205.1_Intron|IDH3A_ENST00000561366.1_5'Flank|IDH3A_ENST00000558554.1_Intron|IDH3A_ENST00000441490.2_Missense_Mutation_p.N2S|IDH3A_ENST00000558535.1_3'UTR	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	111					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.N111S(1)		endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12						CCATCTATGAATTTACTGCTG	0.453																																					p.N111S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A332G	15						.						136.0	124.0	128.0					15																	78453965		2196	4293	6489	76241020	SO:0001583	missense	3419	exon5				CCDS10297.1	15q25.1-q25.2	2008-07-18			ENSG00000166411	ENSG00000166411	1.1.1.41		5384	protein-coding gene	gene with protein product	"""H-IDH alpha"", ""isocitric dehydrogenase"", ""isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial"", ""NAD+-specific ICDH"", ""NAD(H)-specific isocitrate dehydrogenase alpha subunit"", ""isocitrate dehydrogenase (NAD+) alpha chain"""	601149				8833160	Standard	NM_005530		Approved		uc002bdd.3	P50213	OTTHUMG00000143732	ENST00000299518.2:c.332A>G	15.37:g.78453965A>G	ENSP00000299518:p.Asn111Ser		76241020	NM_005530	D3DW83|Q9H3X0	Missense_Mutation	SNP	ENST00000299518.2	37	CCDS10297.1	.	.	.	.	.	.	.	.	.	.	A	32	5.153617	0.94645	.	.	ENSG00000166411	ENST00000299518;ENST00000441490	T;T	0.58506	0.33;0.33	6.02	6.02	0.97574	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	T	0.77711	0.4171	M	0.80028	2.48	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.80774	-0.1232	10	0.87932	D	0	-30.3593	15.7232	0.77732	1.0:0.0:0.0:0.0	.	111	P50213	IDH3A_HUMAN	S	111;2	ENSP00000299518:N111S;ENSP00000387506:N2S	ENSP00000299518:N111S	N	+	2	0	IDH3A	76241020	1.000000	0.71417	0.959000	0.39883	0.992000	0.81027	9.081000	0.94049	2.304000	0.77564	0.528000	0.53228	AAT		0.453	IDH3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289799.4	NM_005530	
UNC5C	8633	hgsc.bcm.edu	37	4	96140172	96140172	+	Silent	SNP	G	G	A	rs544350901		TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	g.chr4:96140172G>A	ENST00000453304.1	-	9	1941	c.1593C>T	c.(1591-1593)acC>acT	p.T531T	UNC5C_ENST00000506749.1_Silent_p.T550T	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	531	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)	p.T531T(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TGCCAAATGCGGTACAGGATG	0.483													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19990	0.0		0.0	False		,,,				2504	0.0				p.T531T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1593T	4						.						132.0	103.0	113.0					4																	96140172		2203	4300	6503	96359195	SO:0001819	synonymous_variant	8633	exon9			AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1593C>T	4.37:g.96140172G>A			96359195	NM_003728	Q8IUT0	Silent	SNP	ENST00000453304.1	37	CCDS3643.1																																																																																				0.483	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728	
ACMSD	130013	hgsc.bcm.edu	37	2	135621154	135621154	+	Missense_Mutation	SNP	G	G	A	rs201644333		TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	g.chr2:135621154G>A	ENST00000356140.5	+	5	575	c.439G>A	c.(439-441)Gtc>Atc	p.V147I	AC016725.4_ENST00000392929.2_RNA|ACMSD_ENST00000392928.1_Missense_Mutation_p.V89I|ACMSD_ENST00000283054.4_Missense_Mutation_p.V89I	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	147					cellular nitrogen compound metabolic process (GO:0034641)|quinolinate metabolic process (GO:0046874)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminocarboxymuconate-semialdehyde decarboxylase activity (GO:0001760)|metal ion binding (GO:0046872)	p.V147I(1)		endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		TGGCACCCACGTCAACGAGTG	0.652													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17493	0.0		0.0	False		,,,				2504	0.0				p.V147I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G439A	2						.						66.0	53.0	58.0					2																	135621154		2203	4300	6503	135337624	SO:0001583	missense	130013	exon5			AB071418	CCDS2173.2	2q21.3	2008-03-11			ENSG00000153086	ENSG00000153086	4.1.1.45		19288	protein-coding gene	gene with protein product		608889				12140278	Standard	NM_138326		Approved		uc002ttz.3	Q8TDX5	OTTHUMG00000131711	ENST00000356140.5:c.439G>A	2.37:g.135621154G>A	ENSP00000348459:p.Val147Ile		135337624	NM_138326	Q3B7X3|Q53SR5|Q96KY2	Missense_Mutation	SNP	ENST00000356140.5	37	CCDS2173.2	16	0.007326007326007326	7	0.014227642276422764	1	0.0027624309392265192	2	0.0034965034965034965	6	0.0079155672823219	G	7.444	0.641304	0.14451	.	.	ENSG00000153086	ENST00000356140;ENST00000283054;ENST00000392928	.	.	.	5.74	1.71	0.24356	.	0.226724	0.51477	N	0.000099	T	0.19287	0.0463	N	0.10629	0.01	0.37405	D	0.913026	B;B	0.06786	0.001;0.0	B;B	0.16289	0.015;0.011	T	0.10989	-1.0606	9	0.09843	T	0.71	-7.4584	9.4027	0.38442	0.5545:0.0:0.4455:0.0	.	89;147	Q53SR5;Q8TDX5	.;ACMSD_HUMAN	I	147;89;89	.	ENSP00000283054:V89I	V	+	1	0	ACMSD	135337624	0.027000	0.19231	0.996000	0.52242	0.885000	0.51271	0.364000	0.20325	0.146000	0.19002	-0.367000	0.07326	GTC		0.652	ACMSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254627.1		
REG1A	5967	hgsc.bcm.edu	37	2	79349974	79349974	+	Missense_Mutation	SNP	G	G	A	rs200685695		TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	g.chr2:79349974G>A	ENST00000233735.1	+	5	432	c.329G>A	c.(328-330)cGc>cAc	p.R110H		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	110	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)	p.R110P(1)|p.R110H(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						TAGAACCGCCGCTGGCACTGG	0.552																																					p.R110H												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G329A	2						.	G	HIS/ARG	0,4406		0,0,2203	107.0	107.0	107.0		329	2.9	0.9	2		107	2,8598	2.2+/-6.3	0,2,4298	yes	missense	REG1A	NM_002909.4	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	110/167	79349974	2,13004	2203	4300	6503	79203482	SO:0001583	missense	5967	exon5				CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"""pancreatic stone protein"", ""pancreatic thread protein"""	167770	"""regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"""	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.329G>A	2.37:g.79349974G>A	ENSP00000233735:p.Arg110His		79203482	NM_002909	P11379|Q4ZG28	Missense_Mutation	SNP	ENST00000233735.1	37	CCDS1964.1	.	.	.	.	.	.	.	.	.	.	g	11.72	1.723424	0.30503	0.0	2.33E-4	ENSG00000115386	ENST00000233735	T	0.18960	2.18	2.92	2.92	0.33932	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.391148	0.18799	N	0.130853	T	0.17066	0.0410	L	0.43554	1.36	0.26900	N	0.967122	B	0.02656	0.0	B	0.04013	0.001	T	0.10132	-1.0643	10	0.37606	T	0.19	.	9.4067	0.38466	0.0:0.0:1.0:0.0	.	110	P05451	REG1A_HUMAN	H	110	ENSP00000233735:R110H	ENSP00000233735:R110H	R	+	2	0	REG1A	79203482	0.014000	0.17966	0.948000	0.38648	0.801000	0.45260	0.744000	0.26245	1.637000	0.50538	0.557000	0.71058	CGC		0.552	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909	
LCT	3938	hgsc.bcm.edu	37	2	136562381	136562381	+	Missense_Mutation	SNP	C	C	T	rs371776642		TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	g.chr2:136562381C>T	ENST00000264162.2	-	10	4430	c.4420G>A	c.(4420-4422)Gtg>Atg	p.V1474M		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1474	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.V1474M(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	ATGAGCCTCACGTAGTAGTTC	0.587																																					p.V1474M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4420A	2						.	C	MET/VAL	0,4406		0,0,2203	79.0	81.0	80.0		4420	-1.0	0.0	2		80	2,8598	2.2+/-6.3	0,2,4298	no	missense	LCT	NM_002299.2	21	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	1474/1928	136562381	2,13004	2203	4300	6503	136278851	SO:0001583	missense	3938	exon10			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.4420G>A	2.37:g.136562381C>T	ENSP00000264162:p.Val1474Met		136278851	NM_002299	Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	5.463	0.270414	0.10349	0.0	2.33E-4	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.54675	0.56	5.34	-1.03	0.10102	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.763143	0.12722	N	0.444660	T	0.45316	0.1336	L	0.52011	1.625	0.09310	N	1	P	0.49696	0.927	P	0.48571	0.582	T	0.32508	-0.9904	10	0.38643	T	0.18	-0.4233	2.7674	0.05324	0.119:0.3411:0.3465:0.1934	.	1474	P09848	LPH_HUMAN	M	1474;906	ENSP00000264162:V1474M	ENSP00000264162:V1474M	V	-	1	0	LCT	136278851	0.000000	0.05858	0.002000	0.10522	0.030000	0.12068	-0.158000	0.10070	-0.264000	0.09365	-0.302000	0.09304	GTG		0.587	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299	
GCNT1	2650	hgsc.bcm.edu	37	9	79117338	79117338	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	g.chr9:79117338C>T	ENST00000376730.4	+	4	524	c.41C>T	c.(40-42)cCc>cTc	p.P14L	GCNT1_ENST00000536223.1_Missense_Mutation_p.P14L|GCNT1_ENST00000444201.2_Missense_Mutation_p.P14L|GCNT1_ENST00000442371.1_Missense_Mutation_p.P14L	NM_001097636.1|NM_001490.4	NP_001091105.1|NP_001481.2	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	14					cell adhesion molecule production (GO:0060352)|cellular protein metabolic process (GO:0044267)|glycoprotein biosynthetic process (GO:0009101)|kidney morphogenesis (GO:0060993)|leukocyte tethering or rolling (GO:0050901)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to insulin (GO:0032868)|tissue morphogenesis (GO:0048729)	extracellular space (GO:0005615)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)	p.P14L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						TTTTCTTATCCCACCAAATAC	0.403																																					p.P14L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C41T	9						.						103.0	105.0	104.0					9																	79117338		2203	4300	6503	78307158	SO:0001583	missense	2650	exon3			L41415	CCDS6653.1	9q13	2013-02-25	2010-03-16		ENSG00000187210	ENSG00000187210	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4203	protein-coding gene	gene with protein product	"""core 2 beta1,6 N-acetylglucosaminyltransferase-I"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N--acetylglucosaminyltransferase"""	600391	"""glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""	NACGT2		8449405, 9915862	Standard	NM_001490		Approved	C2GNT, NAGCT2	uc004akf.4	Q02742	OTTHUMG00000020044	ENST00000376730.4:c.41C>T	9.37:g.79117338C>T	ENSP00000365920:p.Pro14Leu		78307158	NM_001097635	Q6DJZ4	Missense_Mutation	SNP	ENST00000376730.4	37	CCDS6653.1	.	.	.	.	.	.	.	.	.	.	c	12.90	2.075141	0.36566	.	.	ENSG00000187210	ENST00000536223;ENST00000442371;ENST00000444201;ENST00000376730	T;T;T;T	0.09073	3.02;3.02;3.02;3.02	5.73	3.72	0.42706	.	0.378660	0.25717	N	0.028764	T	0.06325	0.0163	L	0.41236	1.265	0.45139	D	0.998154	B	0.32245	0.361	B	0.25140	0.058	T	0.38779	-0.9645	9	.	.	.	.	8.0647	0.30654	0.3852:0.5043:0.1105:0.0	.	14	Q02742	GCNT1_HUMAN	L	14	ENSP00000440883:P14L;ENSP00000415454:P14L;ENSP00000390703:P14L;ENSP00000365920:P14L	.	P	+	2	0	GCNT1	78307158	0.979000	0.34478	0.992000	0.48379	0.698000	0.40448	2.481000	0.45215	1.403000	0.46800	0.650000	0.86243	CCC		0.403	GCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052725.1	NM_001097634	
GOLM1	51280	hgsc.bcm.edu	37	9	88694228	88694228	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	g.chr9:88694228C>A	ENST00000388712.3	-	2	176	c.8G>T	c.(7-9)gGc>gTc	p.G3V	GOLM1_ENST00000257504.6_5'Flank|GOLM1_ENST00000388711.3_Missense_Mutation_p.G3V	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	3					nucleus organization (GO:0006997)|regulation of lipid metabolic process (GO:0019216)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)		p.G3V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						GTTTCCCAAGCCCATCATCTC	0.507																																					p.G3V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G8T	9						.						36.0	38.0	37.0					9																	88694228		2203	4300	6503	87884048	SO:0001583	missense	51280	exon2			AF236056	CCDS35054.1	9q21.33	2012-12-13	2007-07-30	2007-07-30	ENSG00000135052	ENSG00000135052			15451	protein-coding gene	gene with protein product		606804	"""golgi phosphoprotein 2"", ""chromosome 9 open reading frame 155"""	GOLPH2, C9orf155		10831838, 18953438, 22542941	Standard	NM_016548		Approved	GP73, FLJ23608, bA379P1.3	uc004aol.3	Q8NBJ4	OTTHUMG00000020130	ENST00000388712.3:c.8G>T	9.37:g.88694228C>A	ENSP00000373364:p.Gly3Val		87884048	NM_177937	Q6IAF4|Q9NRB9	Missense_Mutation	SNP	ENST00000388712.3	37	CCDS35054.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097230	0.76870	.	.	ENSG00000135052	ENST00000388712;ENST00000388711;ENST00000486130;ENST00000466178	D;D	0.86297	-2.1;-2.1	5.39	5.39	0.77823	.	0.139249	0.47093	D	0.000246	D	0.92668	0.7670	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.93202	0.6592	10	0.87932	D	0	-0.0921	13.4776	0.61318	0.0:0.9227:0.0:0.0773	.	3	Q8NBJ4	GOLM1_HUMAN	V	3	ENSP00000373364:G3V;ENSP00000373363:G3V	ENSP00000373363:G3V	G	-	2	0	GOLM1	87884048	1.000000	0.71417	0.998000	0.56505	0.903000	0.53119	4.658000	0.61497	2.522000	0.85027	0.555000	0.69702	GGC		0.507	GOLM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052904.2	NM_177937	
TMTC4	84899	hgsc.bcm.edu	37	13	101287384	101287384	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	g.chr13:101287384C>T	ENST00000376234.3	-	10	1400	c.1211G>A	c.(1210-1212)cGa>cAa	p.R404Q	TMTC4_ENST00000342624.5_Missense_Mutation_p.R423Q|TMTC4_ENST00000328767.5_Missense_Mutation_p.R293Q|TMTC4_ENST00000462211.1_5'UTR	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	404						integral component of membrane (GO:0016021)		p.R423Q(1)		breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GAAGCCCACTCGGAAGAACAG	0.502																																					p.R423Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1268A	13						.						55.0	50.0	52.0					13																	101287384		2203	4300	6503	100085385	SO:0001583	missense	84899	exon11				CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"""Tetratricopeptide (TTC) repeat domain containing"""	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.1211G>A	13.37:g.101287384C>T	ENSP00000365408:p.Arg404Gln		100085385	NM_032813	A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Missense_Mutation	SNP	ENST00000376234.3	37	CCDS41904.1	.	.	.	.	.	.	.	.	.	.	C	34	5.335777	0.95758	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	T;T;T	0.41400	1.0;1.0;1.0	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.66499	0.2795	M	0.88031	2.925	0.58432	D	0.999997	P;D;P;P	0.56035	0.827;0.974;0.915;0.939	B;P;P;P	0.56514	0.282;0.8;0.556;0.576	T	0.69026	-0.5254	10	0.36615	T	0.2	.	19.425	0.94737	0.0:1.0:0.0:0.0	.	293;404;404;423	B7Z666;Q5T4D3-2;Q5T4D3;Q5T4D3-3	.;.;TMTC4_HUMAN;.	Q	404;423;293	ENSP00000365408:R404Q;ENSP00000343871:R423Q;ENSP00000365409:R293Q	ENSP00000365409:R293Q	R	-	2	0	TMTC4	100085385	0.998000	0.40836	0.995000	0.50966	0.864000	0.49448	3.982000	0.56909	2.584000	0.87258	0.563000	0.77884	CGA		0.502	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813	
SORCS1	114815	hgsc.bcm.edu	37	10	108431071	108431071	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	g.chr10:108431071G>A	ENST00000263054.6	-	16	2120	c.2113C>T	c.(2113-2115)Cgg>Tgg	p.R705W	SORCS1_ENST00000369698.1_Missense_Mutation_p.R240W|SORCS1_ENST00000344440.6_Missense_Mutation_p.R705W	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	705					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.R705W(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ATACACTTCCGCTCTGATTTT	0.448																																					p.R705W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2113T	10						.						254.0	213.0	227.0					10																	108431071		2203	4300	6503	108421061	SO:0001583	missense	114815	exon16			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2113C>T	10.37:g.108431071G>A	ENSP00000263054:p.Arg705Trp		108421061	NM_052918	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.314014	0.60414	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.29917	1.55;1.55;1.55	5.45	2.09	0.27110	VPS10 (1);	0.252502	0.35124	N	0.003427	T	0.24314	0.0589	N	0.08118	0	0.32861	D	0.507881	P;P;P;P;P	0.49559	0.877;0.925;0.925;0.877;0.925	B;P;P;P;P	0.52710	0.39;0.707;0.594;0.513;0.594	T	0.30387	-0.9980	9	.	.	.	-20.7334	14.1207	0.65184	0.0:0.0:0.4938:0.5061	.	705;705;705;705;705	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	W	240;705;705	ENSP00000358712:R240W;ENSP00000263054:R705W;ENSP00000345964:R705W	.	R	-	1	2	SORCS1	108421061	0.948000	0.32251	1.000000	0.80357	0.987000	0.75469	0.965000	0.29319	0.774000	0.33427	-0.152000	0.13540	CGG		0.448	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918	
CDH10	1008	hgsc.bcm.edu	37	5	24492994	24492994	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	g.chr5:24492994A>G	ENST00000264463.4	-	10	2063	c.1556T>C	c.(1555-1557)tTa>tCa	p.L519S	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	519	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L519S(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTGTCCACCTAAAGGGTCATC	0.328										HNSCC(23;0.051)																											p.L519S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1556C	5						.						164.0	177.0	172.0					5																	24492994		2203	4298	6501	24528751	SO:0001583	missense	1008	exon10			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1556T>C	5.37:g.24492994A>G	ENSP00000264463:p.Leu519Ser		24528751	NM_006727	Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	A	9.899	1.206321	0.22205	.	.	ENSG00000040731	ENST00000264463	T	0.51817	0.69	4.94	4.94	0.65067	Cadherin (4);Cadherin-like (1);	0.497760	0.17685	N	0.165493	T	0.24509	0.0594	N	0.04335	-0.225	0.37800	D	0.927671	B	0.19817	0.039	B	0.24155	0.051	T	0.17561	-1.0365	10	0.21540	T	0.41	.	8.7489	0.34602	0.9144:0.0:0.0856:0.0	.	519	Q9Y6N8	CAD10_HUMAN	S	519	ENSP00000264463:L519S	ENSP00000264463:L519S	L	-	2	0	CDH10	24528751	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.269000	0.65542	1.982000	0.57802	0.477000	0.44152	TTA		0.328	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727	
CARD6	84674	hgsc.bcm.edu	37	5	40853936	40853936	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	g.chr5:40853936A>C	ENST00000254691.5	+	3	2701	c.2502A>C	c.(2500-2502)caA>caC	p.Q834H	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	834					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)			p.Q834H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						AGAGACCACAAATGATGGGAA	0.512																																					p.Q834H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2502C	5						.						215.0	221.0	219.0					5																	40853936		2203	4300	6503	40889693	SO:0001583	missense	84674	exon3			AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.2502A>C	5.37:g.40853936A>C	ENSP00000254691:p.Gln834His		40889693	NM_032587	Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	A	15.17	2.753474	0.49362	.	.	ENSG00000132357	ENST00000254691	T	0.17854	2.25	4.79	1.4	0.22301	.	0.300334	0.24193	N	0.040685	T	0.18551	0.0445	L	0.32530	0.975	0.09310	N	0.999994	D	0.60160	0.987	P	0.54460	0.753	T	0.04737	-1.0930	10	0.62326	D	0.03	-2.8554	6.6502	0.22957	0.5025:0.0:0.4975:0.0	.	834	Q9BX69	CARD6_HUMAN	H	834	ENSP00000254691:Q834H	ENSP00000254691:Q834H	Q	+	3	2	CARD6	40889693	0.004000	0.15560	0.009000	0.14445	0.037000	0.13140	0.134000	0.15932	0.451000	0.26802	0.260000	0.18958	CAA		0.512	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3		
IL9	3578	hgsc.bcm.edu	37	5	135228122	135228122	+	Silent	SNP	A	A	G			TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-3575-01A-01W-0831-10	TCGA-AG-3575-10A-01W-0831-10	g.chr5:135228122A>G	ENST00000274520.1	-	5	403	c.393T>C	c.(391-393)atT>atC	p.I131I		NM_000590.1	NP_000581.1	P15248	IL9_HUMAN	interleukin 9	131					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-5 biosynthetic process (GO:0045407)	extracellular space (GO:0005615)		p.I131I(1)		large_intestine(3)|lung(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTTTCTGGAAAATTTCCAGAA	0.368																																					p.I131I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T393C	5						.						66.0	73.0	70.0					5																	135228122		2203	4300	6503	135256021	SO:0001819	synonymous_variant	3578	exon5			S63356	CCDS4189.1	5q31-q35	2008-07-18			ENSG00000145839	ENSG00000145839		"""Interleukins and interleukin receptors"""	6029	protein-coding gene	gene with protein product	"""p40 T-cell and mast cell growth factor"", ""T-cell growth factor p40"", ""p40 cytokine"", ""homolog of mouse T cell and mast cell growth factor 40"""	146931				8379467	Standard	NM_000590		Approved	IL-9, HP40, P40	uc003lbb.1	P15248	OTTHUMG00000129147	ENST00000274520.1:c.393T>C	5.37:g.135228122A>G			135256021	NM_000590		Silent	SNP	ENST00000274520.1	37	CCDS4189.1																																																																																				0.368	IL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251210.1	NM_000590	
