#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	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
FBXO44	93611	broad.mit.edu	37	1	11716011	11716011	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:11716011T>C	ENST00000251547.5	+	2	201	c.119T>C	c.(118-120)cTc>cCc	p.L40P	FBXO44_ENST00000376768.1_Missense_Mutation_p.L40P|FBXO44_ENST00000376762.4_Missense_Mutation_p.L40P|FBXO2_ENST00000475961.1_5'Flank|FBXO44_ENST00000376770.1_Missense_Mutation_p.L40P|FBXO44_ENST00000376760.1_Missense_Mutation_p.L40P|FBXO2_ENST00000354287.4_5'Flank|FBXO44_ENST00000251546.4_Missense_Mutation_p.L40P	NM_033182.5	NP_149438.2	Q9H4M3	FBX44_HUMAN	F-box protein 44	40	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.					SCF ubiquitin ligase complex (GO:0019005)				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCGGGACCTCATCGACCTC	0.632																																						uc010oar.2																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8						c.(118-120)cTc>cCc		Homo sapiens F-box protein 44 (FBXO44), transcript variant 3, mRNA.							63.0	68.0	66.0					1																	11716011		2203	4300	6503	SO:0001583	missense	93611				protein catabolic process	SCF ubiquitin ligase complex	protein binding	g.chr1:11716011T>C	AY040878	CCDS131.1, CCDS132.1	1p36.21	2008-03-26			ENSG00000132879	ENSG00000132879		"""F-boxes /  ""other"""""	24847	protein-coding gene	gene with protein product		609111				12383498	Standard	XM_005263535		Approved	FBX30, FBG3, MGC14140, Fbxo6a, Fbx44	uc001asm.3	Q9H4M3	OTTHUMG00000002071	ENST00000251547.5:c.119T>C	1.37:g.11716011T>C	ENSP00000251547:p.Leu40Pro					FBXO2_uc001asj.3_5'Flank|FBXO2_uc009vna.3_5'Flank|FBXO2_uc009vnb.1_5'Flank|FBXO44_uc001ask.3_Missense_Mutation_p.L40P|FBXO44_uc010oaq.1_Missense_Mutation_p.L40P|FBXO44_uc010oas.2_5'UTR|FBXO44_uc001asm.3_Missense_Mutation_p.L40P|FBXO44_uc001asl.3_Missense_Mutation_p.L40P|FBXO44_uc001asn.3_Missense_Mutation_p.L40P	p.L40P	NM_183413	NP_904320	Q9H4M3	FBX44_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)	1	245	+	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	40			F-box.		B3KNZ2|B7Z743|Q5TGX2|Q5TGX4|Q5TGX5|Q68DJ9|Q8WWY2	Missense_Mutation	SNP	ENST00000251547.5	37	c.119T>C	CCDS132.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.577675	0.86645	.	.	ENSG00000132879	ENST00000251546;ENST00000425796;ENST00000376770;ENST00000376768;ENST00000251547;ENST00000376762;ENST00000376760	T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68	5.45	5.45	0.79879	F-box domain, cyclin-like (2);F-box domain, Skp2-like (1);	0.290724	0.32736	N	0.005708	T	0.77758	0.4178	H	0.95151	3.63	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.992	D	0.84873	0.0826	10	0.87932	D	0	-18.6926	14.6723	0.68953	0.0:0.0:0.0:1.0	.	40;40;40	B7Z1P2;Q9H4M3;Q9H4M3-2	.;FBX44_HUMAN;.	P	40	ENSP00000251546:L40P;ENSP00000389820:L40P;ENSP00000365961:L40P;ENSP00000365959:L40P;ENSP00000251547:L40P;ENSP00000365953:L40P;ENSP00000365951:L40P	ENSP00000251546:L40P	L	+	2	0	FBXO44	11638598	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.749000	0.62155	2.065000	0.61736	0.334000	0.21626	CTC		0.632	FBXO44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005761.1	NM_183412	
NFIA	4774	broad.mit.edu	37	1	61869812	61869812	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:61869812C>T	ENST00000403491.3	+	8	1596	c.1112C>T	c.(1111-1113)cCg>cTg	p.P371L	NFIA_ENST00000371189.4_Missense_Mutation_p.P416L|NFIA_ENST00000371185.2_Missense_Mutation_p.P349L|NFIA_ENST00000479364.1_3'UTR|NFIA_ENST00000485903.2_Missense_Mutation_p.P328L|NFIA_ENST00000371191.1_Missense_Mutation_p.P394L|NFIA_ENST00000407417.3_Missense_Mutation_p.P363L|NFIA_ENST00000357977.5_Missense_Mutation_p.P19L|NFIA_ENST00000371184.2_Missense_Mutation_p.P242L|NFIA_ENST00000371187.3_Missense_Mutation_p.P371L	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	371					DNA replication (GO:0006260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to organic cyclic compound (GO:0014070)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						CTTCATTTCCCGACATCACCC	0.493																																						uc010oos.2																		NFIA/EHF(2)	0				endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						c.(1246-1248)cCg>cTg		Homo sapiens nuclear factor I/A (NFIA), transcript variant 4, mRNA.							188.0	169.0	175.0					1																	61869812		2203	4300	6503	SO:0001583	missense	4774				DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:61869812C>T	U07809	CCDS615.1, CCDS44156.1, CCDS53322.1, CCDS53321.1	1p31.3-p31.2	2008-02-05			ENSG00000162599	ENSG00000162599			7784	protein-coding gene	gene with protein product		600727				7590749	Standard	NM_001134673		Approved	NFI-L, KIAA1439	uc010oos.2	Q12857	OTTHUMG00000008618	ENST00000403491.3:c.1112C>T	1.37:g.61869812C>T	ENSP00000384523:p.Pro371Leu					NFIA_uc001czy.3_Missense_Mutation_p.P363L|NFIA_uc001czw.3_Missense_Mutation_p.P371L|NFIA_uc001czv.3_Missense_Mutation_p.P371L|NFIA_uc001czx.3_Missense_Mutation_p.P19L|NFIA_uc009wae.3_5'Flank	p.P416L	NM_001145512	NP_001138984	Q12857	NFIA_HUMAN			8	1329	+			371					B4DRJ3|B4DS53|F5H0R0|F8W8W3|Q8TA97|Q9H3X9|Q9P2A9	Missense_Mutation	SNP	ENST00000403491.3	37	c.1247C>T	CCDS44156.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.190224	0.78789	.	.	ENSG00000162599	ENST00000371191;ENST00000407417;ENST00000371189;ENST00000403491;ENST00000485903;ENST00000371185;ENST00000371184;ENST00000371187	T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72	5.62	5.62	0.85841	.	0.051492	0.85682	D	0.000000	T	0.64746	0.2626	M	0.82716	2.605	0.80722	D	1	D;B;B;B;B	0.61080	0.989;0.16;0.097;0.097;0.221	P;B;B;B;B	0.50934	0.654;0.018;0.011;0.011;0.026	T	0.69347	-0.5169	10	0.56958	D	0.05	-12.5483	20.0274	0.97527	0.0:1.0:0.0:0.0	.	416;394;349;371;371	F8W8W3;B1AKN8;B1AKN5;Q12857;Q12857-2	.;.;.;NFIA_HUMAN;.	L	394;363;416;371;371;349;242;328	ENSP00000360233:P394L;ENSP00000384680:P363L;ENSP00000360231:P416L;ENSP00000384523:P371L;ENSP00000360227:P349L;ENSP00000360226:P242L	ENSP00000360226:P242L	P	+	2	0	NFIA	61642400	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.442000	0.80503	2.798000	0.96311	0.557000	0.71058	CCG		0.493	NFIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023799.3	NM_005595	
LRRC8C	84230	broad.mit.edu	37	1	90178321	90178321	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:90178321C>A	ENST00000370454.4	+	3	447	c.192C>A	c.(190-192)aaC>aaA	p.N64K	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	64					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		CTGCTCAGAACCACTCTTCCC	0.433																																						uc001dnl.4																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28						c.(190-192)aaC>aaA		Homo sapiens leucine rich repeat containing 8 family, member C (LRRC8C), mRNA.							92.0	89.0	90.0					1																	90178321		2203	4300	6503	SO:0001583	missense	84230					endoplasmic reticulum membrane|integral to membrane		g.chr1:90178321C>A		CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"""hypothetical protein AD158"""	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.192C>A	1.37:g.90178321C>A	ENSP00000359483:p.Asn64Lys						p.N64K	NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN		all cancers(265;0.00756)|Epithelial(280;0.0313)	2	434	+		all_lung(203;0.126)	64					B3KXS9|Q29RV6|Q9H075	Missense_Mutation	SNP	ENST00000370454.4	37	c.192C>A	CCDS725.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624648	0.66901	.	.	ENSG00000171488	ENST00000370454	T	0.24538	1.85	5.78	4.87	0.63330	Leucine-rich repeat-containing protein 8, N-terminal (1);	0.369273	0.34700	N	0.003746	T	0.08670	0.0215	N	0.14661	0.345	0.43133	D	0.994872	B	0.14012	0.009	B	0.22152	0.038	T	0.06570	-1.0819	10	0.51188	T	0.08	.	14.7584	0.69588	0.0:0.9308:0.0:0.0692	.	64	Q8TDW0	LRC8C_HUMAN	K	64	ENSP00000359483:N64K	ENSP00000359483:N64K	N	+	3	2	LRRC8C	89950909	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.205000	0.32308	1.448000	0.47680	0.655000	0.94253	AAC		0.433	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270	
FLG	2312	broad.mit.edu	37	1	152287099	152287099	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:152287099G>T	ENST00000368799.1	-	3	298	c.263C>A	c.(262-264)tCt>tAt	p.S88Y	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	88					establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTTCTGGTAGACTCATAATA	0.358									Ichthyosis																													uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(262-264)tCt>tAt		Homo sapiens filaggrin (FLG), mRNA.							135.0	131.0	132.0					1																	152287099		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152287099G>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.263C>A	1.37:g.152287099G>T	ENSP00000357789:p.Ser88Tyr					AK056431_uc001ezv.3_Splice_Site	p.S88Y	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	299	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		88					Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.263C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.336865	0.24253	.	.	ENSG00000143631	ENST00000368799	T	0.13307	2.6	5.09	-0.609	0.11608	EF-hand-like domain (1);	.	.	.	.	T	0.02455	0.0075	L	0.40543	1.245	0.09310	N	1	B	0.34290	0.447	B	0.32465	0.146	T	0.42344	-0.9457	9	0.07990	T	0.79	-0.2108	7.6961	0.28596	0.0808:0.0:0.341:0.5782	.	88	P20930	FILA_HUMAN	Y	88	ENSP00000357789:S88Y	ENSP00000357789:S88Y	S	-	2	0	FLG	150553723	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.299000	0.19138	0.024000	0.15214	0.585000	0.79938	TCT		0.358	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
PBXIP1	57326	broad.mit.edu	37	1	154918742	154918742	+	Silent	SNP	T	T	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:154918742T>G	ENST00000368463.3	-	10	1479	c.1408A>C	c.(1408-1410)Agg>Cgg	p.R470R	PBXIP1_ENST00000368465.1_Silent_p.R441R|PBXIP1_ENST00000542459.1_Silent_p.R315R|PBXIP1_ENST00000539880.1_Silent_p.R297R|PBXIP1_ENST00000498553.1_5'Flank	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	470					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTCCACTCCCTAGAATTCTGG	0.567																																						uc001ffr.3																			0				breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24						c.(1408-1410)Agg>Cgg		Homo sapiens pre-B-cell leukemia homeobox interacting protein 1 (PBXIP1), mRNA.							153.0	169.0	163.0					1																	154918742		2203	4300	6503	SO:0001819	synonymous_variant	57326				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity	g.chr1:154918742T>G	AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"""pre-B-cell leukemia transcription factor interacting protein 1"""			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.1408A>C	1.37:g.154918742T>G						PBXIP1_uc001ffs.3_Silent_p.R441R|PBXIP1_uc010pep.2_Silent_p.R315R	p.R470R	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		9	1467	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		470					Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	Silent	SNP	ENST00000368463.3	37	c.1408A>C	CCDS1074.1																																																																																				0.567	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090943.1	NM_020524	
SPTA1	6708	broad.mit.edu	37	1	158615169	158615169	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:158615169G>A	ENST00000368147.4	-	29	4183	c.4003C>T	c.(4003-4005)Cgt>Tgt	p.R1335C		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1335					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.R1335G(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATGTCAGCACGGTGCTCCTGT	0.488																																						uc001fst.1																			2	Substitution - Missense(2)	p.R1335G(4)	lung(2)	NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(4003-4005)Cgt>Tgt		Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.							62.0	61.0	61.0					1																	158615169		1907	4141	6048	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158615169G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4003C>T	1.37:g.158615169G>A	ENSP00000357129:p.Arg1335Cys						p.R1335C	NM_003126	NP_003117	P02549	SPTA1_HUMAN			28	4202	-	all_hematologic(112;0.0378)		1335					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.4003C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.973803	0.34848	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51574	0.7;0.7	5.06	0.976	0.19727	.	.	.	.	.	T	0.45736	0.1357	M	0.67700	2.07	0.28646	N	0.906934	D	0.89917	1.0	D	0.71184	0.972	T	0.21999	-1.0229	9	0.87932	D	0	.	5.1566	0.15038	0.3066:0.0:0.5608:0.1325	.	1335	P02549	SPTA1_HUMAN	C	1335	ENSP00000357130:R1335C;ENSP00000357129:R1335C	ENSP00000357129:R1335C	R	-	1	0	SPTA1	156881793	0.999000	0.42202	0.000000	0.03702	0.087000	0.18053	3.236000	0.51336	0.303000	0.22785	-0.142000	0.14014	CGT		0.488	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
PEX19	5824	broad.mit.edu	37	1	160250017	160250017	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:160250017C>T	ENST00000368072.5	-	6	635	c.614G>A	c.(613-615)aGt>aAt	p.S205N	PEX19_ENST00000532508.1_5'UTR|PEX19_ENST00000440949.3_Missense_Mutation_p.S115N|DCAF8_ENST00000556710.1_Missense_Mutation_p.S58N|DCAF8_ENST00000608310.1_Missense_Mutation_p.S58N	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1	P40855	PEX19_HUMAN	peroxisomal biogenesis factor 19	205					chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|establishment of protein localization to peroxisome (GO:0072663)|negative regulation of lipid binding (GO:1900131)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	ATPase binding (GO:0051117)|peroxisome membrane class-1 targeting sequence binding (GO:0036105)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTCCCGATGACTCTGCAACCA	0.418																																						uc010pjc.1																			0				cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						c.(172-174)aGt>aAt		Homo sapiens DDB1 and CUL4 associated factor 8 (DCAF8), transcript variant 1, mRNA.							137.0	136.0	136.0					1																	160250017		2203	4300	6503	SO:0001583	missense	50717					CUL4 RING ubiquitin ligase complex	protein binding	g.chr1:160250017C>T	Y09048	CCDS1201.1	1q22	2008-07-18	2004-03-17	2004-03-19	ENSG00000162735	ENSG00000162735			9713	protein-coding gene	gene with protein product	"""housekeeping gene, 33kD"""	600279	"""peroxisomal farnesylated protein"""	PXF		9339377, 10051604	Standard	NM_002857		Approved	HK33, D1S2223E, PMP1, PMPI, PXMP1		P40855	OTTHUMG00000033112	ENST00000368072.5:c.614G>A	1.37:g.160250017C>T	ENSP00000357051:p.Ser205Asn					DCAF8_uc001fvs.2_Missense_Mutation_p.S205N|DCAF8_uc021pbq.1_Missense_Mutation_p.S205N|DCAF8_uc010pje.1_Non-coding_Transcript|DCAF8_uc001fvt.2_Missense_Mutation_p.S115N	p.S58N	NM_015726	NP_056541	Q5TAQ9	DCAF8_HUMAN			3	445	-			142					D3DVE7|Q5QNY4|Q8NI97	Missense_Mutation	SNP	ENST00000368072.5	37	c.173G>A	CCDS1201.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.628239	0.46944	.	.	ENSG00000132716;ENSG00000258465;ENSG00000258465;ENSG00000162735;ENSG00000162735;ENSG00000162735;ENSG00000162735	ENST00000555195;ENST00000556710;ENST00000485079;ENST00000368072;ENST00000429425;ENST00000440949;ENST00000392220	T;T	0.63096	-0.02;-0.02	5.66	2.63	0.31362	.	0.390842	0.30134	N	0.010339	T	0.17831	0.0428	N	0.11560	0.145	0.32818	D	0.502398	B;B	0.30114	0.226;0.269	B;B	0.28139	0.086;0.055	T	0.03374	-1.1043	10	0.32370	T	0.25	3.4977	5.0365	0.14438	0.1332:0.4998:0.2889:0.0781	.	58;205	G3V3G9;P40855	.;PEX19_HUMAN	N	58;58;75;205;185;115;185	ENSP00000451989:S58N;ENSP00000451235:S58N	ENSP00000357051:S205N	S	-	2	0	RP11-574F21.3;PEX19;DCAF8	158516641	0.944000	0.32072	0.962000	0.40283	0.995000	0.86356	0.933000	0.28897	0.750000	0.32877	0.563000	0.77884	AGT		0.418	PEX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080642.2	NM_002857	
PAPPA2	60676	broad.mit.edu	37	1	176563773	176563773	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:176563773G>A	ENST00000367662.3	+	3	2197	c.1033G>A	c.(1033-1035)Gac>Aac	p.D345N	PAPPA2_ENST00000367661.3_Missense_Mutation_p.D345N	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	345					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCTCTGCACCGACCGCGTGAA	0.592																																						uc001gkz.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(1033-1035)Gac>Aac		Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.							58.0	60.0	60.0					1																	176563773		2091	4228	6319	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176563773G>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1033G>A	1.37:g.176563773G>A	ENSP00000356634:p.Asp345Asn					PAPPA2_uc001gky.1_Missense_Mutation_p.D345N|PAPPA2_uc009www.3_Non-coding_Transcript	p.D345N	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			2	2197	+			345					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.1033G>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.840763	0.91197	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.73681	-0.77;-0.77	5.45	5.45	0.79879	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.097857	0.64402	D	0.000002	D	0.85243	0.5652	M	0.64404	1.975	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.86028	0.1511	10	0.66056	D	0.02	-26.7584	18.8948	0.92419	0.0:0.0:1.0:0.0	.	345;345	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	N	345	ENSP00000356634:D345N;ENSP00000356633:D345N	ENSP00000356633:D345N	D	+	1	0	PAPPA2	174830396	1.000000	0.71417	0.995000	0.50966	0.680000	0.39746	9.689000	0.98673	2.555000	0.86185	0.650000	0.86243	GAC		0.592	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1		
ABL2	27	broad.mit.edu	37	1	179090932	179090932	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:179090932T>C	ENST00000502732.1	-	5	961	c.758A>G	c.(757-759)gAt>gGt	p.D253G	ABL2_ENST00000408940.3_Missense_Mutation_p.D217G|ABL2_ENST00000392043.3_Missense_Mutation_p.D232G|ABL2_ENST00000507173.1_Missense_Mutation_p.D232G|ABL2_ENST00000512653.1_Missense_Mutation_p.D238G|ABL2_ENST00000511413.1_Missense_Mutation_p.D253G|ABL2_ENST00000344730.3_Missense_Mutation_p.D238G|ABL2_ENST00000367623.4_Missense_Mutation_p.D232G|ABL2_ENST00000504405.1_Missense_Mutation_p.D217G	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	253	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CACCAGCCCATCAGCCACTGT	0.498			T	ETV6	AML																																	uc001gmj.4				Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		0				breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65						c.(757-759)gAt>gGt		Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						85.0	74.0	78.0					1																	179090932		2203	4300	6503	SO:0001583	missense	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179090932T>C	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.758A>G	1.37:g.179090932T>C	ENSP00000427562:p.Asp253Gly					ABL2_uc010pnf.2_Missense_Mutation_p.D253G|ABL2_uc010png.2_Missense_Mutation_p.D232G|ABL2_uc010pnh.2_Missense_Mutation_p.D232G|ABL2_uc009wxe.3_Missense_Mutation_p.D232G|ABL2_uc001gmg.4_Missense_Mutation_p.D238G|ABL2_uc001gmi.4_Missense_Mutation_p.D238G|ABL2_uc010pne.2_Missense_Mutation_p.D217G|ABL2_uc001gmk.3_Missense_Mutation_p.D217G|ABL2_uc009wxf.2_Missense_Mutation_p.D238G	p.D253G	NM_007314	NP_009298	P42684	ABL2_HUMAN			4	1045	-			253			SH2.		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Missense_Mutation	SNP	ENST00000502732.1	37	c.758A>G	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.620043	0.87460	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405;ENST00000367623;ENST00000507173;ENST00000511413;ENST00000392043	T;T;T;T;T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73;1.73;1.73;1.73;1.73	5.2	5.2	0.72013	SH2 motif (3);	0.000000	0.53938	D	0.000049	T	0.51329	0.1668	M	0.74467	2.265	0.80722	D	1	D;D;D;D;D;P;D;P;D;P;D	0.89917	0.995;0.958;0.958;0.958;0.958;0.796;0.958;0.93;1.0;0.93;0.958	D;P;P;P;P;P;P;P;D;P;P	0.91635	0.994;0.854;0.897;0.854;0.854;0.502;0.897;0.791;0.999;0.791;0.854	T	0.56269	-0.8007	10	0.87932	D	0	.	14.2342	0.65913	0.0:0.0:0.0:1.0	.	232;232;253;217;217;232;217;253;238;217;238	P42684-6;P42684-7;P42684-5;P42684-4;P42684-9;P42684-8;P42684-2;P42684;P42684-3;D1MPS6;P42684-10	.;.;.;.;.;.;.;ABL2_HUMAN;.;.;.	G	253;217;238;238;217;232;232;253;232	ENSP00000427562:D253G;ENSP00000386152:D217G;ENSP00000339209:D238G;ENSP00000423578:D238G;ENSP00000426831:D217G;ENSP00000356595:D232G;ENSP00000423413:D232G;ENSP00000424697:D253G;ENSP00000375897:D232G	ENSP00000339209:D238G	D	-	2	0	ABL2	177357555	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.963000	0.87922	1.958000	0.56883	0.533000	0.62120	GAT		0.498	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158	
IL10	3586	broad.mit.edu	37	1	206942020	206942020	+	Silent	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:206942020G>A	ENST00000423557.1	-	5	556	c.498C>T	c.(496-498)aaC>aaT	p.N166N	IL10_ENST00000471071.1_5'Flank	NM_000572.2	NP_000563.1	P22301	IL10_HUMAN	interleukin 10	166					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to lipopolysaccharide (GO:0071222)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|defense response to bacterium (GO:0042742)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|leukocyte chemotaxis (GO:0030595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of chronic inflammatory response to antigenic stimulus (GO:0002875)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interferon-alpha biosynthetic process (GO:0045355)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of myeloid dendritic cell activation (GO:0030886)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor biosynthetic process (GO:0032800)|regulation of gene expression (GO:0010468)|regulation of isotype switching (GO:0045191)|regulation of sensory perception of pain (GO:0051930)|response to activity (GO:0014823)|response to carbon monoxide (GO:0034465)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to inactivity (GO:0014854)|response to insulin (GO:0032868)|response to molecule of bacterial origin (GO:0002237)|type 2 immune response (GO:0042092)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|interleukin-10 receptor binding (GO:0005141)			endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			CTTCTATGTAGTTGATGAAGA	0.413																																						uc001hen.1																			0				endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12						c.(496-498)aaC>aaT		Homo sapiens interleukin 10 (IL10), mRNA.							146.0	125.0	132.0					1																	206942020		2203	4300	6503	SO:0001819	synonymous_variant	3586				anti-apoptosis|B cell differentiation|B cell proliferation|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response	extracellular space	cytokine activity|growth factor activity|interleukin-10 receptor binding	g.chr1:206942020G>A	M57627	CCDS1467.1	1q31-q32	2011-07-14			ENSG00000136634	ENSG00000136634		"""Interleukins and interleukin receptors"""	5962	protein-coding gene	gene with protein product	"""cytokine synthesis inhibitory factor"", ""T-cell growth inhibitory factor"""	124092				9162098	Standard	NM_000572		Approved	CSIF, TGIF, IL10A, IL-10	uc001hen.1	P22301	OTTHUMG00000036386	ENST00000423557.1:c.498C>T	1.37:g.206942020G>A							p.N166N	NM_000572	NP_000563	P22301	IL10_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.211)		4	557	-	Breast(84;0.183)		166						Silent	SNP	ENST00000423557.1	37	c.498C>T	CCDS1467.1																																																																																				0.413	IL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088564.3	NM_000572	
CD46	4179	broad.mit.edu	37	1	207930974	207930974	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:207930974A>G	ENST00000358170.2	+	3	532	c.376A>G	c.(376-378)Att>Gtt	p.I126V	CD46_ENST00000441839.2_Missense_Mutation_p.I126V|CD46_ENST00000322875.4_Missense_Mutation_p.I126V|CD46_ENST00000322918.5_Missense_Mutation_p.I126V|CD46_ENST00000367047.1_Missense_Mutation_p.I63V|CD46_ENST00000361067.1_Missense_Mutation_p.I126V|CD46_ENST00000367041.1_Missense_Mutation_p.I126V|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000480003.1_Missense_Mutation_p.I126V|CD46_ENST00000360212.2_Missense_Mutation_p.I126V|CD46_ENST00000357714.1_Missense_Mutation_p.I126V|CD46_ENST00000354848.1_Missense_Mutation_p.I126V|CD46_ENST00000367042.1_Missense_Mutation_p.I126V	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	126	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						GATGCACTTTATTTGTAATGA	0.363																																						uc001hgc.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						c.(376-378)Att>Gtt		Homo sapiens CD46 molecule, complement regulatory protein (CD46), transcript variant a, mRNA.							48.0	46.0	47.0					1																	207930974		2203	4300	6503	SO:0001583	missense	4179				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity	g.chr1:207930974A>G	BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"""CD molecules"", ""Complement system"""	6953	protein-coding gene	gene with protein product		120920	"""antigen identified by monoclonal antibody TRA-2-10"", ""membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)"", ""CD46 antigen, complement regulatory protein"""	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.376A>G	1.37:g.207930974A>G	ENSP00000350893:p.Ile126Val					CD46_uc001hgg.3_Missense_Mutation_p.I126V|CD46_uc001hgh.3_Missense_Mutation_p.I126V|CD46_uc001hgi.3_Missense_Mutation_p.I126V|CD46_uc001hgj.3_Missense_Mutation_p.I126V|CD46_uc001hgm.3_Missense_Mutation_p.I126V|CD46_uc001hgl.3_Missense_Mutation_p.I126V|CD46_uc001hgp.3_Missense_Mutation_p.I126V	p.I126V	NM_002389	NP_002380	P15529	MCP_HUMAN			2	551	+			126			Sushi 2.		A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	Missense_Mutation	SNP	ENST00000358170.2	37	c.376A>G	CCDS1485.1	.	.	.	.	.	.	.	.	.	.	A	0.079	-1.186464	0.01620	.	.	ENSG00000117335	ENST00000358170;ENST00000354848;ENST00000322918;ENST00000367042;ENST00000367041;ENST00000357714;ENST00000322875;ENST00000367047;ENST00000441839;ENST00000361067;ENST00000360212;ENST00000480003	T;T;T;T;T;T;T;T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06	4.07	-8.14	0.01069	Complement control module (2);Sushi/SCR/CCP (3);	3.049950	0.01216	N	0.007967	T	0.45296	0.1335	N	0.03115	-0.41	0.09310	N	1	B;B;B;B;B;P;B;B;B;B;B;P;P;P	0.40107	0.013;0.003;0.022;0.013;0.367;0.654;0.013;0.022;0.013;0.318;0.013;0.654;0.598;0.703	B;B;B;B;P;P;B;B;B;B;B;P;P;P	0.57720	0.014;0.001;0.017;0.014;0.549;0.733;0.023;0.017;0.014;0.09;0.014;0.714;0.643;0.826	T	0.51020	-0.8758	10	0.02654	T	1	.	5.4734	0.16682	0.2913:0.0:0.1474:0.5614	.	126;126;126;126;126;126;126;126;126;126;126;126;126;126	P15529-4;P15529-5;P15529-14;P15529-3;P15529-12;P15529-13;P15529-2;P15529-11;P15529-7;P15529-9;P15529-15;P15529-6;P15529-8;P15529	.;.;.;.;.;.;.;.;.;.;.;.;.;MCP_HUMAN	V	126;126;126;126;126;126;126;63;126;126;126;126	ENSP00000350893:I126V;ENSP00000346912:I126V;ENSP00000314664:I126V;ENSP00000356009:I126V;ENSP00000356008:I126V;ENSP00000350346:I126V;ENSP00000313875:I126V;ENSP00000356014:I63V;ENSP00000413543:I126V;ENSP00000354358:I126V;ENSP00000353342:I126V;ENSP00000418471:I126V	ENSP00000313875:I126V	I	+	1	0	CD46	205997597	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-3.598000	0.00419	-1.689000	0.01434	0.402000	0.26972	ATT		0.363	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088588.3	NM_172361	
CD46	4179	broad.mit.edu	37	1	207934671	207934671	+	Missense_Mutation	SNP	G	G	T	rs368070719		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:207934671G>T	ENST00000358170.2	+	5	709	c.553G>T	c.(553-555)Gat>Tat	p.D185Y	CD46_ENST00000441839.2_Missense_Mutation_p.D185Y|CD46_ENST00000322875.4_Missense_Mutation_p.D185Y|CD46_ENST00000322918.5_Missense_Mutation_p.D185Y|CD46_ENST00000367047.1_Missense_Mutation_p.D122Y|CD46_ENST00000361067.1_Missense_Mutation_p.D185Y|CD46_ENST00000367041.1_Missense_Mutation_p.D185Y|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000480003.1_Missense_Mutation_p.D185Y|CD46_ENST00000360212.2_Missense_Mutation_p.D185Y|CD46_ENST00000357714.1_Missense_Mutation_p.D185Y|CD46_ENST00000354848.1_Missense_Mutation_p.D185Y|CD46_ENST00000367042.1_Missense_Mutation_p.D185Y	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	185	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						TGAGTATCTTGATGCAGTAAC	0.373																																						uc001hgc.3																			0		p.D185G(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						c.(553-555)Gat>Tat		Homo sapiens CD46 molecule, complement regulatory protein (CD46), transcript variant a, mRNA.							137.0	118.0	125.0					1																	207934671		2203	4300	6503	SO:0001583	missense	4179				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity	g.chr1:207934671G>T	BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"""CD molecules"", ""Complement system"""	6953	protein-coding gene	gene with protein product		120920	"""antigen identified by monoclonal antibody TRA-2-10"", ""membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)"", ""CD46 antigen, complement regulatory protein"""	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.553G>T	1.37:g.207934671G>T	ENSP00000350893:p.Asp185Tyr					CD46_uc001hgg.3_Missense_Mutation_p.D185Y|CD46_uc001hgh.3_Missense_Mutation_p.D185Y|CD46_uc001hgi.3_Missense_Mutation_p.D185Y|CD46_uc001hgj.3_Missense_Mutation_p.D185Y|CD46_uc001hgm.3_Missense_Mutation_p.D185Y|CD46_uc001hgl.3_Missense_Mutation_p.D185Y|CD46_uc001hgp.3_Missense_Mutation_p.D185Y	p.D185Y	NM_002389	NP_002380	P15529	MCP_HUMAN			4	728	+			185			Sushi 3.		A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	Missense_Mutation	SNP	ENST00000358170.2	37	c.553G>T	CCDS1485.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.725572	0.48833	.	.	ENSG00000117335	ENST00000358170;ENST00000354848;ENST00000322918;ENST00000367042;ENST00000367041;ENST00000357714;ENST00000322875;ENST00000367047;ENST00000441839;ENST00000361067;ENST00000360212;ENST00000480003	T;T;T;T;T;T;T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	4.64	4.64	0.57946	Complement control module (2);Sushi/SCR/CCP (3);	0.440827	0.19163	N	0.121131	T	0.81049	0.4742	M	0.78344	2.41	0.09310	N	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.996;0.985;0.996;0.996;1.0;1.0;0.996;0.998;0.996;0.999;0.996;1.0;1.0;1.0	D;P;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.959;0.847;0.964;0.959;0.998;0.999;0.959;0.976;0.939;0.963;0.959;0.999;0.999;0.999	T	0.72453	-0.4289	10	0.72032	D	0.01	.	13.1862	0.59682	0.0:0.0:1.0:0.0	.	185;185;185;185;185;185;185;185;185;185;185;185;185;185	P15529-4;P15529-5;P15529-14;P15529-3;P15529-12;P15529-13;P15529-2;P15529-11;P15529-7;P15529-9;P15529-15;P15529-6;P15529-8;P15529	.;.;.;.;.;.;.;.;.;.;.;.;.;MCP_HUMAN	Y	185;185;185;185;185;185;185;122;185;185;185;185	ENSP00000350893:D185Y;ENSP00000346912:D185Y;ENSP00000314664:D185Y;ENSP00000356009:D185Y;ENSP00000356008:D185Y;ENSP00000350346:D185Y;ENSP00000313875:D185Y;ENSP00000356014:D122Y;ENSP00000413543:D185Y;ENSP00000354358:D185Y;ENSP00000353342:D185Y;ENSP00000418471:D185Y	ENSP00000313875:D185Y	D	+	1	0	CD46	206001294	0.226000	0.23696	0.024000	0.17045	0.033000	0.12548	3.053000	0.49901	2.562000	0.86427	0.585000	0.79938	GAT		0.373	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088588.3	NM_172361	
SVIL	6840	broad.mit.edu	37	10	29776136	29776136	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr10:29776136A>G	ENST00000355867.4	-	24	5193	c.4441T>C	c.(4441-4443)Ttc>Ctc	p.F1481L	SVIL_ENST00000375398.2_Missense_Mutation_p.F1481L|SVIL_ENST00000535393.1_Missense_Mutation_p.F395L|SVIL_ENST00000375400.3_Missense_Mutation_p.F1055L|SVIL_ENST00000538146.1_Missense_Mutation_p.F273L|PTCHD3P1_ENST00000413405.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1481	Interaction with NEB.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				ACCCACAGGAAGCAGCAGTGG	0.517																																						uc001iut.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(4441-4443)Ttc>Ctc		Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.							66.0	61.0	63.0					10																	29776136		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29776136A>G	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.4441T>C	10.37:g.29776136A>G	ENSP00000348128:p.Phe1481Leu					LOC387647_uc001iuq.1_Non-coding_Transcript|SVIL_uc010qdw.1_Missense_Mutation_p.F395L|SVIL_uc001iuu.1_Missense_Mutation_p.F1055L|SVIL_uc009xlc.2_Missense_Mutation_p.F273L	p.F1481L	NM_021738	NP_068506	O95425	SVIL_HUMAN			23	5194	-		Breast(68;0.103)	1481			Interaction with NEB.		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.4441T>C	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	A	34	5.403338	0.96051	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393;ENST00000535994;ENST00000538146	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	4.45	4.45	0.53987	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	T	0.51618	0.1685	M	0.83118	2.625	0.80722	D	1	P;P;P;P	0.45634	0.846;0.739;0.863;0.771	P;B;P;P	0.54026	0.452;0.387;0.729;0.74	T	0.59273	-0.7485	10	0.62326	D	0.03	-23.002	13.9553	0.64144	1.0:0.0:0.0:0.0	.	395;273;1055;1481	F5H2Q5;F5GXV0;O95425-2;O95425	.;.;.;SVIL_HUMAN	L	1055;1481;1481;395;435;273	ENSP00000364549:F1055L;ENSP00000364547:F1481L;ENSP00000348128:F1481L;ENSP00000445472:F395L;ENSP00000440343:F273L	ENSP00000348128:F1481L	F	-	1	0	SVIL	29816142	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.005000	0.93587	1.877000	0.54381	0.397000	0.26171	TTC		0.517	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1		
C10orf71	118461	broad.mit.edu	37	10	50532018	50532018	+	Silent	SNP	C	C	T	rs374214345		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr10:50532018C>T	ENST00000374144.3	+	3	1716	c.1428C>T	c.(1426-1428)aaC>aaT	p.N476N	C10orf71_ENST00000323868.4_Silent_p.N476N			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	476										endometrium(1)	1						GACAGCTAAACGGATACCAAG	0.572																																						uc021pqb.1																			0				endometrium(1)	1						c.(1426-1428)aaC>aaT		Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.		C	,	1,4147		0,1,2073	33.0	36.0	35.0		1428,1428	-11.1	0.1	10		35	1,8431		0,1,4215	no	coding-synonymous,coding-synonymous	C10orf71	NM_001135196.1,NM_199459.3	,	0,2,6288	TT,TC,CC		0.0119,0.0241,0.0159	,	476/1436,476/720	50532018	2,12578	2074	4216	6290	SO:0001819	synonymous_variant	118461							g.chr10:50532018C>T	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.1428C>T	10.37:g.50532018C>T						C10orf71_uc021pqa.1_Silent_p.N475N|C10orf71_uc021pqc.1_Silent_p.N476N	p.N476N	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN			0	1428	+			476					A0AVL8	Silent	SNP	ENST00000374144.3	37	c.1428C>T	CCDS44387.1																																																																																				0.572	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459	
PTEN	5728	broad.mit.edu	37	10	89717672	89717672	+	Nonsense_Mutation	SNP	C	C	T	rs121909219		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr10:89717672C>T	ENST00000371953.3	+	7	2054	c.697C>T	c.(697-699)Cga>Tga	p.R233*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	233	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R233*(77)|p.0?(37)|p.R55fs*1(5)|p.R233fs*10(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R233fs*25(1)|p.R233fs*23(1)|p.R233R(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGGACCCACACGACGGGAAGA	0.423	R233*(HEC59_ENDOMETRIUM)|R233*(JHUEM1_ENDOMETRIUM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3	R233*(HEC59_ENDOMETRIUM)|R233*(JHUEM1_ENDOMETRIUM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)	31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		133	Substitution - Nonsense(77)|Whole gene deletion(37)|Deletion - Frameshift(11)|Complex - frameshift(3)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)|Substitution - coding silent(1)	p.R233*(163)|p.0?(37)|p.R233fs*10(9)|p.R55fs*1(5)|p.R233fs*23(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.R233fs*12(2)|p.R233fs*20(2)|p.R233fs*25(2)|p.R233R(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*13(1)|p.(T232)fs(1)|p.T232fs*24(1)|p.G165_K342del(1)|p.T232fs*14(1)	endometrium(48)|central_nervous_system(21)|prostate(17)|haematopoietic_and_lymphoid_tissue(10)|lung(9)|large_intestine(6)|skin(6)|ovary(5)|cervix(3)|soft_tissue(3)|breast(3)|urinary_tract(2)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM971277	PTEN	M	rs121909219	c.(697-699)Cga>Tga		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							155.0	133.0	141.0					10																	89717672		2203	4300	6503	SO:0001587	stop_gained	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89717672C>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.697C>T	10.37:g.89717672C>T	ENSP00000361021:p.Arg233*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.R233*	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1729	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	233			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.697C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	48	14.428311	0.99795	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.15	0.533	0.17121	.	0.063428	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.2458	14.4841	0.67603	0.5413:0.4587:0.0:0.0	.	.	.	.	X	233	.	.	R	+	1	2	PTEN	89707652	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	1.280000	0.33202	0.512000	0.28257	0.585000	0.79938	CGA		0.423	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
MICAL2	9645	broad.mit.edu	37	11	12244171	12244171	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr11:12244171C>A	ENST00000256194.4	+	11	1618	c.1330C>A	c.(1330-1332)Ctc>Atc	p.L444I	MICAL2_ENST00000537344.1_Missense_Mutation_p.L444I|MICAL2_ENST00000527546.1_Missense_Mutation_p.L444I|MICAL2_ENST00000379612.3_Missense_Mutation_p.L444I|MICAL2_ENST00000342902.5_Missense_Mutation_p.L444I	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	444	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CAGGGAAAGTCTCTACCGGCT	0.567																																						uc001mjz.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47						c.(1330-1332)Ctc>Atc		Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.							76.0	62.0	67.0					11																	12244171		2201	4294	6495	SO:0001583	missense	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12244171C>A	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.1330C>A	11.37:g.12244171C>A	ENSP00000256194:p.Leu444Ile					MICAL2_uc010rch.1_Missense_Mutation_p.L444I|MICAL2_uc001mka.3_Missense_Mutation_p.L444I|MICAL2_uc010rci.2_Missense_Mutation_p.L444I|MICAL2_uc001mkb.3_Missense_Mutation_p.L444I|MICAL2_uc001mkc.3_Missense_Mutation_p.L444I|MICAL2_uc001mkd.3_Missense_Mutation_p.L273I|MICAL2_uc010rcj.2_5'UTR	p.L444I	NM_014632	NP_055447	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	10	1618	+			444					B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	c.1330C>A	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	C	6.700	0.497783	0.12762	.	.	ENSG00000133816	ENST00000537344;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27	4.98	4.98	0.66077	Calponin homology domain (1);	0.066172	0.56097	D	0.000024	T	0.30103	0.0754	N	0.03029	-0.43	0.47659	D	0.999485	B;B;B;B;B	0.14438	0.01;0.004;0.0;0.003;0.001	B;B;B;B;B	0.28991	0.097;0.045;0.01;0.014;0.01	T	0.26326	-1.0106	10	0.02654	T	1	.	11.4937	0.50396	0.2907:0.7093:0.0:0.0	.	444;444;444;444;444	G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;MICA2_HUMAN	I	444	ENSP00000441689:L444I;ENSP00000256194:L444I;ENSP00000433965:L444I;ENSP00000344894:L444I;ENSP00000368932:L444I	ENSP00000256194:L444I	L	+	1	0	MICAL2	12200747	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.387000	0.52501	2.746000	0.94184	0.655000	0.94253	CTC		0.567	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632	
OR5M10	390167	broad.mit.edu	37	11	56344526	56344526	+	Silent	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr11:56344526C>T	ENST00000526812.2	-	1	737	c.672G>A	c.(670-672)gcG>gcA	p.A224A		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						TCCTGAAGATCGCTGCAAAAA	0.443																																						uc001niz.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						c.(670-672)gcG>gcA		Homo sapiens olfactory receptor, family 5, subfamily M, member 10 (OR5M10), mRNA.							46.0	46.0	46.0					11																	56344526		1847	4077	5924	SO:0001819	synonymous_variant	390167				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56344526C>T	BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"""GPCR / Class A : Olfactory receptors"""	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.672G>A	11.37:g.56344526C>T						OR8U8_uc001nit.2_Intron	p.A224A	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN			0	672	-			224					B9EIL9	Silent	SNP	ENST00000526812.2	37	c.672G>A	CCDS53630.1																																																																																				0.443	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1	NM_001004741	
SLC22A10	387775	broad.mit.edu	37	11	63072232	63072232	+	Missense_Mutation	SNP	C	C	T	rs193006130	byFrequency	TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr11:63072232C>T	ENST00000332793.6	+	9	1471	c.1469C>T	c.(1468-1470)aCg>aTg	p.T490M	SLC22A10_ENST00000544661.1_3'UTR|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000525620.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	490						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	ATGACCTTAACGGTATTTTTT	0.423													C|||	6	0.00119808	0.0038	0.0014	5008	,	,		19278	0.0		0.0	False		,,,				2504	0.0					uc009yor.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1468-1470)aCg>aTg		Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.			MET/THR	13,3749		0,13,1868	169.0	153.0	158.0		1469	-5.4	0.0	11		158	0,8220		0,0,4110	yes	missense	SLC22A10	NM_001039752.3	81	0,13,5978	TT,TC,CC		0.0,0.3456,0.1085	benign	490/542	63072232	13,11969	1881	4110	5991	SO:0001583	missense	387775					integral to membrane	transmembrane transporter activity	g.chr11:63072232C>T	AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"""Solute carriers"""	18057	protein-coding gene	gene with protein product		607580	"""solute carrier family 22 (organic anion/cation transporter), member 10"""			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.1469C>T	11.37:g.63072232C>T	ENSP00000327569:p.Thr490Met					SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_3'UTR	p.T490M	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN			8	1677	+			490					Q68CJ0	Missense_Mutation	SNP	ENST00000332793.6	37	c.1469C>T	CCDS41661.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	c	4.965	0.179179	0.09443	0.003456	0.0	ENSG00000184999	ENST00000332793	T	0.72942	-0.7	2.72	-5.44	0.02624	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.775582	0.10861	N	0.626120	T	0.46210	0.1381	L	0.28556	0.865	0.09310	N	1	B	0.29646	0.253	B	0.26693	0.072	T	0.29058	-1.0024	10	0.41790	T	0.15	.	0.7522	0.00992	0.2564:0.1893:0.1275:0.4268	.	490	Q63ZE4	S22AA_HUMAN	M	490	ENSP00000327569:T490M	ENSP00000327569:T490M	T	+	2	0	SLC22A10	62828808	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-4.190000	0.00277	-1.515000	0.01784	-0.313000	0.08912	ACG		0.423	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382622.3	NM_001039752	
GRM5	2915	broad.mit.edu	37	11	88242179	88242179	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr11:88242179C>G	ENST00000305447.4	-	9	3369	c.3220G>C	c.(3220-3222)Gag>Cag	p.E1074Q	GRM5_ENST00000305432.5_Missense_Mutation_p.E1042Q|GRM5_ENST00000418177.2_Missense_Mutation_p.E1074Q|GRM5_ENST00000455756.2_Missense_Mutation_p.E1042Q|GRM5-AS1_ENST00000531994.1_RNA|GRM5-AS1_ENST00000526448.1_RNA|GRM5_ENST00000393297.1_Intron	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	1074					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	GAGTTGAGCTCGCTGATGTTG	0.667																																						uc001pcq.3																			0				NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(3220-3222)Gag>Cag		Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	Acamprosate(DB00659)						15.0	18.0	17.0					11																	88242179		2191	4281	6472	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88242179C>G	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.3220G>C	11.37:g.88242179C>G	ENSP00000306138:p.Glu1074Gln					GRM5_uc009yvm.3_Missense_Mutation_p.E1042Q	p.E1074Q	NM_001143831	NP_001137303	P41594	GRM5_HUMAN			8	3420	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	1074					Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.3220G>C	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	C	31	5.101005	0.94245	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447	D;D;D;D	0.92249	-2.84;-3.0;-3.0;-2.84	4.72	4.72	0.59763	.	0.057273	0.64402	D	0.000002	D	0.93000	0.7772	L	0.32530	0.975	0.47737	D	0.999503	D;D	0.67145	0.996;0.994	D;D	0.65874	0.939;0.934	D	0.92307	0.5854	9	.	.	.	.	17.6681	0.88209	0.0:1.0:0.0:0.0	.	1042;1074	P41594-2;P41594	.;GRM5_HUMAN	Q	1074;1042;1042;1074	ENSP00000402912:E1074Q;ENSP00000405690:E1042Q;ENSP00000305905:E1042Q;ENSP00000306138:E1074Q	.	E	-	1	0	GRM5	87881827	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.875000	0.75551	2.141000	0.66446	0.563000	0.77884	GAG		0.667	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842	
MAML2	84441	broad.mit.edu	37	11	96075000	96075000	+	Silent	SNP	C	C	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr11:96075000C>G	ENST00000524717.1	-	1	1344	c.60G>C	c.(58-60)gcG>gcC	p.A20A	MIR1260B_ENST00000582890.1_RNA	NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	20					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CAAGGAGCCCCGCCCCAGAGG	0.682			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid						OREG0021305	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001pfw.1				Dom	yes		11	11q22-q23	84441	T	mastermind-like 2 (Drosophila)			E	"""MECT1, CRTC3"""		salivary gland mucoepidermoid	CRTC3/MAML2(26)|CRTC1/MAML2(516)	0				breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43						c.(58-60)gcG>gcC		Homo sapiens mastermind-like 2 (Drosophila) (MAML2), mRNA.							6.0	7.0	6.0					11																	96075000		1778	3990	5768	SO:0001819	synonymous_variant	84441				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr11:96075000C>G	AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.60G>C	11.37:g.96075000C>G			OREG0021305	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1317		p.A20A	NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN			0	1345	-		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)	20					A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	ENST00000524717.1	37	c.60G>C	CCDS44714.1																																																																																				0.682	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1		
PGR	5241	broad.mit.edu	37	11	100996783	100996783	+	Missense_Mutation	SNP	G	G	A	rs144880156		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr11:100996783G>A	ENST00000325455.5	-	2	3197	c.1744C>T	c.(1744-1746)Ctt>Ttt	p.L582F	PGR_ENST00000263463.5_Missense_Mutation_p.L582F|PGR_ENST00000534013.1_5'UTR	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	582					cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	CCACAGGTAAGGACACCATAA	0.443																																					Pancreas(124;2271 2354 21954 22882)	uc001pgh.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36						c.(1744-1746)Ctt>Ttt		Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	G	PHE/LEU,PHE/LEU	0,4406		0,0,2203	104.0	89.0	94.0		1744,1252	5.4	1.0	11	dbSNP_134	94	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PGR	NM_000926.4,NM_001202474.1	22,22	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	582/934,418/770	100996783	1,13005	2203	4300	6503	SO:0001583	missense	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100996783G>A	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.1744C>T	11.37:g.100996783G>A	ENSP00000325120:p.Leu582Phe					PGR_uc001pgi.2_Missense_Mutation_p.L582F|PGR_uc009yww.1_Non-coding_Transcript|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript	p.L582F	NM_000926	NP_000917	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	1	2487	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	582					A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	c.1744C>T	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.136579	0.77662	0.0	1.16E-4	ENSG00000082175	ENST00000325455;ENST00000263463;ENST00000537623	D;D	0.96619	-4.07;-4.07	5.4	5.4	0.78164	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.97028	0.9029	L	0.37561	1.115	0.49051	D	0.999744	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.97796	1.0241	10	0.62326	D	0.03	.	19.1896	0.93660	0.0:0.0:1.0:0.0	.	582;582	Q8TDS3;P06401	.;PRGR_HUMAN	F	582	ENSP00000325120:L582F;ENSP00000263463:L582F	ENSP00000263463:L582F	L	-	1	0	PGR	100501993	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	5.522000	0.67092	2.519000	0.84933	0.655000	0.94253	CTT		0.443	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1		
ELMOD1	55531	broad.mit.edu	37	11	107501263	107501263	+	Silent	SNP	G	G	A	rs192561252		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr11:107501263G>A	ENST00000265840.7	+	3	403	c.138G>A	c.(136-138)ccG>ccA	p.P46P	ELMOD1_ENST00000443271.2_Silent_p.P46P|ELMOD1_ENST00000531234.1_Silent_p.P40P	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	46					phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)	cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		ATACCAAGCCGGGAGCTTCTA	0.398													G|||	1	0.000199681	0.0	0.0	5008	,	,		17984	0.0		0.001	False		,,,				2504	0.0					uc010rvs.2																			0		p.K45N(1)		endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19						c.(136-138)ccG>ccA		Homo sapiens ELMO/CED-12 domain containing 1 (ELMOD1), transcript variant 1, mRNA.		G	,	0,3708		0,0,1854	61.0	57.0	58.0		138,138	-8.4	1.0	11		58	5,8177		0,5,4086	no	coding-synonymous,coding-synonymous	ELMOD1	NM_001130037.1,NM_018712.3	,	0,5,5940	AA,AG,GG		0.0611,0.0,0.0421	,	46/327,46/335	107501263	5,11885	1854	4091	5945	SO:0001819	synonymous_variant	55531				phagocytosis	cytoskeleton	GTPase activator activity	g.chr11:107501263G>A	AL359601	CCDS44723.1, CCDS44724.1	11q23.1	2012-10-15	2006-01-20		ENSG00000110675	ENSG00000110675			25334	protein-coding gene	gene with protein product		615456	"""ELMO domain containing 1"""			12477932	Standard	NM_018712		Approved	DKFZp547C176	uc010rvs.2	Q8N336	OTTHUMG00000166361	ENST00000265840.7:c.138G>A	11.37:g.107501263G>A						ELMOD1_uc001pjm.3_Silent_p.P46P|ELMOD1_uc010rvt.2_Silent_p.P40P	p.P46P	NM_018712	NP_061182	Q8N336	ELMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)	2	542	+		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)	46					B4E167|G5E9S5|Q9NPW3	Silent	SNP	ENST00000265840.7	37	c.138G>A	CCDS44723.1																																																																																				0.398	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389406.1	NM_018712	
C11orf65	160140	broad.mit.edu	37	11	108302504	108302504	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr11:108302504C>T	ENST00000529391.1	-	2	152	c.143G>A	c.(142-144)cGt>cAt	p.R48H	C11orf65_ENST00000393084.1_Missense_Mutation_p.R48H|C11orf65_ENST00000525729.1_Intron			Q8NCR3	CK065_HUMAN	chromosome 11 open reading frame 65	48										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		CACTATCTGACGTGGTTCTCC	0.303																																						uc001pkh.3																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10						c.(142-144)cGt>cAt		Homo sapiens chromosome 11 open reading frame 65 (C11orf65), mRNA.							176.0	179.0	178.0					11																	108302504		2201	4295	6496	SO:0001583	missense	160140							g.chr11:108302504C>T	BC059411	CCDS8340.1	11q22.3	2012-05-30			ENSG00000166323	ENSG00000166323			28519	protein-coding gene	gene with protein product						12477932	Standard	NM_152587		Approved	MGC33948	uc001pkh.3	Q8NCR3	OTTHUMG00000166489	ENST00000529391.1:c.143G>A	11.37:g.108302504C>T	ENSP00000436400:p.Arg48His					C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.2_Non-coding_Transcript	p.R48H	NM_152587	NP_689800	Q8NCR3	CK065_HUMAN		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)	2	213	-		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	48					B4DZU4|Q6PCA8	Missense_Mutation	SNP	ENST00000529391.1	37	c.143G>A	CCDS8340.1	.	.	.	.	.	.	.	.	.	.	C	8.826	0.938717	0.18206	.	.	ENSG00000166323	ENST00000529391;ENST00000393084;ENST00000533583	T;T;T	0.31769	1.48;1.48;1.48	5.73	0.641	0.17759	.	0.231873	0.35970	N	0.002878	T	0.23727	0.0574	L	0.45581	1.43	0.32977	D	0.523195	B	0.12630	0.006	B	0.11329	0.006	T	0.15665	-1.0429	10	0.44086	T	0.13	-2.4624	8.7371	0.34534	0.0:0.6092:0.0:0.3908	.	48	Q8NCR3	CK065_HUMAN	H	48	ENSP00000436400:R48H;ENSP00000376799:R48H;ENSP00000434500:R48H	ENSP00000376799:R48H	R	-	2	0	C11orf65	107807714	0.045000	0.20229	0.969000	0.41365	0.292000	0.27327	-1.361000	0.02597	0.093000	0.17368	-0.827000	0.03088	CGT		0.303	C11orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390010.3	NM_152587	
NTF3	4908	broad.mit.edu	37	12	5603799	5603799	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr12:5603799C>T	ENST00000331010.6	+	1	502	c.419C>T	c.(418-420)gCg>gTg	p.A140V	NTF3_ENST00000535299.1_Intron|NTF3_ENST00000423158.3_Missense_Mutation_p.A153V	NM_002527.4	NP_002518.1	P20783	NTF3_HUMAN	neurotrophin 3	140					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell-cell signaling (GO:0007267)|enteric nervous system development (GO:0048484)|epidermis development (GO:0008544)|glial cell fate determination (GO:0007403)|induction of positive chemotaxis (GO:0050930)|mechanoreceptor differentiation (GO:0042490)|myelination (GO:0042552)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive chemotaxis (GO:0050918)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of synaptic transmission (GO:0050804)|signal transduction (GO:0007165)|smooth muscle cell differentiation (GO:0051145)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular region (GO:0005576)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						AAACGGTACGCGGAGCATAAG	0.602																																					GBM(194;1104 2182 8339 9578 18493)	uc001qnl.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						c.(418-420)gCg>gTg		Homo sapiens neurotrophin 3 (NTF3), transcript variant 2, mRNA.							89.0	84.0	86.0					12																	5603799		2203	4300	6503	SO:0001583	missense	4908				signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	g.chr12:5603799C>T		CCDS8538.1, CCDS44806.1	12p13	2014-01-30			ENSG00000185652	ENSG00000185652		"""Endogenous ligands"""	8023	protein-coding gene	gene with protein product		162660				1889806	Standard	NM_002527		Approved	NGF2	uc001qnk.4	P20783	OTTHUMG00000168649	ENST00000331010.6:c.419C>T	12.37:g.5603799C>T	ENSP00000328738:p.Ala140Val					NTF3_uc001qnk.4_Missense_Mutation_p.A153V	p.A140V	NM_002527	NP_002518	P20783	NTF3_HUMAN			0	502	+			140					B7Z1T5|Q6FH50	Missense_Mutation	SNP	ENST00000331010.6	37	c.419C>T	CCDS8538.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.082061	0.55861	.	.	ENSG00000185652	ENST00000423158;ENST00000331010	T;T	0.69435	-0.4;-0.4	5.52	5.52	0.82312	.	0.184965	0.47093	D	0.000259	T	0.72203	0.3431	M	0.86864	2.845	0.53005	D	0.999961	B;B	0.28208	0.203;0.203	B;B	0.17098	0.011;0.017	T	0.74303	-0.3709	10	0.72032	D	0.01	-11.2617	18.4188	0.90582	0.0:1.0:0.0:0.0	.	140;153	P20783;B7Z1T5	NTF3_HUMAN;.	V	153;140	ENSP00000397297:A153V;ENSP00000328738:A140V	ENSP00000328738:A140V	A	+	2	0	NTF3	5474060	0.976000	0.34144	0.997000	0.53966	0.961000	0.63080	4.946000	0.63576	2.610000	0.88304	0.591000	0.81541	GCG		0.602	NTF3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400486.1		
GNB3	2784	broad.mit.edu	37	12	6946946	6946946	+	5'Flank	SNP	T	T	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr12:6946946T>A	ENST00000229264.3	+	0	0				LEPREL2_ENST00000538102.1_RNA|LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000251761.8_RNA	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3						cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						CGCAGACAACTGCGTCCTGGA	0.642																																						uc001qra.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						c.(1759-1761)Tgc>Agc		Homo sapiens leprecan-like 2 (LEPREL2), mRNA.							33.0	41.0	38.0					12																	6946946		2113	4237	6350	SO:0001631	upstream_gene_variant	10536					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:6946946T>A		CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"""WD repeat domain containing"""	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517		12.37:g.6946946T>A	Exception_encountered					GPR162_uc001qrb.1_Missense_Mutation_p.C395S|GNB3_uc001qrc.3_5'Flank|GNB3_uc001qrd.3_5'Flank	p.C587S	NM_014262	NP_055077	Q16538	GP162_HUMAN			12	1793	+			0					Q96B71|Q9BQC0	Missense_Mutation	SNP	ENST00000229264.3	37	c.1759T>A	CCDS8564.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.841253	0.91197	.	.	ENSG00000110811	ENST00000396725;ENST00000290510	T;T	0.71698	-0.59;-0.59	4.69	4.69	0.59074	Oxoglutarate/iron-dependent oxygenase (1);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	D	0.84051	0.5387	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86694	0.1925	9	0.87932	D	0	-11.5414	14.3201	0.66479	0.0:0.0:0.0:1.0	.	588	Q8IVL6	P3H3_HUMAN	S	587;403	ENSP00000379951:C587S;ENSP00000290510:C403S	ENSP00000290510:C403S	C	+	1	0	LEPREL2	6817207	1.000000	0.71417	0.990000	0.47175	0.959000	0.62525	7.525000	0.81892	1.971000	0.57363	0.459000	0.35465	TGC		0.642	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1	NM_002075	
CCDC91	55297	broad.mit.edu	37	12	28459762	28459762	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr12:28459762G>A	ENST00000545336.1	+	8	774	c.355G>A	c.(355-357)Gtg>Atg	p.V119M	CCDC91_ENST00000306172.5_Missense_Mutation_p.V89M|CCDC91_ENST00000539107.1_Missense_Mutation_p.V119M|CCDC91_ENST00000381259.1_Missense_Mutation_p.V119M|CCDC91_ENST00000381256.1_Missense_Mutation_p.V119M|CCDC91_ENST00000540401.1_3'UTR			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	119					protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					AATTGCCCTTGTGGATGATTC	0.358																																						uc001riq.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22						c.(355-357)Gtg>Atg		Homo sapiens coiled-coil domain containing 91 (CCDC91), mRNA.							95.0	99.0	98.0					12																	28459762		2202	4300	6502	SO:0001583	missense	55297				protein transport	Golgi apparatus|membrane		g.chr12:28459762G>A	AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"""GGA binding partner"""					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.355G>A	12.37:g.28459762G>A	ENSP00000438040:p.Val119Met					CCDC91_uc001rio.3_Missense_Mutation_p.V89M|CCDC91_uc009zjk.3_Non-coding_Transcript|CCDC91_uc001rip.1_Missense_Mutation_p.V119M|CCDC91_uc009zjl.3_5'UTR	p.V119M	NM_018318	NP_060788	Q7Z6B0	CCD91_HUMAN			3	369	+	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)		119					B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Missense_Mutation	SNP	ENST00000545336.1	37	c.355G>A	CCDS8716.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.766198	0.49574	.	.	ENSG00000123106	ENST00000539107;ENST00000536442;ENST00000545336;ENST00000545737;ENST00000381259;ENST00000381256;ENST00000306172	T;T;T;T;T;T;T	0.31769	1.48;1.48;1.49;1.48;1.49;1.48;1.49	5.79	4.9	0.64082	.	0.626859	0.14866	N	0.293835	T	0.23171	0.0560	N	0.08118	0	0.22266	N	0.999243	P;B	0.47191	0.891;0.015	P;B	0.48141	0.568;0.022	T	0.07121	-1.0789	10	0.54805	T	0.06	-0.332	10.6785	0.45799	0.0879:0.0:0.9121:0.0	.	119;89	Q7Z6B0;Q7Z6B0-2	CCD91_HUMAN;.	M	119;119;119;119;119;119;89	ENSP00000440513:V119M;ENSP00000445660:V119M;ENSP00000438040:V119M;ENSP00000442544:V119M;ENSP00000370658:V119M;ENSP00000370655:V119M;ENSP00000305075:V89M	ENSP00000305075:V89M	V	+	1	0	CCDC91	28351029	0.995000	0.38212	0.975000	0.42487	0.990000	0.78478	3.720000	0.54933	1.441000	0.47550	0.650000	0.86243	GTG		0.358	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402447.1	NM_018318	
SP7	121340	broad.mit.edu	37	12	53722081	53722081	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr12:53722081C>G	ENST00000536324.2	-	3	1428	c.1145G>C	c.(1144-1146)gGt>gCt	p.G382A	SP7_ENST00000537210.2_Missense_Mutation_p.G364A|SP7_ENST00000303846.3_Missense_Mutation_p.G382A	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	382					hematopoietic stem cell differentiation (GO:0060218)|osteoblast differentiation (GO:0001649)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						GGGAGGGGGACCCGGGCCTGG	0.672											OREG0021867	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001sct.3																			0				cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						c.(1144-1146)gGt>gCt		Homo sapiens Sp7 transcription factor (SP7), transcript variant 2, mRNA.							27.0	33.0	31.0					12																	53722081		2017	4164	6181	SO:0001583	missense	121340				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:53722081C>G	AF477981	CCDS44897.1, CCDS73475.1	12q13.13	2013-01-08				ENSG00000170374		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	17321	protein-coding gene	gene with protein product		606633				11792318	Standard	NM_152860		Approved	osterix, OSX	uc001sct.3	Q8TDD2		ENST00000536324.2:c.1145G>C	12.37:g.53722081C>G	ENSP00000443827:p.Gly382Ala		OREG0021867	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	994	SP7_uc001scv.3_Missense_Mutation_p.G382A|SP7_uc001scu.3_Missense_Mutation_p.G364A	p.G382A	NM_152860	NP_690599	Q8TDD2	SP7_HUMAN			1	1252	-			382					B3KY26|Q3MJ72|Q7Z718	Missense_Mutation	SNP	ENST00000536324.2	37	c.1145G>C	CCDS44897.1	.	.	.	.	.	.	.	.	.	.	C	6.053	0.378029	0.11466	.	.	ENSG00000170374	ENST00000536324;ENST00000303846;ENST00000537210	T;T;T	0.07327	3.2;3.2;3.21	4.66	3.68	0.42216	.	0.162787	0.37577	N	0.002024	T	0.04497	0.0123	N	0.17379	0.485	0.09310	N	1	B	0.30914	0.3	B	0.23275	0.045	T	0.34625	-0.9821	10	0.41790	T	0.15	.	7.6306	0.28236	0.0:0.7383:0.1693:0.0924	.	382	Q8TDD2	SP7_HUMAN	A	382;382;364	ENSP00000443827:G382A;ENSP00000302812:G382A;ENSP00000441367:G364A	ENSP00000302812:G382A	G	-	2	0	SP7	52008348	0.256000	0.24012	0.106000	0.21319	0.194000	0.23727	3.266000	0.51569	2.509000	0.84616	0.561000	0.74099	GGT		0.672	SP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406917.1		
KSR2	283455	broad.mit.edu	37	12	117977618	117977618	+	Silent	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr12:117977618C>T	ENST00000339824.5	-	10	2320	c.1593G>A	c.(1591-1593)tcG>tcA	p.S531S	KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Silent_p.S228S|KSR2_ENST00000425217.1_Silent_p.S502S			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	531	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGGTGCTGGCGAGGAGGGCG	0.627																																						uc001two.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1504-1506)tcG>tcA		Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.							80.0	98.0	92.0					12																	117977618		2141	4233	6374	SO:0001819	synonymous_variant	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117977618C>T	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1593G>A	12.37:g.117977618C>T							p.S502S	NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN			9	1561	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		531					A0PJT2|Q3B828|Q8N775	Silent	SNP	ENST00000339824.5	37	c.1506G>A																																																																																					0.627	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598	
FLT1	2321	broad.mit.edu	37	13	28971149	28971149	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr13:28971149T>C	ENST00000282397.4	-	12	1859	c.1608A>G	c.(1606-1608)atA>atG	p.I536M	FLT1_ENST00000541932.1_Missense_Mutation_p.I536M	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	536	Ig-like C2-type 5.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TATTGGAAGCTATGCAAATGT	0.413																																						uc001usb.3																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(1606-1608)atA>atG		Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	Sunitinib(DB01268)						131.0	120.0	123.0					13																	28971149		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28971149T>C	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.1608A>G	13.37:g.28971149T>C	ENSP00000282397:p.Ile536Met					FLT1_uc010aar.1_Missense_Mutation_p.I536M|FLT1_uc001usc.3_Missense_Mutation_p.I536M|FLT1_uc010aas.1_Non-coding_Transcript|FLT1_uc010aat.1_Missense_Mutation_p.I19M	p.I536M	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	11	1893	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	536			Ig-like C2-type 5.		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.1608A>G	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	T	11.42	1.634457	0.29068	.	.	ENSG00000102755	ENST00000282397;ENST00000541932	T;T	0.36520	1.25;2.73	5.87	5.02	0.67125	Immunoglobulin subtype (1);Immunoglobulin-like (1);	0.424747	0.26931	N	0.021774	T	0.20047	0.0482	N	0.05383	-0.06	0.80722	D	1	B;B;B	0.11235	0.004;0.004;0.003	B;B;B	0.17722	0.019;0.019;0.007	T	0.05419	-1.0886	10	0.30078	T	0.28	.	11.3656	0.49671	0.0:0.8529:0.0:0.1471	.	536;536;536	P17948-3;P17948-2;P17948	.;.;VGFR1_HUMAN	M	536	ENSP00000282397:I536M;ENSP00000437631:I536M	ENSP00000282397:I536M	I	-	3	3	FLT1	27869149	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	1.904000	0.39868	1.463000	0.47967	-0.242000	0.12053	ATA		0.413	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1		
BRCA2	675	broad.mit.edu	37	13	32937431	32937431	+	Missense_Mutation	SNP	G	G	A	rs80359052		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr13:32937431G>A	ENST00000380152.3	+	18	8325	c.8092G>A	c.(8092-8094)Gca>Aca	p.A2698T	BRCA2_ENST00000544455.1_Missense_Mutation_p.A2698T			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2698					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.S2697fs*31(1)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TTCATTGAGCGCAAATATATC	0.378			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			G|||	0	0.0	0.0	0.0	5008	,	,		17595	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		1	Deletion - Frameshift(1)	p.S2697fs*31(2)	ovary(1)	NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(8092-8094)Gca>Aca	Homologous recombination	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.							102.0	100.0	101.0					13																	32937431		2203	4300	6503	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32937431G>A	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.8092G>A	13.37:g.32937431G>A	ENSP00000369497:p.Ala2698Thr	TCGA Ovarian(8;0.087)					p.A2698T	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	17	8319	+		Lung SC(185;0.0262)	2698					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.8092G>A	CCDS9344.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	0.016	-1.538764	0.00942	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.79845	-1.31;-1.31	5.38	2.97	0.34412	Nucleic acid-binding, OB-fold-like (1);BRCA2, oligonucleotide/oligosaccharide-binding 1 (1);	0.318221	0.34932	N	0.003566	T	0.41119	0.1145	N	0.00483	-1.445	0.09310	N	1	B	0.16802	0.019	B	0.06405	0.002	T	0.47935	-0.9078	10	0.02654	T	1	.	5.0883	0.14694	0.7144:0.0:0.1519:0.1337	.	2698	P51587	BRCA2_HUMAN	T	2698	ENSP00000369497:A2698T;ENSP00000439902:A2698T	ENSP00000369497:A2698T	A	+	1	0	BRCA2	31835431	0.000000	0.05858	0.006000	0.13384	0.360000	0.29518	-0.074000	0.11450	0.368000	0.24481	-0.373000	0.07131	GCA		0.378	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059	
RB1	5925	broad.mit.edu	37	13	48953730	48953730	+	Splice_Site	SNP	C	C	T	rs3092891	byFrequency	TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr13:48953730C>T	ENST00000267163.4	+	14	1471	c.1333C>T	c.(1333-1335)Cga>Tga	p.R445*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	445	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)|p.R445*(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TTGTTTGTAGCGATACAAACT	0.333		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.3		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		25	Whole gene deletion(15)|Unknown(8)|Substitution - Nonsense(2)	p.0?(15)|p.?(8)|p.R445*(2)	bone(11)|breast(5)|eye(3)|central_nervous_system(2)|adrenal_gland(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496	GRCh37	CM900192|CX011720	RB1	M|X	rs3092891	c.e14-1		Homo sapiens retinoblastoma 1 (RB1), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						18.0	19.0	19.0					13																	48953730		2200	4300	6500	SO:0001630	splice_region_variant	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48953730C>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1333-1C>T	13.37:g.48953730C>T		TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.R445_splice	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	14	1499	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	445			Domain A.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	c.1333_splice	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	38	7.075321	0.98048	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.74	4.88	0.63580	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7109	0.62667	0.3973:0.6027:0.0:0.0	rs3092891;rs3092891	.	.	.	X	424;445	.	.	R	+	1	2	RB1	47851731	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.278000	0.43426	1.383000	0.46405	0.557000	0.71058	CGA		0.333	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		Nonsense_Mutation
IPO5	3843	broad.mit.edu	37	13	98641352	98641352	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr13:98641352A>T	ENST00000490680.1	+	4	466	c.401A>T	c.(400-402)aAg>aTg	p.K134M	IPO5_ENST00000539640.1_Intron|IPO5_ENST00000261574.5_Missense_Mutation_p.K152M			O00410	IPO5_HUMAN	importin 5	134					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GAAGGTTTGAAGTTCCTTTTT	0.383																																						uc001vne.3																			0				breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						c.(454-456)aAg>aTg		Homo sapiens importin 5 (IPO5), mRNA.							93.0	94.0	94.0					13																	98641352		2203	4300	6503	SO:0001583	missense	3843				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	g.chr13:98641352A>T	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.401A>T	13.37:g.98641352A>T	ENSP00000418393:p.Lys134Met					IPO5_uc001vnf.1_Missense_Mutation_p.K134M|IPO5_uc010tik.1_Intron|IPO5_uc010til.1_Missense_Mutation_p.K74M	p.K152M	NM_002271	NP_002262	O00410	IPO5_HUMAN			6	635	+			134					B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	ENST00000490680.1	37	c.455A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	29.1|29.1	4.975581|4.975581	0.92919|0.92919	.|.	.|.	ENSG00000065150|ENSG00000065150	ENST00000261574;ENST00000357602;ENST00000475420;ENST00000480641;ENST00000490680;ENST00000389591;ENST00000403772;ENST00000473582|ENST00000469360	T;T;T;T;T;T;T|.	0.69175|.	-0.38;-0.38;-0.38;3.49;-0.38;-0.38;3.49|.	5.72|5.72	5.72|5.72	0.89469|0.89469	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71978|0.71978	0.3404|0.3404	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	D;D|.	0.69078|.	0.994;0.997|.	P;D|.	0.63597|.	0.885;0.916|.	T|T	0.70890|0.70890	-0.4749|-0.4749	10|5	0.59425|.	D|.	0.04|.	-2.9101|-2.9101	16.0023|16.0023	0.80306|0.80306	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	134;152|.	O00410;O00410-3|.	IPO5_HUMAN;.|.	M|C	152;134;134;74;134;107;105;115|136	ENSP00000261574:K152M;ENSP00000350219:K134M;ENSP00000420079:K134M;ENSP00000419003:K74M;ENSP00000418393:K134M;ENSP00000385938:K105M;ENSP00000420491:K115M|.	ENSP00000261574:K152M|.	K|S	+|+	2|1	0|0	IPO5|IPO5	97439353|97439353	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.004000|9.004000	0.93583|0.93583	2.177000|2.177000	0.69029|0.69029	0.533000|0.533000	0.62120|0.62120	AAG|AGT		0.383	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271	
SLC22A17	51310	broad.mit.edu	37	14	23820969	23820969	+	Silent	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr14:23820969G>A	ENST00000206544.8	-	2	699	c.363C>T	c.(361-363)ccC>ccT	p.P121P	SLC22A17_ENST00000354772.3_Silent_p.P121P|SLC22A17_ENST00000397260.3_Intron|SLC22A17_ENST00000474057.1_Intron|SLC22A17_ENST00000397267.1_Silent_p.P121P	NM_020372.2	NP_065105.2	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	121					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|vacuole (GO:0005773)	transmembrane signaling receptor activity (GO:0004888)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		ACCTGTCTGCGGGGTAACCCA	0.617																																						uc001wjl.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(361-363)ccC>ccT		Homo sapiens solute carrier family 22, member 17 (SLC22A17), transcript variant 1, mRNA.							53.0	49.0	50.0					14																	23820969		2203	4300	6503	SO:0001819	synonymous_variant	51310				siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity	g.chr14:23820969G>A	AJ243653	CCDS9593.1, CCDS9594.2	14q11.2	2013-05-22	2008-01-11		ENSG00000092096	ENSG00000092096		"""Solute carriers"""	23095	protein-coding gene	gene with protein product	"""neutrophil gelatinase-associated lipocalin receptor"""	611461				16377569	Standard	NM_016609		Approved	BOCT, BOIT, NGALR	uc001wjl.3	Q8WUG5	OTTHUMG00000028740	ENST00000206544.8:c.363C>T	14.37:g.23820969G>A						SLC22A17_uc010akk.3_5'UTR|SLC22A17_uc001wjm.3_Silent_p.P121P|SLC22A17_uc001wjn.3_Intron|SLC22A17_uc010akl.1_Silent_p.P121P	p.P121P	NM_020372	NP_065105	Q8WUG5	S22AH_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	1	600	-	all_cancers(95;7.12e-06)		121					A4UA13|A8MUT0|Q2TAB0|Q5BKY8|Q86U04|Q9H1D3|Q9NQD5	Silent	SNP	ENST00000206544.8	37	c.363C>T	CCDS9593.1																																																																																				0.617	SLC22A17-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157223.3	NM_020372	
FSCB	84075	broad.mit.edu	37	14	44975096	44975096	+	Silent	SNP	A	A	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr14:44975096A>G	ENST00000340446.4	-	1	1386	c.1095T>C	c.(1093-1095)gcT>gcC	p.A365A	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	365	Pro-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GCAGAATTTCAGCAGGAGGCT	0.493																																						uc001wvn.3																			0				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(1093-1095)gcT>gcC		Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.							85.0	99.0	95.0					14																	44975096		2200	4299	6499	SO:0001819	synonymous_variant	84075					cilium		g.chr14:44975096A>G	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1095T>C	14.37:g.44975096A>G							p.A365A	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	0	1404	-			365			Pro-rich.		Q5H9U7|Q86YI2|Q9H0J3	Silent	SNP	ENST00000340446.4	37	c.1095T>C	CCDS9679.1																																																																																				0.493	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135	
PCNX	22990	broad.mit.edu	37	14	71444226	71444226	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr14:71444226G>A	ENST00000304743.2	+	6	1618	c.1172G>A	c.(1171-1173)cGg>cAg	p.R391Q	PCNX_ENST00000238570.5_Missense_Mutation_p.R391Q|PCNX_ENST00000439984.3_Missense_Mutation_p.R391Q	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	391						integral component of membrane (GO:0016021)		p.R391P(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GGAACGGACCGGGACACTAAC	0.498																																						uc001xmo.2																			1	Substitution - Missense(1)	p.R391P(2)	lung(1)	NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(1171-1173)cGg>cAg		Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.							80.0	83.0	82.0					14																	71444226		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71444226G>A	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.1172G>A	14.37:g.71444226G>A	ENSP00000304192:p.Arg391Gln					PCNX_uc001xmn.4_Missense_Mutation_p.R391Q|PCNX_uc010are.1_Missense_Mutation_p.R391Q	p.R391Q	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	5	1618	+			391					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.1172G>A	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.396292	0.42512	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.15139	3.07;3.04;2.45	5.93	4.98	0.66077	.	0.000000	0.64402	D	0.000001	T	0.26304	0.0642	L	0.27053	0.805	0.58432	D	0.99999	D;D;D	0.89917	0.993;0.997;1.0	P;P;D	0.69307	0.531;0.665;0.963	T	0.01648	-1.1304	10	0.15499	T	0.54	.	16.6058	0.84828	0.0:0.1299:0.8701:0.0	.	391;391;391	B2RTR6;Q96RV3;Q96RV3-2	.;PCX1_HUMAN;.	Q	391	ENSP00000304192:R391Q;ENSP00000238570:R391Q;ENSP00000396617:R391Q	ENSP00000238570:R391Q	R	+	2	0	PCNX	70513979	1.000000	0.71417	0.965000	0.40720	0.120000	0.20174	7.329000	0.79170	2.816000	0.96949	0.650000	0.86243	CGG		0.498	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982	
ESRRB	2103	broad.mit.edu	37	14	76964704	76964704	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr14:76964704C>T	ENST00000509242.1	+	8	1303	c.1205C>T	c.(1204-1206)aCg>aTg	p.T402M	ESRRB_ENST00000261532.7_Missense_Mutation_p.T402M|RP11-187O7.3_ENST00000554926.1_lincRNA|ESRRB_ENST00000380887.2_Missense_Mutation_p.T402M|ESRRB_ENST00000556177.1_Missense_Mutation_p.T402M	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta	402					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|trophectodermal cell proliferation (GO:0001834)|trophectodermal cellular morphogenesis (GO:0001831)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CTGCGGCAGACGGCCGCCAAG	0.627																																						uc001xsr.3																			0				endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1204-1206)aCg>aTg		Homo sapiens estrogen-related receptor beta (ESRRB), mRNA.							14.0	16.0	15.0					14																	76964704		2162	4231	6393	SO:0001583	missense	2103					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr14:76964704C>T	X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715		"""Nuclear hormone receptors"""	3473	protein-coding gene	gene with protein product		602167	"""deafness, autosomal recessive 35"""	ESRL2, DFNB35		3267207, 9344655, 18179891	Standard	NM_004452		Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718		ENST00000509242.1:c.1205C>T	14.37:g.76964704C>T	ENSP00000422488:p.Thr402Met					ESRRB_uc001xso.3_Non-coding_Transcript|ESRRB_uc001xsq.1_Missense_Mutation_p.T402M	p.T402M	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0213)	8	1576	+			402					A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Missense_Mutation	SNP	ENST00000509242.1	37	c.1205C>T	CCDS9850.2	.	.	.	.	.	.	.	.	.	.	C	17.77	3.470157	0.63625	.	.	ENSG00000119715	ENST00000512784;ENST00000509242;ENST00000556177;ENST00000380887;ENST00000261532	T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.61652	0.2364	L	0.47016	1.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.985;0.99	T	0.51849	-0.8653	10	0.13470	T	0.59	.	19.5447	0.95287	0.0:1.0:0.0:0.0	.	402;407	Q5F0P7;E7EWD9	.;.	M	407;402;402;402;402	ENSP00000424992:T407M;ENSP00000422488:T402M;ENSP00000451658:T402M;ENSP00000370270:T402M;ENSP00000261532:T402M	ENSP00000261532:T402M	T	+	2	0	ESRRB	76034457	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.611000	0.88343	0.561000	0.74099	ACG		0.627	ESRRB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360663.1		
BCL11B	64919	broad.mit.edu	37	14	99640778	99640778	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr14:99640778C>T	ENST00000357195.3	-	4	2404	c.2395G>A	c.(2395-2397)Gag>Aag	p.E799K	BCL11B_ENST00000443726.2_Missense_Mutation_p.E605K|BCL11B_ENST00000345514.2_Missense_Mutation_p.E728K	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	799					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CCGCAGTACTCGCACGTGTCG	0.721			T	TLX3	T-ALL																																	uc001yga.3				Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34						c.(2395-2397)Gag>Aag		Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.							26.0	23.0	24.0					14																	99640778		2201	4297	6498	SO:0001583	missense	64919					nucleus	zinc ion binding	g.chr14:99640778C>T	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.2395G>A	14.37:g.99640778C>T	ENSP00000349723:p.Glu799Lys					BCL11B_uc001ygb.3_Missense_Mutation_p.E728K	p.E799K	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	3	2662	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	799					Q9H162	Missense_Mutation	SNP	ENST00000357195.3	37	c.2395G>A	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.718539	0.89205	.	.	ENSG00000127152	ENST00000357195;ENST00000345514;ENST00000443726	T;T;T	0.07216	3.21;3.21;3.21	4.3	4.3	0.51218	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.259980	0.30639	N	0.009195	T	0.28896	0.0717	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.04360	-1.0957	10	0.56958	D	0.05	-15.5178	17.1335	0.86733	0.0:1.0:0.0:0.0	.	728;799	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	K	799;728;605	ENSP00000349723:E799K;ENSP00000280435:E728K;ENSP00000387419:E605K	ENSP00000280435:E728K	E	-	1	0	BCL11B	98710531	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.332000	0.79203	2.118000	0.64928	0.561000	0.74099	GAG		0.721	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576	
RMDN3	55177	broad.mit.edu	37	15	41046948	41046948	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr15:41046948C>T	ENST00000260385.6	-	1	1101	c.34G>A	c.(34-36)Gcc>Acc	p.A12T	RMDN3_ENST00000338376.3_Missense_Mutation_p.A12T|RMDN3_ENST00000558560.1_5'Flank			Q96TC7	RMD3_HUMAN	regulator of microtubule dynamics 3	12					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)	integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											CCCAGCCCGGCACGGGCACCA	0.687																																						uc001zmp.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						c.(34-36)Gcc>Acc		Homo sapiens family with sequence similarity 82, member A2 (FAM82A2), mRNA.							26.0	28.0	27.0					15																	41046948		2201	4297	6498	SO:0001583	missense	55177				apoptosis|cell differentiation	integral to membrane|microtubule|mitochondrial membrane|nucleus|spindle pole	protein binding	g.chr15:41046948C>T	AK001441	CCDS10063.1	15q15.1	2013-01-11	2013-01-11	2013-01-11	ENSG00000137824	ENSG00000137824			25550	protein-coding gene	gene with protein product		611873	"""family with sequence similarity 82, member A2"""	FAM82C, FAM82A2		12975309	Standard	XM_005254531		Approved	FLJ10579, PTPIP51, RMD3	uc001zmp.1	Q96TC7	OTTHUMG00000130066	ENST00000260385.6:c.34G>A	15.37:g.41046948C>T	ENSP00000260385:p.Ala12Thr					FAM82A2_uc001zmo.1_Missense_Mutation_p.A12T|FAM82A2_uc001zmq.1_Missense_Mutation_p.A12T	p.A12T	NM_018145	NP_060615	Q96TC7	RMD3_HUMAN			1	219	-			12					A9UMZ9|B3KRR3|Q6ZWE9|Q96H23|Q96SD6|Q9H6G1|Q9NVQ6	Missense_Mutation	SNP	ENST00000260385.6	37	c.34G>A	CCDS10063.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.924096	0.52653	.	.	ENSG00000137824	ENST00000260385;ENST00000338376	T;T	0.31510	1.49;1.49	5.58	0.315	0.15852	.	0.729320	0.13088	N	0.414755	T	0.16385	0.0394	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.20874	-1.0262	10	0.29301	T	0.29	-3.2045	4.7725	0.13162	0.3143:0.4911:0.0:0.1947	.	12	Q96TC7	RMD3_HUMAN	T	12	ENSP00000260385:A12T;ENSP00000342493:A12T	ENSP00000260385:A12T	A	-	1	0	FAM82A2	38834240	0.844000	0.29557	0.142000	0.22268	0.887000	0.51463	0.804000	0.27098	0.282000	0.22254	0.650000	0.86243	GCC		0.687	RMDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252357.1	NM_018145	
SPINT1	6692	broad.mit.edu	37	15	41146113	41146113	+	Missense_Mutation	SNP	C	C	T	rs145193299		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr15:41146113C>T	ENST00000344051.4	+	5	1181	c.947C>T	c.(946-948)gCg>gTg	p.A316V	SPINT1_ENST00000562057.1_Intron|SPINT1_ENST00000431806.1_Intron			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	316					branching involved in labyrinthine layer morphogenesis (GO:0060670)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|placenta blood vessel development (GO:0060674)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GGGGCTCAGGCGACTTTCCCC	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		14296	0.0		0.0	False		,,,				2504	0.001					uc001zna.3																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16						c.(946-948)gCg>gTg		Homo sapiens serine peptidase inhibitor, Kunitz type 1 (SPINT1), transcript variant 1, mRNA.		C	,,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	88.0	99.0	96.0		,,947	-2.4	0.0	15	dbSNP_134	96	4,8596	3.7+/-12.6	0,4,4296	yes	intron,intron,missense	SPINT1	NM_001032367.1,NM_003710.3,NM_181642.2	,,64	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	,,	,,316/530	41146113	5,13001	2203	4300	6503	SO:0001583	missense	6692					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity	g.chr15:41146113C>T		CCDS10067.1, CCDS45231.1	15q13.3	2008-02-05	2005-08-17		ENSG00000166145	ENSG00000166145			11246	protein-coding gene	gene with protein product		605123	"""serine protease inhibitor, Kunitz type 1"""				Standard	XM_006720657		Approved	HAI, MANSC2	uc001zna.3	O43278	OTTHUMG00000130068	ENST00000344051.4:c.947C>T	15.37:g.41146113C>T	ENSP00000342098:p.Ala316Val					SPINT1_uc001znb.3_Intron|SPINT1_uc001znc.3_Intron|SPINT1_uc010ucs.2_Missense_Mutation_p.A316V	p.A316V	NM_181642	NP_857593	O43278	SPIT1_HUMAN		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)	4	1151	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	316					Q7Z7D2	Missense_Mutation	SNP	ENST00000344051.4	37	c.947C>T	CCDS10067.1	.	.	.	.	.	.	.	.	.	.	C	9.646	1.140218	0.21205	2.27E-4	4.65E-4	ENSG00000166145	ENST00000344051;ENST00000536281	D	0.95447	-3.71	3.63	-2.36	0.06663	.	1.553590	0.03603	N	0.233774	D	0.86335	0.5908	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.76971	-0.2761	10	0.26408	T	0.33	-1.0835	1.5857	0.02644	0.1618:0.3922:0.1649:0.2811	.	316	O43278	SPIT1_HUMAN	V	316;283	ENSP00000342098:A316V	ENSP00000342098:A316V	A	+	2	0	SPINT1	38933405	0.000000	0.05858	0.000000	0.03702	0.627000	0.37826	-0.482000	0.06544	-0.420000	0.07427	-0.253000	0.11424	GCG		0.592	SPINT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252359.2	NM_003710	
TP53BP1	7158	broad.mit.edu	37	15	43748820	43748820	+	Silent	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr15:43748820C>T	ENST00000263801.3	-	12	2223	c.1971G>A	c.(1969-1971)gaG>gaA	p.E657E	TP53BP1_ENST00000450115.2_Silent_p.E662E|TP53BP1_ENST00000382044.4_Silent_p.E662E|TP53BP1_ENST00000605155.1_5'Flank|TP53BP1_ENST00000382039.3_Silent_p.E662E	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	657					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CTGAAGACCCCTCCTCTGGAT	0.483								Other conserved DNA damage response genes																														uc001zrs.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(1969-1971)gaG>gaA	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.							94.0	99.0	97.0					15																	43748820		2201	4298	6499	SO:0001819	synonymous_variant	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43748820C>T	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.1971G>A	15.37:g.43748820C>T						TP53BP1_uc010udp.2_Silent_p.E657E|TP53BP1_uc001zrq.4_Silent_p.E662E|TP53BP1_uc001zrr.4_Silent_p.E662E|TP53BP1_uc010udq.1_Silent_p.E662E	p.E657E	NM_005657	NP_005648	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	11	2119	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	657					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Silent	SNP	ENST00000263801.3	37	c.1971G>A	CCDS10096.1																																																																																				0.483	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3		
ADAMTS18	170692	broad.mit.edu	37	16	77401546	77401546	+	Missense_Mutation	SNP	G	G	T	rs373069226		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr16:77401546G>T	ENST00000282849.5	-	4	988	c.570C>A	c.(568-570)aaC>aaA	p.N190K	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	190					eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GGGAGCTGTAGTTGTGTTCCT	0.502																																						uc002ffc.4																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(568-570)aaC>aaA		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.							119.0	106.0	110.0					16																	77401546		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77401546G>T	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.570C>A	16.37:g.77401546G>T	ENSP00000282849:p.Asn190Lys					ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_Non-coding_Transcript	p.N190K	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN			3	989	-			190					Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.570C>A	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	G	31	5.080999	0.94050	.	.	ENSG00000140873	ENST00000282849;ENST00000449265	T;T	0.04970	3.52;3.52	4.72	4.72	0.59763	Peptidase M12B, propeptide (1);	0.048853	0.85682	D	0.000000	T	0.13586	0.0329	L	0.59436	1.845	0.58432	D	0.999998	B	0.29341	0.242	B	0.40329	0.326	T	0.04454	-1.0950	10	0.45353	T	0.12	.	16.8505	0.85992	0.0:0.0:1.0:0.0	.	190	Q8TE60	ATS18_HUMAN	K	190	ENSP00000282849:N190K;ENSP00000392540:N190K	ENSP00000282849:N190K	N	-	3	2	ADAMTS18	75959047	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.445000	0.80570	2.446000	0.82766	0.555000	0.69702	AAC		0.502	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1		
OR1E2	8388	broad.mit.edu	37	17	3336801	3336801	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr17:3336801C>T	ENST00000248384.1	-	1	334	c.335G>A	c.(334-336)aGc>aAc	p.S112N		NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E, member 2	112					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)			endometrium(3)|large_intestine(3)|lung(3)	9						AAGGAGGAAGCTCTCTAGATC	0.522																																						uc010vre.2																			0				endometrium(3)|large_intestine(3)|lung(3)	9						c.(334-336)aGc>aAc		Homo sapiens olfactory receptor, family 1, subfamily E, member 2 (OR1E2), mRNA.							98.0	81.0	86.0					17																	3336801		2203	4300	6503	SO:0001583	missense	8388				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr17:3336801C>T	U04686	CCDS11026.1	17p13.3	2012-08-09			ENSG00000127780	ENSG00000127780		"""GPCR / Class A : Olfactory receptors"""	8190	protein-coding gene	gene with protein product				OR1E4		8004088, 9500546	Standard	NM_003554		Approved	OR17-93, OR17-135	uc010vre.2	P47887	OTTHUMG00000090651	ENST00000248384.1:c.335G>A	17.37:g.3336801C>T	ENSP00000248384:p.Ser112Asn						p.S112N	NM_003554	NP_003545	P47887	OR1E2_HUMAN			0	335	-			112					O43877|O95632|Q0VAD5|Q0VAD6|Q9UL13	Missense_Mutation	SNP	ENST00000248384.1	37	c.335G>A	CCDS11026.1	.	.	.	.	.	.	.	.	.	.	C	1.153	-0.646177	0.03531	.	.	ENSG00000127780	ENST00000248384;ENST00000454364	T	0.00344	8.02	5.47	3.38	0.38709	GPCR, rhodopsin-like superfamily (1);	0.455052	0.24178	N	0.040838	T	0.00109	0.0003	N	0.16368	0.405	0.09310	N	1	B	0.12013	0.005	B	0.12837	0.008	T	0.41822	-0.9487	10	0.02654	T	1	.	3.2868	0.06935	0.2026:0.5615:0.0:0.2359	.	112	P47887	OR1E2_HUMAN	N	112;111	ENSP00000248384:S112N	ENSP00000248384:S112N	S	-	2	0	OR1E2	3283551	0.000000	0.05858	1.000000	0.80357	0.133000	0.20885	-1.291000	0.02775	1.545000	0.49373	0.650000	0.86243	AGC		0.522	OR1E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207311.1		
TRPV1	7442	broad.mit.edu	37	17	3486725	3486725	+	Splice_Site	SNP	C	C	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr17:3486725C>G	ENST00000571088.1	-	9	1597		c.e9-1		TRPV1_ENST00000174621.6_Splice_Site|SHPK_ENST00000572705.1_Splice_Site|TRPV1_ENST00000399759.3_Splice_Site|TRPV1_ENST00000399756.4_Splice_Site|TRPV1_ENST00000310522.5_Splice_Site|TRPV1_ENST00000425167.2_Splice_Site|TRPV1_ENST00000576351.1_Splice_Site	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1						calcium ion transmembrane transport (GO:0070588)|cell surface receptor signaling pathway (GO:0007166)|cellular response to alkaloid (GO:0071312)|cellular response to ATP (GO:0071318)|chemosensory behavior (GO:0007635)|ion transmembrane transport (GO:0034220)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|calcium-release channel activity (GO:0015278)|excitatory extracellular ligand-gated ion channel activity (GO:0005231)|phosphoprotein binding (GO:0051219)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	TAAAGGGAGGCTGTGAGATGC	0.473																																					Melanoma(38;962 1762 15789)	uc010vro.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.e9-1		Homo sapiens transient receptor potential cation channel, subfamily V, member 1 (TRPV1), transcript variant 3, mRNA.	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)						58.0	54.0	55.0					17																	3486725		1940	4154	6094	SO:0001630	splice_region_variant	7442				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding	g.chr17:3486725C>G	AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12716	protein-coding gene	gene with protein product		602076	"""vanilloid receptor subtype 1"""	VR1		9349813, 11549313, 16382100	Standard	NM_018727		Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000571088.1:c.1384-1G>C	17.37:g.3486725C>G						TRPV1_uc010vrp.2_Splice_Site_p.P402_splice|TRPV1_uc010vrq.2_Splice_Site_p.P460_splice|TRPV1_uc010vrr.2_Splice_Site_p.P462_splice|TRPV1_uc010vrs.2_Splice_Site_p.P462_splice|TRPV1_uc010vrt.2_Splice_Site_p.P462_splice|TRPV1_uc010vru.2_Splice_Site_p.P462_splice	p.P473_splice	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN		Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	9	1450	-			462					A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Splice_Site	SNP	ENST00000571088.1	37	c.1417_splice	CCDS45576.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.087647	0.55968	.	.	ENSG00000196689	ENST00000399759;ENST00000399756;ENST00000174621;ENST00000425167;ENST00000310522	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9437	0.89032	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRPV1	3433474	1.000000	0.71417	1.000000	0.80357	0.562000	0.35680	6.850000	0.75420	2.567000	0.86603	0.655000	0.94253	.		0.473	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438254.1	NM_018727	Intron
PLXDC1	57125	broad.mit.edu	37	17	37295949	37295949	+	Silent	SNP	G	G	T	rs371702899		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr17:37295949G>T	ENST00000315392.4	-	2	424	c.213C>A	c.(211-213)acC>acA	p.T71T	PLXDC1_ENST00000539608.1_5'UTR|PLXDC1_ENST00000444911.2_Intron|PLXDC1_ENST00000394316.2_Silent_p.T71T	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	71					angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)			kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						CCATGGCCAGGGTGCCCCCAC	0.672													G|||	1	0.000199681	0.0	0.0	5008	,	,		15547	0.0		0.0	False		,,,				2504	0.001					uc002hrg.2																			0				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(211-213)acC>acA		Homo sapiens plexin domain containing 1 (PLXDC1), mRNA.							56.0	50.0	52.0					17																	37295949		2203	4300	6503	SO:0001819	synonymous_variant	57125				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction		g.chr17:37295949G>T	AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"""tumor endothelial marker 7 precursor"""	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.213C>A	17.37:g.37295949G>T						PLXDC1_uc002hrh.2_Non-coding_Transcript|PLXDC1_uc002hri.2_Non-coding_Transcript|PLXDC1_uc002hrj.1_Non-coding_Transcript|PLXDC1_uc002hrk.1_Non-coding_Transcript	p.T71T	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN			1	425	-			71					B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Silent	SNP	ENST00000315392.4	37	c.213C>A	CCDS11333.1																																																																																				0.672	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256892.2	NM_020405	
KRT13	3860	broad.mit.edu	37	17	39661434	39661434	+	Silent	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr17:39661434G>A	ENST00000246635.3	-	1	415	c.369C>T	c.(367-369)cgC>cgT	p.R123R	KRT13_ENST00000587118.1_5'Flank|AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000587544.1_Silent_p.R123R|KRT13_ENST00000336861.3_Silent_p.R123R	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	123	Coil 1A.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				CCTCCAGGGCGCGCACCTTCT	0.597																																						uc002hwu.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33						c.(367-369)cgC>cgT		Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA.							138.0	133.0	135.0					17																	39661434		2203	4300	6503	SO:0001819	synonymous_variant	3860				epidermis development	intermediate filament	structural molecule activity	g.chr17:39661434G>A		CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6415	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 13"", ""cytokeratin 13"""	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.369C>T	17.37:g.39661434G>A						KRT13_uc002hwv.1_Silent_p.R123R|KRT13_uc010wfr.2_Silent_p.R16R|KRT13_uc010cxo.3_Silent_p.R123R|KRT13_uc021txk.1_Silent_p.R16R	p.R123R	NM_153490	NP_705694	P13646	K1C13_HUMAN			0	432	-		Breast(137;0.000286)	123			Coil 1A.|Rod.		Q53G54|Q6AZK5|Q8N240	Silent	SNP	ENST00000246635.3	37	c.369C>T	CCDS11396.1																																																																																				0.597	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490	
HLF	3131	broad.mit.edu	37	17	53398080	53398080	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr17:53398080G>A	ENST00000226067.5	+	4	1201	c.728G>A	c.(727-729)cGc>cAc	p.R243H	HLF_ENST00000575307.1_3'UTR|HLF_ENST00000575345.1_Missense_Mutation_p.R158H|HLF_ENST00000430986.2_Missense_Mutation_p.R158H|HLF_ENST00000573945.1_Missense_Mutation_p.R158H	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor	243	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				multicellular organismal development (GO:0007275)|rhythmic process (GO:0048511)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|ovary(2)	3						AAGCGCTCCCGCGACGCCCGG	0.547			T	TCF3	ALL																																	uc002iug.1				Dom	yes		17	17q22	3131	T	hepatic leukemia factor			L	TCF3		ALL		0				large_intestine(1)|ovary(2)	3						c.(727-729)cGc>cAc		Homo sapiens hepatic leukemia factor (HLF), mRNA.							35.0	40.0	38.0					17																	53398080		2203	4299	6502	SO:0001583	missense	3131				multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:53398080G>A		CCDS11585.1	17q22	2011-05-19			ENSG00000108924	ENSG00000108924			4977	protein-coding gene	gene with protein product		142385				1386162	Standard	XM_005257269		Approved	MGC33822	uc002iug.1	Q16534		ENST00000226067.5:c.728G>A	17.37:g.53398080G>A	ENSP00000226067:p.Arg243His					HLF_uc010dce.1_Missense_Mutation_p.R158H|HLF_uc002iuh.2_Missense_Mutation_p.R158H|HLF_uc010wni.1_Missense_Mutation_p.R190H	p.R243H	NM_002126	NP_002117	Q16534	HLF_HUMAN			3	1253	+			243					A8K1X8|Q6FHS9	Missense_Mutation	SNP	ENST00000226067.5	37	c.728G>A	CCDS11585.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669231	0.88348	.	.	ENSG00000108924	ENST00000226067;ENST00000430986	T;T	0.72167	-0.63;-0.63	5.64	5.64	0.86602	Basic-leucine zipper (bZIP) transcription factor (2);Basic leucine zipper (1);	0.000000	0.85682	D	0.000000	D	0.90648	0.7067	H	0.97896	4.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93764	0.7069	10	0.87932	D	0	.	18.6863	0.91565	0.0:0.0:1.0:0.0	.	191;243	B4DIQ5;Q16534	.;HLF_HUMAN	H	243;158	ENSP00000226067:R243H;ENSP00000402496:R158H	ENSP00000226067:R243H	R	+	2	0	HLF	50753079	1.000000	0.71417	0.982000	0.44146	0.252000	0.25951	9.469000	0.97679	2.659000	0.90383	0.563000	0.77884	CGC		0.547	HLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439185.1	NM_002126	
TLK2	11011	broad.mit.edu	37	17	60679467	60679467	+	Silent	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr17:60679467G>A	ENST00000326270.9	+	20	2119	c.1851G>A	c.(1849-1851)tcG>tcA	p.S617S	TLK2_ENST00000343388.7_Silent_p.S563S|TLK2_ENST00000542523.1_Silent_p.S563S|TLK2_ENST00000582809.1_Silent_p.S446S|TLK2_ENST00000346027.5_Silent_p.S595S	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	617	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						TTGGTCTTTCGAAGATCATGG	0.383																																						uc010ddp.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						c.(1849-1851)tcG>tcA		Homo sapiens tousled-like kinase 2 (TLK2), transcript variant A, mRNA.							100.0	93.0	96.0					17																	60679467		2203	4300	6503	SO:0001819	synonymous_variant	11011				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:60679467G>A	AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.1851G>A	17.37:g.60679467G>A						TLK2_uc002izx.4_Silent_p.S443S|TLK2_uc002izz.4_Silent_p.S595S|TLK2_uc002jaa.4_Silent_p.S563S|TLK2_uc010wpd.2_Silent_p.S563S	p.S617S	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN			19	2119	+			617			Protein kinase.		D3DU07|Q9UKI7|Q9Y4F7	Silent	SNP	ENST00000326270.9	37	c.1851G>A																																																																																					0.383	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1	NM_006852	
ABCA10	10349	broad.mit.edu	37	17	67181653	67181653	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr17:67181653G>A	ENST00000269081.4	-	21	3371	c.2462C>T	c.(2461-2463)aCg>aTg	p.T821M	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	821					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GGTAAGAGGCGTCTTCGGGAT	0.363																																						uc010dfa.1																			0		p.K820N(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(2461-2463)aCg>aTg		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.							72.0	72.0	72.0					17																	67181653		2203	4300	6503	SO:0001583	missense	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67181653G>A	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.2462C>T	17.37:g.67181653G>A	ENSP00000269081:p.Thr821Met					ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_Missense_Mutation_p.T422M	p.T821M	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN			20	3341	-	Breast(10;6.95e-12)		821					C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	c.2462C>T	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	G	7.776	0.708510	0.15239	.	.	ENSG00000154263	ENST00000269081	D	0.87412	-2.25	2.92	-0.695	0.11291	.	1.266010	0.06270	U	0.695557	T	0.76807	0.4039	L	0.29908	0.895	0.09310	N	1	P;P	0.34629	0.46;0.46	B;B	0.32805	0.153;0.153	T	0.64394	-0.6418	10	0.48119	T	0.1	.	2.8343	0.05509	0.2334:0.0:0.3866:0.38	.	821;821	E5RFN6;Q8WWZ4	.;ABCAA_HUMAN	M	821	ENSP00000269081:T821M	ENSP00000269081:T821M	T	-	2	0	ABCA10	64693248	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.325000	0.02687	-0.222000	0.09958	-0.232000	0.12228	ACG		0.363	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282	
P4HB	5034	broad.mit.edu	37	17	79804920	79804920	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr17:79804920A>C	ENST00000331483.4	-	6	980	c.758T>G	c.(757-759)aTc>aGc	p.I253S	P4HB_ENST00000576390.1_Intron|P4HB_ENST00000439918.2_Missense_Mutation_p.I209S|P4HB_ENST00000472244.1_5'UTR	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	253					cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein folding (GO:0006457)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|procollagen-proline 4-dioxygenase complex (GO:0016222)	poly(A) RNA binding (GO:0044822)|procollagen-proline 4-dioxygenase activity (GO:0004656)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			GTGAGTCTTGATTTCACCTCC	0.468																																					Colon(49;444 983 1296 7887 42561)	uc002kbn.1																			0				NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22						c.(757-759)aTc>aGc		Homo sapiens prolyl 4-hydroxylase, beta polypeptide (P4HB), mRNA.							256.0	278.0	271.0					17																	79804920		2203	4298	6501	SO:0001583	missense	5034				cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr17:79804920A>C	J02783	CCDS11787.1	17q25	2011-10-19	2008-12-09		ENSG00000185624	ENSG00000185624	1.14.11.2, 5.3.4.1	"""Protein disulfide isomerases"""	8548	protein-coding gene	gene with protein product	"""protein disulfide isomerase-associated 1"", ""protein disulfide isomerase family A, member 1"", ""collagen prolyl 4-hydroxylase beta"""	176790	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase; thyroid hormone binding protein p55)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase-associated 1)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide"""	PO4DB, ERBA2L		8111381	Standard	NM_000918		Approved	PDIA1, PROHB, DSI, GIT, PDI, PO4HB, P4Hbeta	uc002kbn.1	P07237	OTTHUMG00000150269	ENST00000331483.4:c.758T>G	17.37:g.79804920A>C	ENSP00000327801:p.Ile253Ser					P4HB_uc002kbl.1_Intron|P4HB_uc002kbm.1_5'UTR	p.I253S	NM_000918	NP_000909	P07237	PDIA1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)		5	955	-	all_neural(118;0.0878)|Ovarian(332;0.12)		253					B2RDQ2|P30037|P32079|Q15205|Q6LDE5	Missense_Mutation	SNP	ENST00000331483.4	37	c.758T>G	CCDS11787.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	29.7|29.7	5.031804|5.031804	0.93575|0.93575	.|.	.|.	ENSG00000185624|ENSG00000185624	ENST00000331483;ENST00000537205;ENST00000436463|ENST00000439918	T|.	0.33438|.	1.41|.	5.47|5.47	5.47|5.47	0.80525|0.80525	Thioredoxin-like fold (1);|.	0.047694|.	0.85682|.	D|.	0.000000|.	D|D	0.86066|0.86066	0.5844|0.5844	M|M	0.93678|0.93678	3.445|3.445	0.80722|0.80722	D|D	1|1	D|.	0.65815|.	0.995|.	D|.	0.64506|.	0.926|.	D|D	0.89856|0.89856	0.4013|0.4013	10|5	0.87932|.	D|.	0|.	.|.	15.8807|15.8807	0.79201|0.79201	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	253|.	P07237|.	PDIA1_HUMAN|.	S|K	253;196;237|39	ENSP00000327801:I253S|.	ENSP00000327801:I253S|.	I|N	-|-	2|3	0|2	P4HB|P4HB	77398209|77398209	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.992000|0.992000	0.81027|0.81027	9.225000|9.225000	0.95219|0.95219	2.207000|2.207000	0.71202|0.71202	0.529000|0.529000	0.55759|0.55759	ATC|AAT		0.468	P4HB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317250.3	NM_000918	
LAMA3	3909	broad.mit.edu	37	18	21492813	21492813	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr18:21492813A>G	ENST00000313654.9	+	56	7538	c.7297A>G	c.(7297-7299)Aat>Gat	p.N2433D	LAMA3_ENST00000269217.6_Missense_Mutation_p.N824D|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.N768D|LAMA3_ENST00000399516.3_Missense_Mutation_p.N2377D	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2433	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GGGTACTGAGAATATGTTTGT	0.398																																						uc002kuq.3																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(7297-7299)Aat>Gat		Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						127.0	119.0	122.0					18																	21492813		2203	4300	6503	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21492813A>G	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.7297A>G	18.37:g.21492813A>G	ENSP00000324532:p.Asn2433Asp					LAMA3_uc002kur.3_Missense_Mutation_p.N2377D|LAMA3_uc002kus.4_Missense_Mutation_p.N824D|LAMA3_uc002kut.4_Missense_Mutation_p.N768D	p.N2433D	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			55	7383	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		2433			Laminin G-like 1.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.7297A>G	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	A	1.384	-0.582652	0.03827	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.18174	2.25;2.23;3.79	5.64	1.75	0.24633	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.05823	0.0152	N	0.02830	-0.485	0.29804	N	0.83218	B;B;B;B	0.10296	0.001;0.003;0.003;0.003	B;B;B;B	0.15870	0.007;0.009;0.014;0.01	T	0.39375	-0.9617	9	0.02654	T	1	.	9.7145	0.40265	0.4662:0.0:0.5338:0.0	.	768;824;2377;2433	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	D	2433;2377;824	ENSP00000324532:N2433D;ENSP00000382432:N2377D;ENSP00000269217:N824D	ENSP00000269217:N824D	N	+	1	0	LAMA3	19746811	0.578000	0.26717	0.904000	0.35570	0.857000	0.48899	0.570000	0.23653	0.462000	0.27095	-0.256000	0.11100	AAT		0.398	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129	
CATSPERD	257062	broad.mit.edu	37	19	5748191	5748191	+	Missense_Mutation	SNP	C	C	T	rs367967767		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr19:5748191C>T	ENST00000381624.3	+	10	890	c.829C>T	c.(829-831)Cgg>Tgg	p.R277W	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	277					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											CGACACCGTCCGGGTGAAAAA	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		16167	0.001		0.0	False		,,,				2504	0.0					uc002mda.3																			0											c.(829-831)Cgg>Tgg		Homo sapiens transmembrane protein 146 (TMEM146), mRNA.		C	TRP/ARG	0,3962		0,0,1981	94.0	101.0	99.0		829	-4.4	0.0	19		99	1,8289		0,1,4144	no	missense	TMEM146	NM_152784.3	101	0,1,6125	TT,TC,CC		0.0121,0.0,0.0082	probably-damaging	277/799	5748191	1,12251	1981	4145	6126	SO:0001583	missense	257062					integral to membrane		g.chr19:5748191C>T	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.829C>T	19.37:g.5748191C>T	ENSP00000371037:p.Arg277Trp					CATSPERD_uc010duj.1_5'UTR	p.R277W	NM_152784	NP_689997	Q86XM0	TM146_HUMAN			9	890	+			277					Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	37	c.829C>T	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	C	14.59	2.581963	0.46006	0.0	1.21E-4	ENSG00000174898	ENST00000394548;ENST00000381624	T	0.25579	1.79	3.0	-4.44	0.03557	.	3.053280	0.01531	U	0.018798	T	0.32823	0.0842	L	0.43152	1.355	0.09310	N	0.999999	D	0.76494	0.999	P	0.59948	0.866	T	0.42832	-0.9428	10	0.87932	D	0	0.8992	1.97	0.03404	0.2991:0.2312:0.3599:0.1099	.	277	Q86XM0	TM146_HUMAN	W	203;277	ENSP00000371037:R277W	ENSP00000371037:R277W	R	+	1	2	TMEM146	5699191	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.347000	0.02632	-0.732000	0.04856	-0.145000	0.13849	CGG		0.542	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784	
CATSPERG	57828	broad.mit.edu	37	19	38851477	38851477	+	Missense_Mutation	SNP	G	G	A	rs535055326		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr19:38851477G>A	ENST00000409235.3	+	16	1989	c.1874G>A	c.(1873-1875)cGg>cAg	p.R625Q	AC005625.1_ENST00000590304.1_RNA|CATSPERG_ENST00000410018.1_Missense_Mutation_p.R585Q|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	625					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						GACTTGGAGCGGAAAGGGTGA	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		18864	0.001		0.0	False		,,,				2504	0.0					uc002oih.4																			0		p.T625T(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						c.(1873-1875)cGg>cAg		Homo sapiens cation channel, sperm-associated, gamma (CATSPERG), mRNA.							38.0	32.0	34.0					19																	38851477		2203	4300	6503	SO:0001583	missense	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38851477G>A	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.1874G>A	19.37:g.38851477G>A	ENSP00000386962:p.Arg625Gln					CATSPERG_uc002oig.4_Missense_Mutation_p.R585Q|CATSPERG_uc002oif.4_Missense_Mutation_p.R265Q|CATSPERG_uc010efw.3_Non-coding_Transcript	p.R625Q	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN			15	1961	+			625					A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	37	c.1874G>A	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016353	0.35606	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T;T	0.31769	1.48;1.48;1.48	4.8	-8.7	0.00851	.	2.373100	0.01505	N	0.017655	T	0.17195	0.0413	N	0.17674	0.51	0.09310	N	1	B;B	0.20261	0.017;0.043	B;B	0.14578	0.005;0.011	T	0.09684	-1.0663	10	0.28530	T	0.3	-7.6665	8.9729	0.35917	0.6595:0.0:0.2261:0.1144	.	625;585	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	Q	585;625;625	ENSP00000387057:R585Q;ENSP00000386962:R625Q;ENSP00000386950:R625Q	ENSP00000386962:R625Q	R	+	2	0	CATSPERG	43543317	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.314000	0.00516	-1.489000	0.01844	-0.518000	0.04402	CGG		0.572	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185	
ZNF780A	284323	broad.mit.edu	37	19	40580618	40580618	+	Silent	SNP	T	T	C			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr19:40580618T>C	ENST00000595687.2	-	6	1940	c.1731A>G	c.(1729-1731)aaA>aaG	p.K577K	ZNF780A_ENST00000594395.1_Silent_p.K578K|ZNF780A_ENST00000455521.1_Silent_p.K578K|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Silent_p.K577K|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000450241.2_Silent_p.K543K	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	577					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CAGTATGCAATTTCTGATGTC	0.388																																						uc010xvh.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(1732-1734)aaA>aaG		Homo sapiens zinc finger protein 780A (ZNF780A), transcript variant 1, mRNA.							140.0	140.0	140.0					19																	40580618		2203	4300	6503	SO:0001819	synonymous_variant	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40580618T>C	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1731A>G	19.37:g.40580618T>C						ZNF780A_uc002omw.4_Intron|ZNF780A_uc002omy.3_Silent_p.K577K|ZNF780A_uc002omz.3_Silent_p.K577K	p.K578K	NM_001142577	NP_001136049	O75290	Z780A_HUMAN			5	1882	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		577					E9PB48|Q6ZN87	Silent	SNP	ENST00000595687.2	37	c.1734A>G	CCDS33026.2																																																																																				0.388	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880	
PPFIA3	8541	broad.mit.edu	37	19	49633717	49633717	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr19:49633717C>G	ENST00000334186.4	+	7	1089	c.740C>G	c.(739-741)gCc>gGc	p.A247G	PPFIA3_ENST00000602351.1_Missense_Mutation_p.A247G	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	247					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CGGCAGCGCGCCGAGGTGTGC	0.692																																						uc002pmr.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35						c.(739-741)gCc>gGc		Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 (PPFIA3), mRNA.							11.0	13.0	12.0					19																	49633717		2163	4248	6411	SO:0001583	missense	8541					cell surface|cytoplasm	protein binding	g.chr19:49633717C>G	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.740C>G	19.37:g.49633717C>G	ENSP00000335614:p.Ala247Gly					PPFIA3_uc010yai.2_Non-coding_Transcript|PPFIA3_uc010emt.3_Missense_Mutation_p.A171G|PPFIA3_uc010yaj.1_Non-coding_Transcript|PPFIA3_uc002pms.3_Missense_Mutation_p.A115G	p.A247G	NM_003660	NP_003651	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	6	1072	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	247					A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	ENST00000334186.4	37	c.740C>G	CCDS12758.1	.	.	.	.	.	.	.	.	.	.	C	7.792	0.711703	0.15306	.	.	ENSG00000177380	ENST00000334186;ENST00000421230	T	0.42513	0.97	4.15	3.09	0.35607	.	0.309004	0.22910	N	0.054159	T	0.31734	0.0806	L	0.51422	1.61	0.09310	N	1	B;B;B	0.21452	0.056;0.007;0.001	B;B;B	0.19946	0.027;0.008;0.003	T	0.14811	-1.0459	10	0.22109	T	0.4	-13.1917	6.4627	0.21966	0.0:0.5398:0.3616:0.0986	.	171;247;247	B4DEU8;O75145-2;O75145	.;.;LIPA3_HUMAN	G	247;171	ENSP00000335614:A247G	ENSP00000335614:A247G	A	+	2	0	PPFIA3	54325529	0.000000	0.05858	0.044000	0.18714	0.796000	0.44982	0.230000	0.17852	1.091000	0.41335	0.305000	0.20034	GCC		0.692	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660	
ZNF544	27300	broad.mit.edu	37	19	58772416	58772416	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr19:58772416G>C	ENST00000596652.1	+	6	678	c.444G>C	c.(442-444)gaG>gaC	p.E148D	ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000600044.1_Missense_Mutation_p.E120D|ZNF544_ENST00000599953.1_Missense_Mutation_p.E6D|ZNF544_ENST00000415203.2_Missense_Mutation_p.E120D|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000595981.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000600220.1_Missense_Mutation_p.E120D|ZNF544_ENST00000269829.4_Missense_Mutation_p.E148D|ZNF544_ENST00000596825.1_3'UTR			Q6NX49	ZN544_HUMAN	zinc finger protein 544	148					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)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		TCACCTCAGAGAGACTGTTTG	0.448																																						uc010euo.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18						c.(442-444)gaG>gaC		Homo sapiens zinc finger protein 544 (ZNF544), mRNA.							100.0	89.0	93.0					19																	58772416		2203	4300	6503	SO:0001583	missense	27300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58772416G>C	AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"""Zinc fingers, C2H2-type"", ""-"""	16759	protein-coding gene	gene with protein product	"""zinc finger protein AF020591"""						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.444G>C	19.37:g.58772416G>C	ENSP00000469635:p.Glu148Asp					ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.2_Missense_Mutation_p.E120D|ZNF544_uc010yhy.2_Missense_Mutation_p.E120D|ZNF544_uc002qrt.4_Missense_Mutation_p.E6D|ZNF544_uc002qru.4_Missense_Mutation_p.E6D|BC063675_uc002qrx.1_Intron	p.E148D	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)	6	918	+		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	148					A8K6J1|Q9UEX4	Missense_Mutation	SNP	ENST00000596652.1	37	c.444G>C	CCDS12973.1	.	.	.	.	.	.	.	.	.	.	G	9.437	1.087036	0.20390	.	.	ENSG00000198131	ENST00000269829;ENST00000415203	T;T	0.08634	3.13;3.07	3.12	-0.442	0.12253	.	.	.	.	.	T	0.04724	0.0128	N	0.20986	0.625	0.20489	N	0.999897	B;B;B	0.33857	0.024;0.016;0.429	B;B;B	0.33799	0.008;0.003;0.17	T	0.40701	-0.9549	9	0.30078	T	0.28	.	2.8128	0.05446	0.2573:0.0:0.5232:0.2195	.	120;120;148	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	D	148;120	ENSP00000269829:E148D;ENSP00000394341:E120D	ENSP00000269829:E148D	E	+	3	2	ZNF544	63464228	0.000000	0.05858	0.002000	0.10522	0.019000	0.09904	0.029000	0.13666	-0.096000	0.12329	0.655000	0.94253	GAG		0.448	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	NM_014480	
PSD4	23550	broad.mit.edu	37	2	113940279	113940279	+	Silent	SNP	C	C	T	rs147089589		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr2:113940279C>T	ENST00000245796.6	+	2	441	c.246C>T	c.(244-246)gaC>gaT	p.D82D	PSD4_ENST00000465917.1_3'UTR|PSD4_ENST00000441564.3_Silent_p.D82D	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	82					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCATCAGGACGGGCTGGAGC	0.622																																						uc002tjc.3																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(244-246)gaC>gaT		Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.		T		1,4405	2.1+/-5.4	0,1,2202	51.0	52.0	52.0		246	-1.1	0.0	2	dbSNP_134	52	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PSD4	NM_012455.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		82/1057	113940279	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113940279C>T	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.246C>T	2.37:g.113940279C>T						PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Silent_p.D81D|PSD4_uc002tjf.3_5'Flank	p.D82D	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN			1	429	+			82					A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Silent	SNP	ENST00000245796.6	37	c.246C>T	CCDS33276.1																																																																																				0.622	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455	
MGAT5	4249	broad.mit.edu	37	2	135107438	135107438	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr2:135107438C>T	ENST00000409645.1	+	10	1427	c.1175C>T	c.(1174-1176)gCc>gTc	p.A392V	MGAT5_ENST00000281923.2_Missense_Mutation_p.A392V			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	392					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		GCAAATTATGCCCAATCGAAA	0.413																																						uc002ttw.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36						c.(1174-1176)gCc>gTc		Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase (MGAT5), mRNA.							145.0	139.0	141.0					2																	135107438		2203	4300	6503	SO:0001583	missense	4249				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity	g.chr2:135107438C>T	D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.1175C>T	2.37:g.135107438C>T	ENSP00000386377:p.Ala392Val						p.A392V	NM_002410	NP_002401	Q09328	MGT5A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0964)	8	1320	+			392					D3DP70	Missense_Mutation	SNP	ENST00000409645.1	37	c.1175C>T	CCDS2171.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354094	0.61293	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	5.12	4.23	0.50019	.	0.049024	0.85682	D	0.000000	T	0.64416	0.2596	M	0.62266	1.93	0.80722	D	1	P	0.44627	0.839	P	0.48704	0.587	T	0.69367	-0.5164	9	0.72032	D	0.01	-14.4403	15.2536	0.73568	0.1416:0.8584:0.0:0.0	.	392	Q09328	MGT5A_HUMAN	V	392	.	ENSP00000281923:A392V	A	+	2	0	MGAT5	134823908	1.000000	0.71417	1.000000	0.80357	0.182000	0.23217	7.772000	0.85439	1.238000	0.43771	-0.182000	0.12963	GCC		0.413	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	NM_002410	
XIRP2	129446	broad.mit.edu	37	2	168107813	168107813	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr2:168107813G>A	ENST00000409195.1	+	9	10000	c.9911G>A	c.(9910-9912)cGc>cAc	p.R3304H	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R3304H|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R3082H	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3129					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTGCCTCCTCGCCTGTCAGAG	0.438																																						uc002udx.3																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(9910-9912)cGc>cAc		Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.							106.0	107.0	107.0					2																	168107813		2025	4191	6216	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168107813G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.9911G>A	2.37:g.168107813G>A	ENSP00000386840:p.Arg3304His					XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.R3129H|XIRP2_uc010fpq.3_Missense_Mutation_p.R3082H|XIRP2_uc010fpr.3_Intron	p.R3304H	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	10000	+			3129					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.9911G>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	1.494	-0.553755	0.03996	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02579	4.24;4.24;4.24	5.67	-3.91	0.04168	.	0.818994	0.11350	N	0.573066	T	0.01156	0.0038	N	0.04880	-0.145	0.09310	N	1	P;B;B	0.35050	0.482;0.003;0.001	B;B;B	0.25759	0.063;0.002;0.002	T	0.50320	-0.8842	10	0.13470	T	0.59	11.3009	9.3978	0.38412	0.6913:0.0:0.1912:0.1175	.	3129;3129;3082	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	H	3304;3304;3082;718	ENSP00000386840:R3304H;ENSP00000295237:R3304H;ENSP00000387255:R3082H	ENSP00000295237:R3304H	R	+	2	0	XIRP2	167816059	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.188000	0.17018	-0.793000	0.04475	-0.237000	0.12165	CGC		0.438	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
LRP2	4036	broad.mit.edu	37	2	170134318	170134318	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr2:170134318C>T	ENST00000263816.3	-	13	1994	c.1709G>A	c.(1708-1710)cGt>cAt	p.R570H	LRP2_ENST00000443831.1_Intron	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	570					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.R570H(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CCAGTAAACACGCTTCGATAT	0.408																																						uc002ues.3																			1	Substitution - Missense(1)	p.R570H(2)	ovary(1)	biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(1708-1710)cGt>cAt		Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						143.0	139.0	140.0					2																	170134318		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170134318C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.1709G>A	2.37:g.170134318C>T	ENSP00000263816:p.Arg570His					LRP2_uc010zdf.1_Intron	p.R570H	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	12	1922	-			570					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.1709G>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.856724	0.71834	.	.	ENSG00000081479	ENST00000263816	D	0.91945	-2.94	5.7	5.7	0.88788	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.96278	0.8786	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95349	0.8445	10	0.42905	T	0.14	.	19.8176	0.96576	0.0:1.0:0.0:0.0	.	570	P98164	LRP2_HUMAN	H	570	ENSP00000263816:R570H	ENSP00000263816:R570H	R	-	2	0	LRP2	169842564	1.000000	0.71417	0.997000	0.53966	0.015000	0.08874	7.723000	0.84788	2.680000	0.91292	0.555000	0.69702	CGT		0.408	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
TTN	7273	broad.mit.edu	37	2	179399105	179399108	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr2:179399105_179399108delTCTT	ENST00000591111.1	-	308	97535_97538	c.97311_97314delAAGA	c.(97309-97314)gaaagafs	p.ER32437fs	TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.ER25138fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.ER25013fs|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.ER25205fs|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.ER34078fs|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.ER31510fs|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000587944.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32437					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGTACTGACTCTTTCTATCTTCT	0.461																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(94528-94533)gaaagafs		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.																																				SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179399105_179399108delTCTT	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.97311_97314delAAGA	2.37:g.179399105_179399108delTCTT	ENSP00000465570:p.Glu32437fs					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Frame_Shift_Del_p.E25205fs|TTN_uc021vta.1_Frame_Shift_Del_p.E25138fs|TTN_uc021vtb.1_Frame_Shift_Del_p.E25013fs	p.E31510fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		306	94755_94758	-			32437			Ig-like 140.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Del	DEL	ENST00000591111.1	37	c.94530_94533delAAGA																																																																																					0.461	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179544077	179544077	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr2:179544077G>A	ENST00000591111.1	-	140	33004	c.32780C>T	c.(32779-32781)cCg>cTg	p.P10927L	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.P11244L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P10000L|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11698	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTGCTGGCGGAGGCTTCTC	0.413																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(29998-30000)cCg>cTg		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							107.0	102.0	104.0					2																	179544077		1858	4101	5959	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179544077G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.32780C>T	2.37:g.179544077G>A	ENSP00000465570:p.Pro10927Leu					TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6661L|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	p.P10000L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		138	30224	-			10927			Glu-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.29999C>T		.	.	.	.	.	.	.	.	.	.	G	8.032	0.761929	0.15914	.	.	ENSG00000155657	ENST00000342992	T	0.69040	-0.37	5.93	5.05	0.67936	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.69726	0.3143	M	0.88775	2.98	0.80722	D	1	B	0.26195	0.144	B	0.16722	0.016	T	0.71639	-0.4532	9	0.87932	D	0	.	10.5228	0.44929	0.0697:0.0:0.7972:0.1331	.	10927	Q8WZ42	TITIN_HUMAN	L	10000	ENSP00000343764:P10000L	ENSP00000343764:P10000L	P	-	2	0	TTN	179252322	0.998000	0.40836	0.996000	0.52242	0.114000	0.19823	3.721000	0.54941	1.513000	0.48852	0.655000	0.94253	CCG		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
SDPR	8436	broad.mit.edu	37	2	192711596	192711596	+	Missense_Mutation	SNP	C	C	T	rs371428159		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr2:192711596C>T	ENST00000304141.4	-	1	385	c.56G>A	c.(55-57)cGg>cAg	p.R19Q	AC098617.1_ENST00000424116.2_RNA	NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			CTTTTCCTGCCGCATGTCAGA	0.607																																						uc002utb.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23						c.(55-57)cGg>cAg		Homo sapiens serum deprivation response (SDPR), mRNA.	Phosphatidylserine(DB00144)	C	GLN/ARG	0,4406		0,0,2203	65.0	64.0	64.0		56	-2.2	0.1	2		64	1,8599	1.2+/-3.3	0,1,4299	no	missense	SDPR	NM_004657.5	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	19/426	192711596	1,13005	2203	4300	6503	SO:0001583	missense	8436					caveola|cytosol	phosphatidylserine binding|protein binding	g.chr2:192711596C>T	AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"""phosphatidylserine binding protein"""	606728	"""serum deprivation response (phosphatidylserine-binding protein)"", ""serum deprivation response (phosphatidylserine binding protein)"""			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.56G>A	2.37:g.192711596C>T	ENSP00000305675:p.Arg19Gln						p.R19Q	NM_004657	NP_004648	O95810	SDPR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0647)		0	411	-			19						Missense_Mutation	SNP	ENST00000304141.4	37	c.56G>A	CCDS2313.1	.	.	.	.	.	.	.	.	.	.	C	2.163	-0.391751	0.04932	0.0	1.16E-4	ENSG00000168497	ENST00000304141	T	0.63096	-0.02	4.84	-2.25	0.06888	.	1.325690	0.04910	N	0.453002	T	0.33702	0.0872	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.08046	-1.0741	10	0.19147	T	0.46	-0.3117	1.0706	0.01620	0.1489:0.3431:0.209:0.299	.	19	O95810	SDPR_HUMAN	Q	19	ENSP00000305675:R19Q	ENSP00000305675:R19Q	R	-	2	0	SDPR	192419841	0.000000	0.05858	0.121000	0.21740	0.210000	0.24377	-0.086000	0.11233	-0.300000	0.08895	-1.090000	0.02178	CGG		0.607	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2	NM_004657	
NGEF	25791	broad.mit.edu	37	2	233744299	233744299	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr2:233744299G>T	ENST00000264051.3	-	15	2311	c.2033C>A	c.(2032-2034)tCc>tAc	p.S678Y	NGEF_ENST00000373552.4_Missense_Mutation_p.S586Y|NGEF_ENST00000539537.1_Missense_Mutation_p.S401Y	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	678					apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GAGGTTCTGGGACCGGATCTT	0.582																																						uc002vts.2																			0		p.R677Q(1)		central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35						c.(2032-2034)tCc>tAc		Homo sapiens neuronal guanine nucleotide exchange factor (NGEF), transcript variant 1, mRNA.							93.0	93.0	93.0					2																	233744299		2203	4300	6503	SO:0001583	missense	25791				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr2:233744299G>T	AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"""Rho guanine nucleotide exchange factors"""	7807	protein-coding gene	gene with protein product	"""ephexin"""	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.2033C>A	2.37:g.233744299G>T	ENSP00000264051:p.Ser678Tyr					NGEF_uc010zmm.1_Missense_Mutation_p.S401Y|NGEF_uc010fyg.1_Missense_Mutation_p.S586Y	p.S678Y	NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)	14	2281	-		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	678					B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Missense_Mutation	SNP	ENST00000264051.3	37	c.2033C>A	CCDS2500.1	.	.	.	.	.	.	.	.	.	.	g	16.56	3.157428	0.57259	.	.	ENSG00000066248	ENST00000264051;ENST00000373552;ENST00000541023;ENST00000539537	T;T;T	0.72282	-0.43;-0.64;-0.59	4.19	4.19	0.49359	.	0.143980	0.47455	D	0.000240	T	0.61874	0.2382	N	0.08118	0	0.35136	D	0.76844	P;D	0.56521	0.828;0.976	B;P	0.51016	0.37;0.656	T	0.76239	-0.3032	10	0.62326	D	0.03	-25.0391	16.5379	0.84377	0.0:0.0:1.0:0.0	.	586;678	E9PC42;Q8N5V2	.;NGEF_HUMAN	Y	678;586;568;401	ENSP00000264051:S678Y;ENSP00000362653:S586Y;ENSP00000439035:S401Y	ENSP00000264051:S678Y	S	-	2	0	NGEF	233452543	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.139000	0.64801	1.868000	0.54150	0.558000	0.71614	TCC		0.582	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799	
MYH7B	57644	broad.mit.edu	37	20	33586908	33586908	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr20:33586908G>A	ENST00000262873.7	+	34	4458	c.4366G>A	c.(4366-4368)Gcc>Acc	p.A1456T		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1414						membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CGTGGAGGCTGCCAACGCCAA	0.607																																						uc002xbi.2																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(4366-4368)Gcc>Acc		Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.							24.0	33.0	30.0					20																	33586908		2194	4297	6491	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33586908G>A	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.4366G>A	20.37:g.33586908G>A	ENSP00000262873:p.Ala1456Thr						p.A1456T	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		35	4683	+			1414					Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.4366G>A	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893412	0.72524	.	.	ENSG00000078814	ENST00000262873	T	0.79033	-1.23	4.54	4.54	0.55810	Myosin tail (1);	0.000000	0.34386	N	0.004002	T	0.78317	0.4264	L	0.60957	1.885	0.35848	D	0.826578	P	0.43578	0.811	B	0.43838	0.433	D	0.85457	0.1164	10	0.59425	D	0.04	.	17.504	0.87739	0.0:0.0:1.0:0.0	.	1414	A7E2Y1	MYH7B_HUMAN	T	1456	ENSP00000262873:A1456T	ENSP00000262873:A1456T	A	+	1	0	MYH7B	33050569	0.999000	0.42202	0.552000	0.28243	0.906000	0.53458	4.558000	0.60789	2.352000	0.79861	0.561000	0.74099	GCC		0.607	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884	
SALL4	57167	broad.mit.edu	37	20	50407987	50407987	+	Silent	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr20:50407987C>T	ENST00000217086.4	-	2	1146	c.1035G>A	c.(1033-1035)caG>caA	p.Q345Q	SALL4_ENST00000395997.3_Silent_p.Q345Q|SALL4_ENST00000371539.3_Intron|SALL4_ENST00000483130.1_5'Flank	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	345					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGAAAGGGCTCTGGAAGAGCA	0.632																																						uc002xwh.4																			0				endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1033-1035)caG>caA		Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.							35.0	38.0	37.0					20																	50407987		2202	4299	6501	SO:0001819	synonymous_variant	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50407987C>T	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.1035G>A	20.37:g.50407987C>T						SALL4_uc010gii.3_Silent_p.Q345Q|SALL4_uc002xwi.4_Intron	p.Q345Q	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN			1	1136	-			345					A2A2D8|Q540H3|Q6Y8G6	Silent	SNP	ENST00000217086.4	37	c.1035G>A	CCDS13438.1																																																																																				0.632	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3		
COL20A1	57642	broad.mit.edu	37	20	61942767	61942767	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr20:61942767C>T	ENST00000358894.6	+	12	1515	c.1415C>T	c.(1414-1416)gCg>gTg	p.A472V	COL20A1_ENST00000422202.1_Missense_Mutation_p.A479V|COL20A1_ENST00000326996.6_Missense_Mutation_p.A472V|COL20A1_ENST00000435874.1_Missense_Mutation_p.A479V	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	472	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCGCCCCGGGCGCTGACCCTG	0.687																																						uc011aau.2																			0		p.R471L(1)		NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36						c.(1414-1416)gCg>gTg		Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.							10.0	13.0	12.0					20																	61942767		2025	4159	6184	SO:0001583	missense	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61942767C>T	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.1415C>T	20.37:g.61942767C>T	ENSP00000351767:p.Ala472Val					COL20A1_uc011aav.2_Missense_Mutation_p.A293V	p.A472V	NM_020882	NP_065933	Q9P218	COKA1_HUMAN			11	1515	+	all_cancers(38;1.39e-10)		472			Fibronectin type-III 3.		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	ENST00000358894.6	37	c.1415C>T	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.524396	0.27299	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	4.3	3.34	0.38264	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.425918	0.22979	N	0.053338	T	0.46927	0.1418	L	0.54323	1.7	0.09310	N	1	P;P	0.50443	0.92;0.935	B;B	0.41135	0.236;0.348	T	0.40059	-0.9583	10	0.49607	T	0.09	.	11.8786	0.52562	0.0:0.822:0.178:0.0	.	479;472	Q9P218-2;Q9P218	.;COKA1_HUMAN	V	472;472;479;479	ENSP00000351767:A472V;ENSP00000323077:A472V;ENSP00000408690:A479V;ENSP00000414753:A479V	ENSP00000323077:A472V	A	+	2	0	COL20A1	61413212	0.000000	0.05858	0.023000	0.16930	0.098000	0.18820	-0.092000	0.11129	0.779000	0.33543	0.467000	0.42956	GCG		0.687	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882	
CCT8L2	150160	broad.mit.edu	37	22	17072541	17072541	+	Silent	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr22:17072541G>A	ENST00000359963.3	-	1	1159	c.900C>T	c.(898-900)gaC>gaT	p.D300D		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	300					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GGGTCTCCTCGTCGACCTCCC	0.493																																						uc002zlp.1																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67						c.(898-900)gaC>gaT		Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.							194.0	173.0	180.0					22																	17072541		2203	4300	6503	SO:0001819	synonymous_variant	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17072541G>A	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.900C>T	22.37:g.17072541G>A							p.D300D	NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN			0	1160	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	300					A4QPH3|Q9UJS3	Silent	SNP	ENST00000359963.3	37	c.900C>T	CCDS13738.1																																																																																				0.493	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1		
PARVG	64098	broad.mit.edu	37	22	44586519	44586519	+	Silent	SNP	C	C	T	rs3842780	byFrequency	TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr22:44586519C>T	ENST00000444313.3	+	7	961	c.477C>T	c.(475-477)aaC>aaT	p.N159N	PARVG_ENST00000415224.1_Silent_p.N159N|PARVG_ENST00000422871.1_Silent_p.N159N	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	159					actin cytoskeleton reorganization (GO:0031532)|cell-matrix adhesion (GO:0007160)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				TCCCAACCAACGTCCAGGTGG	0.602																																						uc011aqe.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17						c.(475-477)aaC>aaT		Homo sapiens parvin, gamma (PARVG), transcript variant 2, mRNA.							89.0	71.0	77.0					22																	44586519		2203	4300	6503	SO:0001819	synonymous_variant	64098				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr22:44586519C>T	AF237772	CCDS14057.1	22q13.31	2013-01-24			ENSG00000138964	ENSG00000138964		"""Parvins"""	14654	protein-coding gene	gene with protein product		608122				11171322	Standard	NM_022141		Approved		uc003bep.4	Q9HBI0	OTTHUMG00000150473	ENST00000444313.3:c.477C>T	22.37:g.44586519C>T						PARVG_uc003bep.3_Silent_p.N159N|PARVG_uc011aqf.2_Silent_p.N159N|PARVG_uc021wrc.1_Non-coding_Transcript	p.N159N	NM_001137605	NP_071424	Q9HBI0	PARVG_HUMAN			6	901	+		Ovarian(80;0.024)|all_neural(38;0.0299)	159					B4DDW5|E7EVM6|Q9BQX5|Q9NSG1	Silent	SNP	ENST00000444313.3	37	c.477C>T	CCDS14057.1																																																																																				0.602	PARVG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318238.4	NM_022141	
PPARG	5468	broad.mit.edu	37	3	12447429	12447429	+	Missense_Mutation	SNP	C	C	T	rs573789959		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr3:12447429C>T	ENST00000287820.6	+	5	789	c.668C>T	c.(667-669)gCg>gTg	p.A223V	PPARG_ENST00000397015.2_Missense_Mutation_p.A195V|PPARG_ENST00000539812.1_Missense_Mutation_p.A193V|PPARG_ENST00000397026.2_Missense_Mutation_p.A201V|PPARG_ENST00000397012.2_Missense_Mutation_p.A195V|PPARG_ENST00000397000.1_Missense_Mutation_p.A195V|PPARG_ENST00000397010.2_Missense_Mutation_p.A195V|PPARG_ENST00000309576.6_Missense_Mutation_p.A195V	NM_015869.4	NP_056953.2	P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	223	Interaction with FAM120B. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|brown fat cell differentiation (GO:0050873)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|cellular response to lithium ion (GO:0071285)|epithelial cell differentiation (GO:0030855)|fatty acid oxidation (GO:0019395)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|innate immune response (GO:0045087)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|lipoprotein transport (GO:0042953)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle receptor biosynthetic process (GO:0045713)|monocyte differentiation (GO:0030224)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of cell growth (GO:0030308)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ regeneration (GO:0031100)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|placenta development (GO:0001890)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood pressure (GO:0008217)|regulation of cholesterol transporter activity (GO:0060694)|regulation of transcription involved in cell fate commitment (GO:0060850)|response to caffeine (GO:0031000)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to lipid (GO:0033993)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|arachidonic acid binding (GO:0050544)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|prostaglandin receptor activity (GO:0004955)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Balsalazide(DB01014)|Bezafibrate(DB01393)|Glipizide(DB01067)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Mesalazine(DB00244)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rosiglitazone(DB00412)|Sulfasalazine(DB00795)|Telmisartan(DB00966)	AAGCTGTTGGCGGAGATCTCC	0.512			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						C|||	1	0.000199681	0.0	0.0	5008	,	,		18697	0.001		0.0	False		,,,				2504	0.0					uc003bwx.3				Dom	yes		3	3p25	5468	T	"""peroxisome proliferative activated receptor, gamma"""	yes	"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""	E	PAX8		follicular thyroid	PAX8/PPARG(117)	0		p.A223A(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20						c.(667-669)gCg>gTg		Homo sapiens peroxisome proliferator-activated receptor gamma (PPARG), transcript variant 2, mRNA.	Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)						77.0	76.0	76.0					3																	12447429		2203	4300	6503	SO:0001583	missense	5468				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr3:12447429C>T	X90563	CCDS2609.1, CCDS2610.2	3p25	2013-01-16	2006-10-17		ENSG00000132170	ENSG00000132170		"""Nuclear hormone receptors"""	9236	protein-coding gene	gene with protein product		601487	"""peroxisome proliferative activated receptor, gamma"""			7862171, 9750197	Standard	NM_005037		Approved	PPARG1, PPARG2, NR1C3, PPARgamma	uc003bwx.3	P37231	OTTHUMG00000129764	ENST00000287820.6:c.668C>T	3.37:g.12447429C>T	ENSP00000287820:p.Ala223Val					PPARG_uc003bwr.3_Missense_Mutation_p.A195V|PPARG_uc003bws.3_Missense_Mutation_p.A195V|PPARG_uc003bwu.3_Missense_Mutation_p.A195V|PPARG_uc003bwv.3_Missense_Mutation_p.A195V|PPARG_uc010hea.1_Non-coding_Transcript|PPARG_uc003bwt.1_Missense_Mutation_p.A195V|PPARG_uc003bww.1_Missense_Mutation_p.A223V	p.A223V	NM_015869	NP_619726	P37231	PPARG_HUMAN			4	759	+			223			Interaction with FAM120B (By similarity).		A8K3G6|B5BUA1|O00684|O00710|O14515|Q0QJH8|Q15178|Q15179|Q15180|Q15832|Q86U60|Q96J12	Missense_Mutation	SNP	ENST00000287820.6	37	c.668C>T	CCDS2609.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.009273	0.93346	.	.	ENSG00000132170	ENST00000397010;ENST00000309576;ENST00000397015;ENST00000397012;ENST00000397026;ENST00000397000;ENST00000539812;ENST00000287820	D;D;D;D;D;D;D;D	0.93906	-3.3;-3.3;-3.3;-3.3;-3.31;-2.81;-2.81;-3.26	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.95645	0.8584	M	0.87547	2.89	0.80722	D	1	D;D;D	0.76494	0.999;0.992;0.995	P;B;B	0.48704	0.587;0.437;0.251	D	0.95636	0.8694	10	0.56958	D	0.05	.	20.0896	0.97814	0.0:1.0:0.0:0.0	.	223;209;195	P37231;Q4W4C7;E9PFX5	PPARG_HUMAN;.;.	V	195;195;195;195;201;195;193;223	ENSP00000380205:A195V;ENSP00000312472:A195V;ENSP00000380210:A195V;ENSP00000380207:A195V;ENSP00000380221:A201V;ENSP00000380196:A195V;ENSP00000438940:A193V;ENSP00000287820:A223V	ENSP00000287820:A223V	A	+	2	0	PPARG	12422429	1.000000	0.71417	0.980000	0.43619	0.996000	0.88848	7.263000	0.78421	2.741000	0.93983	0.650000	0.86243	GCG		0.512	PPARG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251979.2	NM_005037	
FOXL2NB	401089	broad.mit.edu	37	3	138669148	138669148	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr3:138669148C>T	ENST00000383165.3	+	3	393	c.262C>T	c.(262-264)Cgg>Tgg	p.R88W		NM_001040061.2	NP_001035150.1	Q6ZUU3	FOXNB_HUMAN		88										large_intestine(1)|lung(3)	4						GCCCGCGCCTCGGGCTTCCGG	0.692																																						uc003esx.1																			0				large_intestine(1)|lung(3)	4						c.(262-264)Cgg>Tgg		Homo sapiens chromosome 3 open reading frame 72 (C3orf72), mRNA.							12.0	17.0	15.0					3																	138669148		1574	3696	5270	SO:0001583	missense	401089							g.chr3:138669148C>T																												ENST00000383165.3:c.262C>T	3.37:g.138669148C>T	ENSP00000372651:p.Arg88Trp					AK304483_uc011bmr.2_3'UTR	p.R88W	NM_001040061	NP_001035150	Q6ZUU3	CC072_HUMAN			2	393	+			88					A6NGX0	Missense_Mutation	SNP	ENST00000383165.3	37	c.262C>T	CCDS43155.1	.	.	.	.	.	.	.	.	.	.	C	8.706	0.910914	0.17833	.	.	ENSG00000206262	ENST00000383165	.	.	.	0.985	-1.97	0.07503	.	.	.	.	.	T	0.18882	0.0453	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.17561	-1.0365	8	0.87932	D	0	.	2.2287	0.03991	0.256:0.4162:0.0:0.3278	.	88	Q6ZUU3	CC072_HUMAN	W	88	.	ENSP00000372651:R88W	R	+	1	2	C3orf72	140151838	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.082000	0.01365	-1.225000	0.02578	0.305000	0.20034	CGG		0.692	C3orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357986.1		
SUCNR1	56670	broad.mit.edu	37	3	151598459	151598459	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr3:151598459T>C	ENST00000362032.5	+	3	233	c.128T>C	c.(127-129)aTt>aCt	p.I43T	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	43						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	GGAAATACCATTGTTGTTTAC	0.433																																						uc003ezf.2																			0				endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(127-129)aTt>aCt		Homo sapiens succinate receptor 1 (SUCNR1), mRNA.	Succinic acid(DB00139)						188.0	197.0	194.0					3																	151598459		2203	4300	6503	SO:0001583	missense	56670					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:151598459T>C	AF348078	CCDS3162.1	3q25.1	2012-08-21	2004-07-08	2004-07-09	ENSG00000198829	ENSG00000198829		"""GPCR / Class A : Orphans"""	4542	protein-coding gene	gene with protein product		606381	"""G protein-coupled receptor 91"""	GPR91		11273702, 15141213, 17192395	Standard	NM_033050		Approved		uc003ezf.2	Q9BXA5	OTTHUMG00000159880	ENST00000362032.5:c.128T>C	3.37:g.151598459T>C	ENSP00000355156:p.Ile43Thr						p.I43T	NM_033050	NP_149039	Q9BXA5	SUCR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		2	233	+			43					A8K305|Q8TDQ8	Missense_Mutation	SNP	ENST00000362032.5	37	c.128T>C	CCDS3162.1	.	.	.	.	.	.	.	.	.	.	T	0.189	-1.054847	0.01965	.	.	ENSG00000198829	ENST00000362032	T	0.72282	-0.64	5.27	-3.46	0.04767	GPCR, rhodopsin-like superfamily (1);	1.290650	0.05170	N	0.499470	T	0.46502	0.1396	N	0.01817	-0.705	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.31668	-0.9935	10	0.38643	T	0.18	.	15.1187	0.72426	0.0:0.2351:0.0:0.7649	.	43	Q9BXA5	SUCR1_HUMAN	T	43	ENSP00000355156:I43T	ENSP00000355156:I43T	I	+	2	0	SUCNR1	153081149	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	0.052000	0.14163	-1.064000	0.03172	-0.256000	0.11100	ATT		0.433	SUCNR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357897.2	NM_033050	
ZNF732	654254	broad.mit.edu	37	4	266352	266352	+	Silent	SNP	A	A	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr4:266352A>G	ENST00000419098.1	-	4	304	c.294T>C	c.(292-294)ctT>ctC	p.L98L		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	98					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)	3						TTCTTAATATAAGTTTGTGGA	0.328																																						uc021xka.1																			0				endometrium(1)|lung(2)	3						c.(292-294)ctT>ctC		Homo sapiens zinc finger protein 732 (ZNF732), mRNA.							67.0	53.0	57.0					4																	266352		692	1589	2281	SO:0001819	synonymous_variant	654254				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:266352A>G	AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777		"""Zinc fingers, C2H2-type"", ""-"""	37138	protein-coding gene	gene with protein product							Standard	NM_001137608		Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.294T>C	4.37:g.266352A>G						ZNF732_uc011buu.1_Silent_p.L66L	p.L98L	NM_001137608	NP_001131080	B4DXR9	ZN732_HUMAN			3	294	-			98						Silent	SNP	ENST00000419098.1	37	c.294T>C	CCDS46990.1																																																																																				0.328	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000357937.2	NM_001137608	
WDR19	57728	broad.mit.edu	37	4	39267694	39267694	+	Silent	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr4:39267694C>T	ENST00000399820.3	+	29	3349	c.3195C>T	c.(3193-3195)gcC>gcT	p.A1065A	WDR19_ENST00000288634.7_Silent_p.A905A	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	1065					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						TTGGTCAGGCCAAAGATGAAC	0.473																																						uc003gtv.3																			0				large_intestine(1)	1						c.(3193-3195)gcC>gcT		Homo sapiens WD repeat domain 19 (WDR19), mRNA.							61.0	60.0	60.0					4																	39267694		1912	4123	6035	SO:0001819	synonymous_variant	57728				cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding	g.chr4:39267694C>T	AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	18340	protein-coding gene	gene with protein product	"""intraflagellar transport 144 homolog (Chlamydomonas)"""	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.3195C>T	4.37:g.39267694C>T						WDR19_uc011byi.2_Silent_p.A905A|WDR19_uc003gtw.1_Silent_p.A662A	p.A1065A	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN			28	3349	+			1065					B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Silent	SNP	ENST00000399820.3	37	c.3195C>T	CCDS47042.1																																																																																				0.473	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1		
GUCY1B3	2983	broad.mit.edu	37	4	156721201	156721201	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr4:156721201G>T	ENST00000264424.8	+	9	1232	c.1150G>T	c.(1150-1152)Gaa>Taa	p.E384*	GUCY1B3_ENST00000505154.1_Nonsense_Mutation_p.E316*|GUCY1B3_ENST00000505764.1_Nonsense_Mutation_p.E364*|GUCY1B3_ENST00000502959.1_Nonsense_Mutation_p.E406*|GUCY1B3_ENST00000503520.1_Nonsense_Mutation_p.E384*|GUCY1B3_ENST00000507146.1_Nonsense_Mutation_p.E316*|GUCY1B3_ENST00000513437.1_Nonsense_Mutation_p.E316*	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	384					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		AAGAGCCCTGGAAGATGAAAA	0.393																																						uc003ipc.3																			0		p.L383L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1150-1152)Gaa>Taa		Homo sapiens guanylate cyclase 1, soluble, beta 3 (GUCY1B3), mRNA.							90.0	89.0	89.0					4																	156721201		1896	4118	6014	SO:0001587	stop_gained	2983				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity	g.chr4:156721201G>T	AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.1150G>T	4.37:g.156721201G>T	ENSP00000264424:p.Glu384*					GUCY1B3_uc011cio.2_Nonsense_Mutation_p.E406*|GUCY1B3_uc011cip.2_Nonsense_Mutation_p.E364*|GUCY1B3_uc003ipd.3_Nonsense_Mutation_p.E312*|GUCY1B3_uc010iqf.3_Nonsense_Mutation_p.E384*|GUCY1B3_uc010iqg.3_Nonsense_Mutation_p.E312*|GUCY1B3_uc011ciq.2_Nonsense_Mutation_p.E312*	p.E384*	NM_000857	NP_000848	Q02153	GCYB1_HUMAN		COAD - Colon adenocarcinoma(41;0.148)	8	1317	+	all_hematologic(180;0.24)	Renal(120;0.0854)	384					B7Z426|Q86WY5	Nonsense_Mutation	SNP	ENST00000264424.8	37	c.1150G>T	CCDS47154.1	.	.	.	.	.	.	.	.	.	.	G	38	6.970294	0.97971	.	.	ENSG00000061918	ENST00000505154;ENST00000502959;ENST00000505764;ENST00000507146;ENST00000264424;ENST00000503520;ENST00000513437	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	20.3052	0.98627	0.0:0.0:1.0:0.0	.	.	.	.	X	316;406;364;316;384;384;316	.	ENSP00000264424:E384X	E	+	1	0	GUCY1B3	156940651	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.808000	0.96608	0.655000	0.94253	GAA		0.393	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365770.2		
ICE1	23379	broad.mit.edu	37	5	5464090	5464090	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr5:5464090C>G	ENST00000296564.7	+	13	4865	c.4643C>G	c.(4642-4644)cCa>cGa	p.P1548R		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1548					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AAACTAGAGCCATCTGGCAAA	0.358																																						uc003jdm.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(4642-4644)cCa>cGa		Homo sapiens KIAA0947 (KIAA0947), mRNA.							43.0	40.0	41.0					5																	5464090		1833	4092	5925	SO:0001583	missense	23379							g.chr5:5464090C>G																												ENST00000296564.7:c.4643C>G	5.37:g.5464090C>G	ENSP00000296564:p.Pro1548Arg						p.P1548R	NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN			12	4865	+			1548					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	c.4643C>G	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.926172	0.73327	.	.	ENSG00000164151	ENST00000296564	T	0.13420	2.59	5.27	5.27	0.74061	.	.	.	.	.	T	0.25644	0.0624	L	0.29908	0.895	0.41607	D	0.988885	D	0.89917	1.0	D	0.77004	0.989	T	0.01249	-1.1406	9	0.54805	T	0.06	-9.5664	14.3822	0.66919	0.0:1.0:0.0:0.0	.	1548	Q9Y2F5	K0947_HUMAN	R	1548	ENSP00000296564:P1548R	ENSP00000296564:P1548R	P	+	2	0	KIAA0947	5517090	0.380000	0.25131	0.905000	0.35620	0.966000	0.64601	1.745000	0.38278	2.453000	0.82957	0.460000	0.39030	CCA		0.358	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1		
BDP1	55814	broad.mit.edu	37	5	70806902	70806902	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr5:70806902C>A	ENST00000358731.4	+	17	4246	c.3983C>A	c.(3982-3984)aCc>aAc	p.T1328N	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1328					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GAGACCAGTACCTCAAGACAA	0.408																																						uc003kbp.1																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(3982-3984)aCc>aAc		Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.							118.0	112.0	114.0					5																	70806902		1913	4125	6038	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70806902C>A	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.3983C>A	5.37:g.70806902C>A	ENSP00000351575:p.Thr1328Asn					BDP1_uc003kbn.1_Missense_Mutation_p.T1328N|BDP1_uc003kbo.3_Missense_Mutation_p.T1328N	p.T1328N	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	16	4246	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	1328					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.3983C>A	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.722144	0.48728	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.11277	2.79	3.24	1.46	0.22682	.	1.251600	0.05849	N	0.620895	T	0.22551	0.0544	L	0.51422	1.61	0.18873	N	0.999986	D;D;D	0.67145	0.98;0.996;0.991	P;P;P	0.62184	0.744;0.899;0.852	T	0.14504	-1.0470	10	0.62326	D	0.03	.	5.4458	0.16535	0.0:0.7377:0.0:0.2623	.	1328;1328;1328	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	N	1328;908	ENSP00000351575:T1328N	ENSP00000351575:T1328N	T	+	2	0	BDP1	70842658	0.000000	0.05858	0.065000	0.19835	0.208000	0.24298	-0.243000	0.08915	0.412000	0.25729	-0.379000	0.06801	ACC		0.408	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429	
SV2C	22987	broad.mit.edu	37	5	75428010	75428010	+	Silent	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr5:75428010C>T	ENST00000502798.2	+	2	877	c.435C>T	c.(433-435)tgC>tgT	p.C145C	SV2C_ENST00000322285.7_Silent_p.C145C	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	145					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TCCAAGAATGCGGTCATGGTC	0.537																																						uc003kei.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(433-435)tgC>tgT		Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.							199.0	198.0	198.0					5																	75428010		2039	4185	6224	SO:0001819	synonymous_variant	22987				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr5:75428010C>T	AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.435C>T	5.37:g.75428010C>T							p.C145C	NM_014979	NP_055794	Q496J9	SV2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)	1	569	+		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)	145					Q496K1|Q9UPU8	Silent	SNP	ENST00000502798.2	37	c.435C>T	CCDS43331.1																																																																																				0.537	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368700.4		
FAM81B	153643	broad.mit.edu	37	5	94749868	94749868	+	Missense_Mutation	SNP	G	G	A	rs577772054		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr5:94749868G>A	ENST00000283357.5	+	4	557	c.511G>A	c.(511-513)Gtc>Atc	p.V171I		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	171						nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		CACCAGCATCGTCAAAAAACT	0.418													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19173	0.0		0.0	False		,,,				2504	0.0					uc003kla.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(511-513)Gtc>Atc		Homo sapiens family with sequence similarity 81, member B (FAM81B), mRNA.							97.0	93.0	95.0					5																	94749868		1920	4138	6058	SO:0001583	missense	153643							g.chr5:94749868G>A		CCDS43341.1	5q15	2008-02-05			ENSG00000153347	ENSG00000153347			26335	protein-coding gene	gene with protein product							Standard	NM_152548		Approved	FLJ25333	uc003kla.1	Q96LP2	OTTHUMG00000162837	ENST00000283357.5:c.511G>A	5.37:g.94749868G>A	ENSP00000283357:p.Val171Ile					FAM81B_uc010jbe.1_5'UTR	p.V171I	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN		all cancers(79;1.04e-16)	3	557	+		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)	171						Missense_Mutation	SNP	ENST00000283357.5	37	c.511G>A	CCDS43341.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756283	0.89843	.	.	ENSG00000153347	ENST00000283357	T	0.35605	1.3	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.62648	0.2445	M	0.79258	2.445	0.37653	D	0.922469	D	0.89917	1.0	D	0.81914	0.995	T	0.66575	-0.5889	10	0.45353	T	0.12	-15.959	18.2543	0.90014	0.0:0.0:1.0:0.0	.	171	Q96LP2	FA81B_HUMAN	I	171	ENSP00000283357:V171I	ENSP00000283357:V171I	V	+	1	0	FAM81B	94775624	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.619000	0.83057	2.602000	0.87976	0.650000	0.86243	GTC		0.418	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370690.1	NM_152548	
PCDHA1	56147	broad.mit.edu	37	5	140166149	140166149	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr5:140166149C>T	ENST00000504120.2	+	1	274	c.274C>T	c.(274-276)Cgc>Tgc	p.R92C	PCDHA1_ENST00000394633.3_Missense_Mutation_p.R92C|PCDHA1_ENST00000378133.3_Missense_Mutation_p.R92C	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	92	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGATCGATCGCGAGGAGCT	0.567																																						uc003lhb.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(274-276)Cgc>Tgc		Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.							86.0	91.0	89.0					5																	140166149		2203	4300	6503	SO:0001583	missense	56147				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140166149C>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.274C>T	5.37:g.140166149C>T	ENSP00000420840:p.Arg92Cys					PCDHAC2_uc003lha.2_Missense_Mutation_p.R92C|PCDHAC2_uc003lgz.3_Missense_Mutation_p.R92C	p.R92C	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	274	+			107			Cadherin 1.		O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.274C>T	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	c	12.89	2.073762	0.36566	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.54071	0.59;0.59;0.59	4.31	4.31	0.51392	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.000000	0.40144	U	0.001170	D	0.83501	0.5268	H	0.99634	4.67	0.42535	D	0.993053	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.89168	0.3535	10	0.87932	D	0	.	11.246	0.48998	0.3204:0.6796:0.0:0.0	.	92;92;92	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	C	92	ENSP00000420840:R92C;ENSP00000378129:R92C;ENSP00000367373:R92C	ENSP00000367373:R92C	R	+	1	0	PCDHA1	140146333	0.990000	0.36364	0.996000	0.52242	0.075000	0.17131	0.554000	0.23407	2.127000	0.65507	0.650000	0.86243	CGC		0.567	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900	
MED7	9443	broad.mit.edu	37	5	156565766	156565766	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr5:156565766A>G	ENST00000286317.5	-	2	1058	c.677T>C	c.(676-678)aTt>aCt	p.I226T	MED7_ENST00000420343.1_Missense_Mutation_p.I226T	NM_004270.4	NP_004261.1	O43513	MED7_HUMAN	mediator complex subunit 7	226					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CATCTCATCAATTAGGACACA	0.323																																						uc010jik.3																			0				kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7						c.(676-678)aTt>aCt		Homo sapiens mediator complex subunit 7 (MED7), transcript variant 1, mRNA.							155.0	151.0	152.0					5																	156565766		2203	4300	6503	SO:0001583	missense	9443				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity	g.chr5:156565766A>G	AF104251	CCDS4334.1	5q33.3	2008-02-05	2007-07-30	2007-07-30	ENSG00000155868	ENSG00000155868			2378	protein-coding gene	gene with protein product		605045	"""cofactor required for Sp1 transcriptional activation, subunit 9, 33kDa"""	CRSP9		9989412	Standard	NM_004270		Approved	CRSP33	uc003lwm.4	O43513	OTTHUMG00000130243	ENST00000286317.5:c.677T>C	5.37:g.156565766A>G	ENSP00000286317:p.Ile226Thr					MED7_uc003lwm.4_Missense_Mutation_p.I226T|MED7_uc021ygl.1_Missense_Mutation_p.I226T	p.I226T	NM_001100816	NP_004261	O43513	MED7_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	1069	-	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	226						Missense_Mutation	SNP	ENST00000286317.5	37	c.677T>C	CCDS4334.1	.	.	.	.	.	.	.	.	.	.	A	11.62	1.693322	0.30052	.	.	ENSG00000155868	ENST00000286317;ENST00000420343	.	.	.	5.81	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.52677	0.1749	L	0.39898	1.24	0.80722	D	1	B	0.15930	0.015	B	0.12837	0.008	T	0.47394	-0.9121	9	0.45353	T	0.12	-5.3088	11.8391	0.52344	0.9317:0.0:0.0683:0.0	.	226	O43513	MED7_HUMAN	T	226	.	ENSP00000286317:I226T	I	-	2	0	MED7	156498344	1.000000	0.71417	0.989000	0.46669	0.972000	0.66771	8.700000	0.91322	1.019000	0.39547	0.533000	0.62120	ATT		0.323	MED7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252567.2	NM_004270	
ADAMTS2	9509	broad.mit.edu	37	5	178581109	178581109	+	Silent	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr5:178581109G>A	ENST00000251582.7	-	8	1424	c.1323C>T	c.(1321-1323)gcC>gcT	p.A441A	ADAMTS2_ENST00000274609.5_Silent_p.A441A	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	441	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GGTGGAAGGCGGCCTGCACCA	0.711																																						uc003mjw.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(1321-1323)gcC>gcT		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.							19.0	19.0	19.0					5																	178581109		2198	4296	6494	SO:0001819	synonymous_variant	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178581109G>A	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.1323C>T	5.37:g.178581109G>A						ADAMTS2_uc011dgm.2_Silent_p.A441A	p.A441A	NM_014244	NP_055059	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	7	1425	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	441			Peptidase M12B.			Silent	SNP	ENST00000251582.7	37	c.1323C>T	CCDS4444.1																																																																																				0.711	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244	
MUT	4594	broad.mit.edu	37	6	49419405	49419405	+	Missense_Mutation	SNP	C	C	T	rs564069299		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr6:49419405C>T	ENST00000274813.3	-	6	1233	c.1106G>A	c.(1105-1107)cGt>cAt	p.R369H		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	369			R -> C (in MMAM; mut0). {ECO:0000269|PubMed:16281286}.|R -> H (in MMAM; mut- and mut0). {ECO:0000269|PubMed:16281286, ECO:0000269|PubMed:9285782}.		cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TATTGCAGTACGGACAATATT	0.348																																						uc003ozg.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	GRCh37	CM990882	MUT	M		c.(1105-1107)cGt>cAt		Homo sapiens methylmalonyl CoA mutase (MUT), nuclear gene encoding mitochondrial protein, mRNA.	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						59.0	54.0	56.0					6																	49419405		2203	4300	6503	SO:0001583	missense	4594				fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity	g.chr6:49419405C>T		CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"""methylmalonyl Coenzyme A mutase"""			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.1106G>A	6.37:g.49419405C>T	ENSP00000274813:p.Arg369His						p.R369H	NM_000255	NP_000246	P22033	MUTA_HUMAN			5	1371	-	Lung NSC(77;0.0376)		369		R -> C (in MMAM; mut0).|R -> H (in MMAM; mut- and mut0).			A8K953|Q5SYZ3|Q96B11|Q9UD64	Missense_Mutation	SNP	ENST00000274813.3	37	c.1106G>A	CCDS4924.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.009540	0.93346	.	.	ENSG00000146085	ENST00000274813	D	0.99652	-6.3	5.05	5.05	0.67936	Cobalamin (vitamin B12)-dependent enzyme, catalytic (1);Cobalamin (vitamin B12)-dependent enzyme, catalytic subdomain (1);Methylmalonyl-CoA mutase, alpha/beta chain, catalytic (1);Methylmalonyl-CoA mutase, alpha chain, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.99876	0.9941	H	0.99659	4.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96114	0.9079	10	0.87932	D	0	-8.1074	17.3928	0.87437	0.0:1.0:0.0:0.0	.	369	P22033	MUTA_HUMAN	H	369	ENSP00000274813:R369H	ENSP00000274813:R369H	R	-	2	0	MUT	49527364	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.818000	0.86416	2.347000	0.79759	0.467000	0.42956	CGT		0.348	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040854.1		
ZNF451	26036	broad.mit.edu	37	6	56963890	56963890	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr6:56963890T>C	ENST00000370706.4	+	3	381	c.137T>C	c.(136-138)aTt>aCt	p.I46T	ZNF451_ENST00000370710.6_Missense_Mutation_p.I46T|ZNF451_ENST00000370702.1_Missense_Mutation_p.I46T|ZNF451_ENST00000491832.2_Missense_Mutation_p.I46T|ZNF451_ENST00000357489.3_Missense_Mutation_p.I46T|ZNF451_ENST00000510989.1_3'UTR|ZNF451_ENST00000370708.4_Missense_Mutation_p.I46T	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	46					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CTTGAATACATTGATCTGGTC	0.338																																						uc003pdm.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(136-138)aTt>aCt		Homo sapiens zinc finger protein 451 (ZNF451), transcript variant 1, mRNA.							207.0	188.0	195.0					6																	56963890		2203	4300	6503	SO:0001583	missense	26036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:56963890T>C	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.137T>C	6.37:g.56963890T>C	ENSP00000359740:p.Ile46Thr					ZNF451_uc003pdl.3_Missense_Mutation_p.I46T|ZNF451_uc003pdn.1_Missense_Mutation_p.I46T|ZNF451_uc011dxn.2_Missense_Mutation_p.I46T|ZNF451_uc003pdk.1_Missense_Mutation_p.I46T|ZNF451_uc003pdo.3_Non-coding_Transcript|ZNF451_uc003pdp.3_5'Flank	p.I46T	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		2	361	+	Lung NSC(77;0.145)		46					Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	ENST00000370706.4	37	c.137T>C	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.110651	0.77210	.	.	ENSG00000112200	ENST00000510483;ENST00000370706;ENST00000357489;ENST00000370708;ENST00000370702;ENST00000508603;ENST00000491832;ENST00000370710	T;T;T;T;T;T;T	0.76709	3.07;3.07;3.07;-1.04;3.07;3.07;3.07	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.84000	0.5376	M	0.71581	2.175	0.51233	D	0.999918	P;D;D;D;D	0.89917	0.831;1.0;1.0;1.0;1.0	P;D;D;D;D	0.91635	0.824;0.999;0.997;0.999;0.997	D	0.86495	0.1800	10	0.87932	D	0	-20.0448	12.7987	0.57573	0.0:0.0:0.0:1.0	.	46;46;46;46;46	Q9Y4E5-4;Q9Y4E5-2;Q9Y4E5;E9PH99;Q4KMR5	.;.;ZN451_HUMAN;.;.	T	18;46;46;46;46;18;46;46	ENSP00000427558:I18T;ENSP00000359740:I46T;ENSP00000350083:I46T;ENSP00000359742:I46T;ENSP00000359736:I46T;ENSP00000421645:I46T;ENSP00000359744:I46T	ENSP00000350083:I46T	I	+	2	0	ZNF451	57071849	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.248000	0.58760	2.272000	0.75746	0.460000	0.39030	ATT		0.338	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555	
SIM1	6492	broad.mit.edu	37	6	100896122	100896122	+	Silent	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr6:100896122C>T	ENST00000369208.3	-	8	1532	c.750G>A	c.(748-750)gcG>gcA	p.A250A	SIM1_ENST00000262901.4_Silent_p.A250A			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	250	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CCGTCAGCTCCGCCACCCTGA	0.627																																						uc003pqj.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(748-750)gcG>gcA		Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.							102.0	76.0	85.0					6																	100896122		2203	4300	6503	SO:0001819	synonymous_variant	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100896122C>T	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.750G>A	6.37:g.100896122C>T						SIM1_uc021zdg.1_Silent_p.A250A|SIM1_uc010kcu.3_Silent_p.A250A	p.A250A	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	6	1217	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	250			PAS 2.		Q5TDP7	Silent	SNP	ENST00000369208.3	37	c.750G>A	CCDS5045.1																																																																																				0.627	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068	
AIM1	202	broad.mit.edu	37	6	107008787	107008787	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr6:107008787C>T	ENST00000369066.3	+	17	5228	c.4741C>T	c.(4741-4743)Cga>Tga	p.R1581*	AIM1_ENST00000535438.1_Nonsense_Mutation_p.R400*	NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AGGTTCTCTACGACCTTTTGT	0.378																																						uc003prh.3																			0		p.R1581Q(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(4741-4743)Cga>Tga		Homo sapiens absent in melanoma 1 (AIM1), mRNA.							155.0	156.0	156.0					6																	107008787		2203	4300	6503	SO:0001587	stop_gained	202						sugar binding	g.chr6:107008787C>T	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.4741C>T	6.37:g.107008787C>T	ENSP00000358062:p.Arg1581*					AIM1_uc003pri.3_Nonsense_Mutation_p.R385*	p.R1581*	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	16	5653	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	1581			Beta/gamma crystallin 'Greek key' 12.		Q6P2P0|Q9BTM3	Nonsense_Mutation	SNP	ENST00000369066.3	37	c.4741C>T	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	C	47	13.806019	0.99764	.	.	ENSG00000112297	ENST00000369066;ENST00000535438	.	.	.	6.06	0.229	0.15368	.	0.000000	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2426	0.54551	0.4448:0.4928:0.0:0.0623	.	.	.	.	X	1581;400	.	ENSP00000358062:R1581X	R	+	1	2	AIM1	107115480	0.907000	0.30839	0.800000	0.32199	0.993000	0.82548	1.728000	0.38105	0.093000	0.17368	0.655000	0.94253	CGA		0.378	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1		
HECA	51696	broad.mit.edu	37	6	139488187	139488187	+	Silent	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr6:139488187G>A	ENST00000367658.2	+	2	1323	c.1038G>A	c.(1036-1038)cgG>cgA	p.R346R	RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	346					respiratory tube development (GO:0030323)	membrane (GO:0016020)				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		TCCTTCGGCGGCTGGACCTCT	0.597																																						uc003qin.3																			0		p.R346W(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15						c.(1036-1038)cgG>cgA		Homo sapiens headcase homolog (Drosophila) (HECA), mRNA.							59.0	56.0	57.0					6																	139488187		2203	4300	6503	SO:0001819	synonymous_variant	51696				respiratory tube development			g.chr6:139488187G>A	AB033492	CCDS5194.1	6q23-q24	2010-11-25			ENSG00000112406	ENSG00000112406			21041	protein-coding gene	gene with protein product		607977				11696983, 19643820	Standard	NM_016217		Approved	HDCL, hHDC, HDC, dJ225E12.1	uc003qin.3	Q9UBI9	OTTHUMG00000015686	ENST00000367658.2:c.1038G>A	6.37:g.139488187G>A							p.R346R	NM_016217	NP_057301	Q9UBI9	HDC_HUMAN		GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)	1	1323	+			346						Silent	SNP	ENST00000367658.2	37	c.1038G>A	CCDS5194.1																																																																																				0.597	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042456.1	NM_016217	
SNX9	51429	broad.mit.edu	37	6	158357061	158357061	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr6:158357061G>T	ENST00000392185.3	+	14	1603	c.1432G>T	c.(1432-1434)Gtg>Ttg	p.V478L	RNU6-786P_ENST00000516849.1_RNA	NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	478	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|lipid tube assembly (GO:0060988)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein oligomerization (GO:0032461)|receptor-mediated endocytosis (GO:0006898)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	1-phosphatidylinositol binding (GO:0005545)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		TGCCAGTCTCGTGGCAGAACA	0.348																																						uc003qqv.1																			0		p.V478V(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1432-1434)Gtg>Ttg		Homo sapiens sorting nexin 9 (SNX9), mRNA.							74.0	68.0	70.0					6																	158357061		2203	4300	6503	SO:0001583	missense	51429				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding	g.chr6:158357061G>T	AF121859	CCDS5253.1	6q25.1-q26	2008-05-22			ENSG00000130340	ENSG00000130340		"""Sorting nexins"""	14973	protein-coding gene	gene with protein product		605952				10531379, 17609109	Standard	NM_016224		Approved	SH3PX1, SDP1, SH3PXD3A	uc003qqv.1	Q9Y5X1	OTTHUMG00000015903	ENST00000392185.3:c.1432G>T	6.37:g.158357061G>T	ENSP00000376024:p.Val478Leu						p.V478L	NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)	13	1605	+		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)	478			BAR.		Q9BSI7|Q9BVM1|Q9UJH6|Q9UP20	Missense_Mutation	SNP	ENST00000392185.3	37	c.1432G>T	CCDS5253.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.652529	0.88056	.	.	ENSG00000130340	ENST00000539592;ENST00000392185;ENST00000252631	T	0.39056	1.1	5.42	4.53	0.55603	Sorting nexin protein, WASP-binding domain (1);	0.127264	0.52532	D	0.000074	T	0.36717	0.0977	L	0.51422	1.61	0.80722	D	1	D	0.53151	0.958	P	0.48770	0.589	T	0.38415	-0.9662	10	0.72032	D	0.01	-0.9508	16.0164	0.80443	0.0:0.135:0.8649:0.0	.	478	Q9Y5X1	SNX9_HUMAN	L	478;478;278	ENSP00000376024:V478L	ENSP00000252631:V278L	V	+	1	0	SNX9	158277049	1.000000	0.71417	0.989000	0.46669	0.943000	0.58893	8.967000	0.93402	2.045000	0.60652	0.533000	0.62120	GTG		0.348	SNX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042856.1		
STK31	56164	broad.mit.edu	37	7	23827708	23827708	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr7:23827708A>G	ENST00000355870.3	+	21	2716	c.2597A>G	c.(2596-2598)gAa>gGa	p.E866G	STK31_ENST00000433467.2_Missense_Mutation_p.E866G|STK31_ENST00000354639.3_Missense_Mutation_p.E843G|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.E843G	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	866	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTAAACCGTGAACAAGGAATT	0.353																																						uc003sws.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(2596-2598)gAa>gGa		Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.							115.0	107.0	110.0					7																	23827708		2203	4300	6503	SO:0001583	missense	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23827708A>G	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.2597A>G	7.37:g.23827708A>G	ENSP00000348132:p.Glu866Gly					STK31_uc003swt.4_Missense_Mutation_p.E843G|STK31_uc011jze.2_Missense_Mutation_p.E866G|STK31_uc010kuq.3_Missense_Mutation_p.E843G|STK31_uc003swv.1_Missense_Mutation_p.E32G	p.E866G	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN			20	2664	+			866			Protein kinase.		B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	c.2597A>G	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	A	15.26	2.779747	0.49891	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.68624	-0.34;2.44;-0.34;-0.34	5.94	5.94	0.96194	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.115012	0.56097	D	0.000030	T	0.62171	0.2406	N	0.20574	0.59	0.38119	D	0.937797	P;P;P	0.51147	0.942;0.722;0.549	P;P;B	0.54759	0.76;0.506;0.425	T	0.62955	-0.6744	10	0.24483	T	0.36	-11.0181	11.7901	0.52065	0.8685:0.0:0.0:0.1315	.	866;866;866	B4DZ06;A4D159;Q9BXU1	.;.;STK31_HUMAN	G	866;866;843;843	ENSP00000348132:E866G;ENSP00000411852:E866G;ENSP00000346660:E843G;ENSP00000406146:E843G	ENSP00000346660:E843G	E	+	2	0	STK31	23794233	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.293000	0.65680	2.275000	0.75901	0.528000	0.53228	GAA		0.353	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414	
SUGCT	79783	broad.mit.edu	37	7	40356417	40356417	+	Missense_Mutation	SNP	G	G	A	rs192547523		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr7:40356417G>A	ENST00000335693.4	+	9	823	c.800G>A	c.(799-801)cGt>cAt	p.R267H	C7orf10_ENST00000401647.2_Missense_Mutation_p.R219H|C7orf10_ENST00000309930.5_Missense_Mutation_p.R267H	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		267					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						GAAGCAAAACGTTGGGGTACA	0.388													G|||	1	0.000199681	0.0	0.0	5008	,	,		16694	0.001		0.0	False		,,,				2504	0.0					uc022acd.1																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						c.(799-801)cGt>cAt		Homo sapiens chromosome 7 open reading frame 10 (C7orf10), transcript variant 1, mRNA.							77.0	77.0	77.0					7																	40356417		1874	4120	5994	SO:0001583	missense	79783						transferase activity	g.chr7:40356417G>A																												ENST00000335693.4:c.800G>A	7.37:g.40356417G>A	ENSP00000338475:p.Arg267His					C7orf10_uc003thn.2_Missense_Mutation_p.R267H|C7orf10_uc003tho.2_Missense_Mutation_p.R219H	p.R267H	NM_001193311	NP_001180240	Q9HAC7	CG010_HUMAN			8	824	+			267					A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Missense_Mutation	SNP	ENST00000335693.4	37	c.800G>A	CCDS55105.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	G|G	16.56|16.56	3.156791|3.156791	0.57259|0.57259	.|.	.|.	ENSG00000175600|ENSG00000175600	ENST00000309930;ENST00000401647;ENST00000335693|ENST00000416370	T;T;T|.	0.60797|.	0.16;0.16;0.16|.	5.45|5.45	3.66|3.66	0.41972|0.41972	CoA-transferase family III domain (2);|.	0.050749|.	0.85682|.	D|.	0.000000|.	T|T	0.76176|0.76176	0.3951|0.3951	H|H	0.96208|0.96208	3.785|3.785	0.27632|0.27632	N|N	0.948005|0.948005	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.999;0.998|.	T|T	0.71031|0.71031	-0.4710|-0.4710	10|5	0.87932|.	D|.	0|.	-2.9633|-2.9633	9.8616|9.8616	0.41118|0.41118	0.1576:0.0:0.8424:0.0|0.1576:0.0:0.8424:0.0	.|.	219;267;230|.	Q4KMW8;Q9HAC7;Q9HAC7-2|.	.;CG010_HUMAN;.|.	H|I	267;219;267|262	ENSP00000312054:R267H;ENSP00000385222:R219H;ENSP00000338475:R267H|.	ENSP00000312054:R267H|.	R|V	+|+	2|1	0|0	C7orf10|C7orf10	40322942|40322942	0.991000|0.991000	0.36638|0.36638	0.017000|0.017000	0.16124|0.16124	0.838000|0.838000	0.47535|0.47535	4.917000|4.917000	0.63369|0.63369	0.787000|0.787000	0.33731|0.33731	0.557000|0.557000	0.71058|0.71058	CGT|GTT		0.388	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1		
MUC17	140453	broad.mit.edu	37	7	100679249	100679249	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr7:100679249A>G	ENST00000306151.4	+	3	4616	c.4552A>G	c.(4552-4554)Agt>Ggt	p.S1518G		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1518	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGCATTAACAAGTATACCTGT	0.483																																						uc003uxp.1																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(4552-4554)Agt>Ggt		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.							228.0	207.0	214.0					7																	100679249		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679249A>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4552A>G	7.37:g.100679249A>G	ENSP00000302716:p.Ser1518Gly					MUC17_uc010lho.1_Non-coding_Transcript	p.S1518G	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			2	4605	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1518			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.4552A>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	1.167	-0.641985	0.03531	.	.	ENSG00000169876	ENST00000306151	T	0.02032	4.49	0.462	-0.704	0.11256	.	.	.	.	.	T	0.01558	0.0050	N	0.19112	0.55	0.09310	N	1	B	0.12630	0.006	B	0.01281	0.0	T	0.47142	-0.9140	8	0.32370	T	0.25	.	.	.	.	.	1518	Q685J3	MUC17_HUMAN	G	1518	ENSP00000302716:S1518G	ENSP00000302716:S1518G	S	+	1	0	MUC17	100465969	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-1.435000	0.02423	-0.295000	0.08960	0.102000	0.15555	AGT		0.483	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
KCNU1	157855	broad.mit.edu	37	8	36768588	36768588	+	Silent	SNP	C	C	T	rs368687816		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr8:36768588C>T	ENST00000399881.3	+	22	2509	c.2472C>T	c.(2470-2472)atC>atT	p.I824I		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	824					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CCCTCACCATCGGATCCTTGC	0.512																																						uc010lvw.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(2470-2472)atC>atT		Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.		C		0,4064		0,0,2032	87.0	89.0	88.0		2472	-5.9	0.0	8		88	1,8405		0,1,4202	no	coding-synonymous	KCNU1	NM_001031836.2		0,1,6234	TT,TC,CC		0.0119,0.0,0.0080		824/1150	36768588	1,12469	2032	4203	6235	SO:0001819	synonymous_variant	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36768588C>T	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2472C>T	8.37:g.36768588C>T						KCNU1_uc003xjw.2_Non-coding_Transcript	p.I824I	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	21	2559	+			824						Silent	SNP	ENST00000399881.3	37	c.2472C>T	CCDS55220.1																																																																																				0.512	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836	
ST18	9705	broad.mit.edu	37	8	53085003	53085003	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr8:53085003C>T	ENST00000276480.7	-	10	1101	c.418G>A	c.(418-420)Gta>Ata	p.V140I		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	140					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGAACAGATACATTTTTTTCA	0.383																																						uc003xqz.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(418-420)Gta>Ata		Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.							79.0	80.0	79.0					8																	53085003		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53085003C>T	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.418G>A	8.37:g.53085003C>T	ENSP00000276480:p.Val140Ile					ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.V105I|ST18_uc011lds.1_Missense_Mutation_p.V45I|ST18_uc003xra.2_Missense_Mutation_p.V140I|ST18_uc003xrb.2_Missense_Mutation_p.V140I	p.V140I	NM_014682	NP_055497	O60284	ST18_HUMAN			4	574	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	140					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.418G>A	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	C	2.870	-0.234274	0.05983	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.45276	0.92;0.9	5.39	0.345	0.16011	.	0.820645	0.11278	N	0.580692	T	0.20700	0.0498	N	0.08118	0	0.09310	N	1	B	0.17038	0.02	B	0.11329	0.006	T	0.18713	-1.0328	10	0.56958	D	0.05	-0.2999	5.7594	0.18190	0.0:0.533:0.1235:0.3435	.	140	O60284	ST18_HUMAN	I	140	ENSP00000276480:V140I;ENSP00000428521:V140I	ENSP00000276480:V140I	V	-	1	0	ST18	53247556	0.620000	0.27068	0.000000	0.03702	0.136000	0.21042	0.478000	0.22212	0.029000	0.15352	-0.136000	0.14681	GTA		0.383	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1		
NSMAF	8439	broad.mit.edu	37	8	59548070	59548070	+	Missense_Mutation	SNP	G	G	A	rs35436008		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr8:59548070G>A	ENST00000038176.3	-	3	397	c.185C>T	c.(184-186)tCg>tTg	p.S62L	NSMAF_ENST00000427130.2_Missense_Mutation_p.S93L	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	62					ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				AAAAATCACCGATTTTGAACA	0.323																																						uc011lee.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38						c.(277-279)tCg>tTg		Homo sapiens neutral sphingomyelinase (N-SMase) activation associated factor (NSMAF), transcript variant 2, mRNA.							86.0	97.0	93.0					8																	59548070		2203	4298	6501	SO:0001583	missense	8439				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity	g.chr8:59548070G>A	X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"""WD repeat domain containing"""	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.185C>T	8.37:g.59548070G>A	ENSP00000038176:p.Ser62Leu					NSMAF_uc003xtt.3_Missense_Mutation_p.S62L	p.S93L	NM_001144772	NP_001138244	Q92636	FAN_HUMAN			2	339	-		all_lung(136;0.174)|Lung NSC(129;0.2)	62					B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	ENST00000038176.3	37	c.278C>T	CCDS6173.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581489	0.86748	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	T;T	0.62105	0.07;0.05	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.81555	0.4847	M	0.84846	2.72	0.47994	D	0.999563	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.984;0.995	D	0.83383	0.0013	9	.	.	.	.	17.3541	0.87331	0.0:0.0:1.0:0.0	.	93;62;62	Q92636-2;A8K9G4;Q92636	.;.;FAN_HUMAN	L	62;93	ENSP00000038176:S62L;ENSP00000411012:S93L	.	S	-	2	0	NSMAF	59710624	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.754000	0.74909	2.525000	0.85131	0.585000	0.79938	TCG		0.323	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580	
SLCO5A1	81796	broad.mit.edu	37	8	70744273	70744273	+	Silent	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr8:70744273G>A	ENST00000260126.4	-	2	1342	c.636C>T	c.(634-636)ttC>ttT	p.F212F	SLCO5A1_ENST00000528658.1_5'UTR|RP11-159H10.3_ENST00000501104.2_RNA|SLCO5A1_ENST00000524945.1_Silent_p.F212F|SLCO5A1_ENST00000530307.1_Silent_p.F212F|RP11-159H10.3_ENST00000528800.2_RNA|RP11-159H10.3_ENST00000533300.1_RNA	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GAGGTAAGGCGAAGAGGGCTG	0.662																																						uc003xyl.3																			0		p.L211I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(634-636)ttC>ttT		Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.							21.0	25.0	24.0					8																	70744273		2202	4299	6501	SO:0001819	synonymous_variant	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70744273G>A	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.636C>T	8.37:g.70744273G>A						SLCO5A1_uc010lzb.3_Silent_p.F212F|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_Silent_p.F212F|SLCO5A1_uc010lzc.2_Silent_p.F212F	p.F212F	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		1	1343	-	Breast(64;0.0654)		212					A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Silent	SNP	ENST00000260126.4	37	c.636C>T	CCDS6205.1																																																																																				0.662	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958	
ASAP1	50807	broad.mit.edu	37	8	131414154	131414154	+	Silent	SNP	C	C	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr8:131414154C>A	ENST00000518721.1	-	2	263	c.36G>T	c.(34-36)tcG>tcT	p.S12S	ASAP1_ENST00000520625.1_5'UTR|ASAP1_ENST00000357668.1_Silent_p.S12S	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	12					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						AATCTCTCGACGAAAAACTGG	0.502																																						uc003yta.2																			0		p.F11L(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						c.(34-36)tcG>tcT		Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.							77.0	75.0	75.0					8																	131414154		2203	4300	6503	SO:0001819	synonymous_variant	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131414154C>A	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.36G>T	8.37:g.131414154C>A						ASAP1_uc011liw.2_5'UTR	p.S12S	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN			1	264	-			12					B2RNV3	Silent	SNP	ENST00000518721.1	37	c.36G>T	CCDS6362.1																																																																																				0.502	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482	
SLC45A4	57210	broad.mit.edu	37	8	142231734	142231734	+	Silent	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr8:142231734G>A	ENST00000024061.3	-	2	526	c.219C>T	c.(217-219)ctC>ctT	p.L73L	SLC45A4_ENST00000433583.2_Silent_p.L66L|SLC45A4_ENST00000519067.1_Silent_p.L73L|SLC45A4_ENST00000517878.1_Silent_p.L124L	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CGCAGAGGGCGAGGATGAAGG	0.612																																						uc003ywd.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(217-219)ctC>ctT		Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.							74.0	81.0	79.0					8																	142231734		2203	4300	6503	SO:0001819	synonymous_variant	57210				transport	integral to membrane		g.chr8:142231734G>A	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.219C>T	8.37:g.142231734G>A						SLC45A4_uc003ywc.1_Silent_p.L73L|SLC45A4_uc010meq.1_Silent_p.L71L	p.L73L	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		1	527	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		124					Q6ZRI2|Q9ULU3	Silent	SNP	ENST00000024061.3	37	c.219C>T	CCDS34948.1																																																																																				0.612	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325	
LRRC14	9684	broad.mit.edu	37	8	145746502	145746502	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr8:145746502G>C	ENST00000292524.1	+	4	1268	c.1122G>C	c.(1120-1122)gaG>gaC	p.E374D	LRRC14_ENST00000529022.1_Missense_Mutation_p.E374D	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	374										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			AGCTGACTGAGTGTCAGCTCG	0.597																																						uc003zdk.2																			0				endometrium(1)|lung(3)|prostate(1)	5						c.(1120-1122)gaG>gaC		Homo sapiens leucine rich repeat containing 14 (LRRC14), mRNA.							70.0	60.0	63.0					8																	145746502		2203	4299	6502	SO:0001583	missense	9684							g.chr8:145746502G>C	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179	ENST00000292524.1:c.1122G>C	8.37:g.145746502G>C	ENSP00000292524:p.Glu374Asp					LRRC14_uc003zdl.2_Missense_Mutation_p.E374D	p.E374D	NM_014665	NP_055480	Q15048	LRC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		3	1296	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		374					A8K0A8|D3DWM8	Missense_Mutation	SNP	ENST00000292524.1	37	c.1122G>C	CCDS6432.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.744199	0.30865	.	.	ENSG00000160959	ENST00000529022;ENST00000292524	T;T	0.51325	0.71;0.71	4.69	2.88	0.33553	.	0.119627	0.56097	D	0.000028	T	0.42698	0.1214	L	0.38838	1.175	0.31169	N	0.703419	D	0.62365	0.991	P	0.53593	0.73	T	0.41574	-0.9501	10	0.15066	T	0.55	.	7.9078	0.29771	0.091:0.1633:0.7457:0.0	.	374	Q15048	LRC14_HUMAN	D	374	ENSP00000434768:E374D;ENSP00000292524:E374D	ENSP00000292524:E374D	E	+	3	2	LRRC14	145717310	1.000000	0.71417	0.560000	0.28344	0.017000	0.09413	1.403000	0.34612	0.577000	0.29470	0.563000	0.77884	GAG		0.597	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665	
GDA	9615	broad.mit.edu	37	9	74863239	74863239	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr9:74863239C>T	ENST00000358399.3	+	14	1439	c.1346C>T	c.(1345-1347)cCg>cTg	p.P449L	GDA_ENST00000545168.1_Missense_Mutation_p.P375L|GDA_ENST00000376989.3_Missense_Mutation_p.P388L|GDA_ENST00000238018.4_Missense_Mutation_p.P449L|GDA_ENST00000376986.1_Missense_Mutation_p.P371L	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	449					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)	p.P449Q(2)		central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		CAGGTGGTTCCGTTTTCCAGC	0.443																																						uc004air.3																			2	Substitution - Missense(2)	p.P449Q(3)	lung(2)	central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32						c.(1345-1347)cCg>cTg		Homo sapiens guanine deaminase (GDA), transcript variant 1, mRNA.							121.0	121.0	121.0					9																	74863239		2203	4300	6503	SO:0001583	missense	9615				nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding	g.chr9:74863239C>T	AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.1346C>T	9.37:g.74863239C>T	ENSP00000351170:p.Pro449Leu					GDA_uc011lse.2_Missense_Mutation_p.P375L|GDA_uc004aiq.3_Missense_Mutation_p.P449L|GDA_uc010mow.2_Non-coding_Transcript|GDA_uc011lsf.2_Missense_Mutation_p.P375L|GDA_uc004ais.3_Missense_Mutation_p.P371L	p.P449L	NM_001242505	NP_001229434	Q9Y2T3	GUAD_HUMAN		Lung(182;0.0583)	13	1555	+		Myeloproliferative disorder(762;0.0122)	449					B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Missense_Mutation	SNP	ENST00000358399.3	37	c.1346C>T	CCDS6641.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.777760	0.90195	.	.	ENSG00000119125	ENST00000545168;ENST00000238018;ENST00000376989;ENST00000376986;ENST00000358399;ENST00000436438	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.65575	0.2704	L	0.53249	1.67	0.80722	D	1	D;D;D	0.69078	0.979;0.997;0.996	B;P;P	0.54312	0.406;0.748;0.565	T	0.61342	-0.7082	9	0.32370	T	0.25	-15.3957	17.0254	0.86444	0.0:1.0:0.0:0.0	.	371;449;449	Q5SZC6;Q9Y2T3-3;Q9Y2T3	.;.;GUAD_HUMAN	L	375;449;388;371;449;157	.	ENSP00000238018:P449L	P	+	2	0	GDA	74053059	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.043000	0.71004	2.756000	0.94617	0.563000	0.77884	CCG		0.443	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052633.1		
OR13C3	138803	broad.mit.edu	37	9	107298585	107298585	+	Silent	SNP	C	C	T	rs200973865		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr9:107298585C>T	ENST00000374781.2	-	1	552	c.510G>A	c.(508-510)gcG>gcA	p.A170A		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TCAATACATACGCCACCTTGC	0.468																																					GBM(86;1248 1274 14222 15028 46219)	uc004bcb.1																			0				endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						c.(508-510)gcG>gcA		Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA.							184.0	172.0	176.0					9																	107298585		2203	4300	6503	SO:0001819	synonymous_variant	138803				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107298585C>T		CCDS35089.1	9q31.1	2013-09-24			ENSG00000204246	ENSG00000204246		"""GPCR / Class A : Olfactory receptors"""	14704	protein-coding gene	gene with protein product							Standard	NM_001001961		Approved		uc004bcb.1	Q8NGS6	OTTHUMG00000020406	ENST00000374781.2:c.510G>A	9.37:g.107298585C>T							p.A170A	NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN			0	510	-			170					Q5VVG1|Q6IF52	Silent	SNP	ENST00000374781.2	37	c.510G>A	CCDS35089.1																																																																																				0.468	OR13C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053477.2		
FIGF	2277	broad.mit.edu	37	X	15364311	15364311	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:15364311G>A	ENST00000297904.3	-	7	1438	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	FIGF_ENST00000488351.1_5'UTR	NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN	c-fos induced growth factor (vascular endothelial growth factor D)	337					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|induction of positive chemotaxis (GO:0050930)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell chemotaxis (GO:0060754)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor binding (GO:0005172)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					TTTGGAAAGCGGCAATGCTTT	0.478																																						uc004cwt.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						c.(1009-1011)Cgc>Tgc		Homo sapiens c-fos induced growth factor (vascular endothelial growth factor D) (FIGF), mRNA.							105.0	93.0	97.0					X																	15364311		2203	4300	6503	SO:0001583	missense	2277				angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding	g.chrX:15364311G>A	AJ000185	CCDS14166.1	Xp22.31	2008-02-05			ENSG00000165197	ENSG00000165197			3708	protein-coding gene	gene with protein product		300091		VEGFD		9479493	Standard	NM_004469		Approved	VEGF-D	uc004cwt.2	O43915	OTTHUMG00000021175	ENST00000297904.3:c.1009C>T	X.37:g.15364311G>A	ENSP00000297904:p.Arg337Cys					FIGF_uc022bth.1_Non-coding_Transcript	p.R337C	NM_004469	NP_004460	O43915	VEGFD_HUMAN			6	1476	-	Hepatocellular(33;0.183)		337					B2R7Z3	Missense_Mutation	SNP	ENST00000297904.3	37	c.1009C>T	CCDS14166.1	.	.	.	.	.	.	.	.	.	.	G	8.437	0.849960	0.17034	.	.	ENSG00000165197	ENST00000297904	.	.	.	5.65	2.87	0.33458	.	0.291863	0.30252	N	0.010043	T	0.41949	0.1181	L	0.27053	0.805	0.42745	D	0.993753	B	0.17465	0.022	B	0.12156	0.007	T	0.25152	-1.0140	9	0.87932	D	0	-12.615	8.5586	0.33496	0.1287:0.127:0.7443:0.0	.	337	O43915	VEGFD_HUMAN	C	337	.	ENSP00000297904:R337C	R	-	1	0	FIGF	15274232	0.998000	0.40836	0.746000	0.31095	0.040000	0.13550	1.423000	0.34837	0.236000	0.21180	-0.229000	0.12294	CGC		0.478	FIGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055859.1	NM_004469	
PTCHD1	139411	broad.mit.edu	37	X	23397772	23397772	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:23397772T>C	ENST00000379361.4	+	2	1276	c.416T>C	c.(415-417)aTa>aCa	p.I139T		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	139					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TTTGCCCATATATGTATCCTG	0.433																																						uc004dal.4																			0				NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						c.(415-417)aTa>aCa		Homo sapiens patched domain containing 1 (PTCHD1), mRNA.							82.0	75.0	77.0					X																	23397772		2203	4300	6503	SO:0001583	missense	139411				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	g.chrX:23397772T>C	AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.416T>C	X.37:g.23397772T>C	ENSP00000368666:p.Ile139Thr					PTCHD1_uc010nfu.2_Missense_Mutation_p.I139T	p.I139T	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN			1	424	+			139					B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	37	c.416T>C	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	T	15.64	2.893923	0.52121	.	.	ENSG00000165186	ENST00000379361	D	0.85411	-1.98	5.06	5.06	0.68205	.	0.055638	0.64402	D	0.000001	D	0.83764	0.5325	N	0.19112	0.55	0.42909	D	0.994253	D;B	0.62365	0.991;0.013	P;B	0.56434	0.798;0.063	D	0.86482	0.1792	10	0.66056	D	0.02	.	14.1349	0.65281	0.0:0.0:0.0:1.0	.	34;139	Q96NR3-3;Q96NR3	.;PTHD1_HUMAN	T	139	ENSP00000368666:I139T	ENSP00000368666:I139T	I	+	2	0	PTCHD1	23307693	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.450000	0.80656	1.983000	0.57843	0.486000	0.48141	ATA		0.433	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495	
CYBB	1536	broad.mit.edu	37	X	37665738	37665738	+	Silent	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:37665738C>T	ENST00000378588.4	+	11	1480	c.1413C>T	c.(1411-1413)gcC>gcT	p.A471A	CYBB_ENST00000545017.1_Silent_p.A439A|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000536160.1_Silent_p.A204A	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	471					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	GGAACAATGCCGGCTTCCTCA	0.527																																						uc004ddr.2																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						c.(1411-1413)gcC>gcT		Homo sapiens cytochrome b-245, beta polypeptide (CYBB), mRNA.							112.0	87.0	96.0					X																	37665738		2202	4300	6502	SO:0001819	synonymous_variant	1536				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity	g.chrX:37665738C>T	X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"""Cytochrome b genes"""	2578	protein-coding gene	gene with protein product		300481	"""chronic granulomatous disease"""	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.1413C>T	X.37:g.37665738C>T						CYBB_uc011mkf.1_Silent_p.A439A|CYBB_uc011mkg.1_Silent_p.A204A	p.A471A	NM_000397	NP_000388	P04839	CY24B_HUMAN			10	1474	+			471					A8K138|Q2PP16	Silent	SNP	ENST00000378588.4	37	c.1413C>T	CCDS14242.1																																																																																				0.527	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080881.1		
PAGE1	8712	broad.mit.edu	37	X	49455937	49455937	+	Silent	SNP	T	T	C			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:49455937T>C	ENST00000376150.3	-	4	339	c.207A>G	c.(205-207)ccA>ccG	p.P69P		NM_003785.3	NP_003776.2	O75459	PAGE1_HUMAN	P antigen family, member 1 (prostate associated)	69					cellular defense response (GO:0006968)					endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7	Ovarian(276;0.236)					ACCCAGTCTTTGGCTGAACCA	0.438																																						uc004dom.3																			0				endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7						c.(205-207)ccA>ccG		Homo sapiens P antigen family, member 1 (prostate associated) (PAGE1), mRNA.							113.0	90.0	98.0					X																	49455937		2203	4300	6503	SO:0001819	synonymous_variant	8712				cellular defense response			g.chrX:49455937T>C	AF058989	CCDS14327.1	Xp11.23	2009-06-17	2005-01-26	2005-01-27	ENSG00000068985	ENSG00000068985			4107	protein-coding gene	gene with protein product		300288	"""G antigen, family B, 1 (prostate associated)"""	GAGEB1		9651357, 9724777	Standard	NM_003785		Approved	PAGE-1, GAGE-9, CT16.3	uc004dom.3	O75459	OTTHUMG00000033224	ENST00000376150.3:c.207A>G	X.37:g.49455937T>C							p.P69P	NM_003785	NP_003776	O75459	GAGB1_HUMAN			3	340	-	Ovarian(276;0.236)		69					Q6FGM3|Q9BSS7	Silent	SNP	ENST00000376150.3	37	c.207A>G	CCDS14327.1																																																																																				0.438	PAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081210.1		
FOXR2	139628	broad.mit.edu	37	X	55650496	55650496	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:55650496G>A	ENST00000339140.3	+	1	664	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	118					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						ACAAAAAGACGAAGGGTCTAA	0.527																																						uc004duo.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(352-354)Gaa>Aaa		Homo sapiens forkhead box R2 (FOXR2), mRNA.							65.0	60.0	62.0					X																	55650496		2203	4300	6503	SO:0001583	missense	139628				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chrX:55650496G>A	BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299		"""Forkhead boxes"""	30469	protein-coding gene	gene with protein product						15202009, 15202027	Standard	NM_198451		Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.352G>A	X.37:g.55650496G>A	ENSP00000427329:p.Glu118Lys						p.E118K	NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN			0	664	+			118						Missense_Mutation	SNP	ENST00000339140.3	37	c.352G>A	CCDS35308.1	.	.	.	.	.	.	.	.	.	.	G	9.002	0.980300	0.18812	.	.	ENSG00000189299	ENST00000339140	D	0.94232	-3.38	3.1	0.623	0.17654	.	1.538560	0.04286	N	0.344718	D	0.86230	0.5883	L	0.37850	1.14	0.09310	N	1	P	0.44986	0.847	B	0.30105	0.111	T	0.77789	-0.2456	10	0.44086	T	0.13	.	5.1075	0.14793	0.3892:0.0:0.6108:0.0	.	118	Q6PJQ5	FOXR2_HUMAN	K	118	ENSP00000427329:E118K	ENSP00000427329:E118K	E	+	1	0	FOXR2	55667221	0.272000	0.24172	0.000000	0.03702	0.007000	0.05969	0.556000	0.23438	0.035000	0.15519	0.600000	0.82982	GAA		0.527	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056877.2	NM_198451	
SLC7A3	84889	broad.mit.edu	37	X	70148360	70148360	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:70148360T>C	ENST00000374299.3	-	4	797	c.653A>G	c.(652-654)aAg>aGg	p.K218R	SLC7A3_ENST00000298085.4_Missense_Mutation_p.K218R			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	218					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TTCTGTGAGCTTCCAGTTGTG	0.507																																						uc004dyn.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31						c.(652-654)aAg>aGg		Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 (SLC7A3), transcript variant 1, mRNA.	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						75.0	52.0	60.0					X																	70148360		2203	4299	6502	SO:0001583	missense	84889				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane		g.chrX:70148360T>C	AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"""Solute carriers"""	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.653A>G	X.37:g.70148360T>C	ENSP00000363417:p.Lys218Arg					SLC7A3_uc004dyo.3_Missense_Mutation_p.K218R	p.K218R	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN			3	827	-	Renal(35;0.156)		218					D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Missense_Mutation	SNP	ENST00000374299.3	37	c.653A>G	CCDS14404.1	.	.	.	.	.	.	.	.	.	.	T	13.50	2.254510	0.39896	.	.	ENSG00000165349	ENST00000374299;ENST00000298085	D;D	0.89810	-2.57;-2.57	4.95	-2.25	0.06888	Amino acid permease domain (1);	0.624877	0.18233	N	0.147508	T	0.80460	0.4627	L	0.52823	1.66	0.23421	N	0.997715	B	0.06786	0.001	B	0.12837	0.008	T	0.65327	-0.6195	10	0.42905	T	0.14	.	1.0724	0.01624	0.1338:0.2403:0.2712:0.3547	.	218	Q8WY07	CTR3_HUMAN	R	218	ENSP00000363417:K218R;ENSP00000298085:K218R	ENSP00000298085:K218R	K	-	2	0	SLC7A3	70065085	0.984000	0.35163	0.917000	0.36280	0.969000	0.65631	0.892000	0.28322	-0.732000	0.04856	0.356000	0.21956	AAG		0.507	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1	NM_032803	
ZCCHC5	203430	broad.mit.edu	37	X	77912605	77912605	+	Missense_Mutation	SNP	C	C	T	rs369311059		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:77912605C>T	ENST00000321110.1	-	2	1608	c.1313G>A	c.(1312-1314)cGt>cAt	p.R438H		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	438							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TTTGTGCCAACGGACCCATTC	0.547																																						uc022bzi.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						c.(1312-1314)cGt>cAt		Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA.		C	HIS/ARG	2,3833		0,2,1630,571	136.0	103.0	114.0		1313	-2.2	0.0	X		114	0,6728		0,0,2428,1872	no	missense	ZCCHC5	NM_152694.2	29	0,2,4058,2443	TT,TC,CC,C		0.0,0.0522,0.0189	benign	438/476	77912605	2,10561	2203	4300	6503	SO:0001583	missense	203430						nucleic acid binding|zinc ion binding	g.chrX:77912605C>T	AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"""Zinc fingers, CCHC domain containing"""	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.1313G>A	X.37:g.77912605C>T	ENSP00000316794:p.Arg438His					ZCCHC5_uc004edc.1_Missense_Mutation_p.R438H	p.R438H	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN			0	1313	-			438					B2RMZ0|Q5JQE9	Missense_Mutation	SNP	ENST00000321110.1	37	c.1313G>A	CCDS14440.1	.	.	.	.	.	.	.	.	.	.	C	0.038	-1.298223	0.01364	5.22E-4	0.0	ENSG00000179300	ENST00000321110	T	0.25749	1.78	3.2	-2.2	0.06994	.	.	.	.	.	T	0.16385	0.0394	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21109	-1.0255	9	0.44086	T	0.13	.	8.1248	0.30992	0.0:0.4658:0.0:0.5342	.	438	Q8N8U3	ZCHC5_HUMAN	H	438	ENSP00000316794:R438H	ENSP00000316794:R438H	R	-	2	0	ZCCHC5	77799261	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.973000	0.03798	-0.802000	0.04421	-1.585000	0.00851	CGT		0.547	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694	
RNF113A	7737	broad.mit.edu	37	X	119005259	119005259	+	Silent	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:119005259C>T	ENST00000371442.2	-	1	532	c.318G>A	c.(316-318)gcG>gcA	p.A106A	NDUFA1_ENST00000371437.4_5'Flank	NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	106							zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						CCACGGGTTTCGCCGAACGGG	0.552																																						uc004esb.3																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						c.(316-318)gcG>gcA		Homo sapiens ring finger protein 113A (RNF113A), mRNA.							170.0	171.0	171.0					X																	119005259		2203	4300	6503	SO:0001819	synonymous_variant	7737						nucleic acid binding|zinc ion binding	g.chrX:119005259C>T	X98253	CCDS14589.1	Xq24	2013-10-22	2005-03-22	2005-03-22	ENSG00000125352	ENSG00000125352		"""RING-type (C3HC4) zinc fingers"""	12974	protein-coding gene	gene with protein product			"""zinc finger protein 183 (RING finger, C3HC4 type)"""	ZNF183		9224902	Standard	NM_006978		Approved	RNF113, Cwc24	uc004esb.3	O15541	OTTHUMG00000022283	ENST00000371442.2:c.318G>A	X.37:g.119005259C>T						NDUFA1_uc004esc.4_5'Flank	p.A106A	NM_006978	NP_008909	O15541	R113A_HUMAN			0	533	-			106					B2RBR7	Silent	SNP	ENST00000371442.2	37	c.318G>A	CCDS14589.1																																																																																				0.552	RNF113A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058071.1	NM_006978	
ENOX2	10495	broad.mit.edu	37	X	129759313	129759313	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:129759313C>A	ENST00000370927.1	-	13	1829	c.1808G>T	c.(1807-1809)gGc>gTc	p.G603V	ENOX2_ENST00000370935.1_Missense_Mutation_p.G574V|ENOX2_ENST00000394363.1_Missense_Mutation_p.G574V|ENOX2_ENST00000338144.3_Missense_Mutation_p.G603V			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	603					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						GCCCTCGAAGCCACAGAATTT	0.438																																					Ovarian(101;828 1506 2951 9500 35258)	uc004evw.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						c.(1807-1809)gGc>gTc		Homo sapiens ecto-NOX disulfide-thiol exchanger 2 (ENOX2), transcript variant 2, mRNA.							123.0	98.0	106.0					X																	129759313		2203	4300	6503	SO:0001583	missense	10495				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	g.chrX:129759313C>A	AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"""RNA binding motif (RRM) containing"""	2259	protein-coding gene	gene with protein product		300282	"""cytosolic ovarian carcinoma antigen 1"""	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.1808G>T	X.37:g.129759313C>A	ENSP00000359965:p.Gly603Val					ENOX2_uc004evx.3_Missense_Mutation_p.G574V|ENOX2_uc004evy.3_Missense_Mutation_p.G574V|ENOX2_uc004evv.3_Missense_Mutation_p.G428V	p.G603V	NM_182314	NP_006366	Q16206	ENOX2_HUMAN			15	2226	-			603					A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	ENST00000370927.1	37	c.1808G>T	CCDS14626.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.008072	0.75046	.	.	ENSG00000165675	ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927	.	.	.	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.70509	0.3232	M	0.65498	2.005	0.80722	D	1	D;D	0.69078	0.982;0.997	P;D	0.63283	0.856;0.913	T	0.73855	-0.3851	9	0.87932	D	0	-10.5608	12.5197	0.56052	0.0:1.0:0.0:0.0	.	603;631	Q16206;A4QPE1	ENOX2_HUMAN;.	V	574;603;574;631;603	.	ENSP00000337146:G603V	G	-	2	0	ENOX2	129586994	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.779000	0.75057	2.447000	0.82792	0.538000	0.68166	GGC		0.438	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314	
SLITRK2	84631	broad.mit.edu	37	X	144904765	144904765	+	Silent	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:144904765G>A	ENST00000370490.1	+	1	5077	c.822G>A	c.(820-822)agG>agA	p.R274R	SLITRK2_ENST00000447897.2_Silent_p.R274R|SLITRK2_ENST00000413937.2_Silent_p.R274R|SLITRK2_ENST00000428560.2_Silent_p.R274R|SLITRK2_ENST00000434188.2_Silent_p.R274R			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	274					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGTCAGAGGGGCAGCCATG	0.557																																						uc022cfn.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86						c.(820-822)agG>agA		Homo sapiens SLIT and NTRK-like family, member 2 (SLITRK2), transcript variant 1, mRNA.							84.0	78.0	80.0					X																	144904765		2202	4300	6502	SO:0001819	synonymous_variant	84631					integral to membrane		g.chrX:144904765G>A	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.822G>A	X.37:g.144904765G>A						SLITRK2_uc004fcd.3_Silent_p.R274R|SLITRK2_uc010nsp.3_Silent_p.R274R|SLITRK2_uc010nso.3_Silent_p.R274R|SLITRK2_uc011mwq.2_Silent_p.R274R|SLITRK2_uc011mwr.2_Silent_p.R274R|SLITRK2_uc011mws.2_Silent_p.R274R|SLITRK2_uc004fcg.3_Silent_p.R274R|SLITRK2_uc011mwt.2_Silent_p.R274R	p.R274R	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN			0	822	+	Acute lymphoblastic leukemia(192;6.56e-05)		274					A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Silent	SNP	ENST00000370490.1	37	c.822G>A	CCDS14680.1																																																																																				0.557	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539	
MTM1	4534	broad.mit.edu	37	X	149832009	149832009	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:149832009C>T	ENST00000370396.2	+	14	1625	c.1571C>T	c.(1570-1572)cCa>cTa	p.P524L	MTM1_ENST00000413012.2_Missense_Mutation_p.P487L|MTM1_ENST00000542741.1_3'UTR|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.P409L	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	524	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					GTTTTATATCCAGTTGCCAGT	0.358																																						uc004fef.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1570-1572)cCa>cTa		Homo sapiens myotubularin 1 (MTM1), mRNA.							84.0	73.0	77.0					X																	149832009		2203	4300	6503	SO:0001583	missense	4534				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chrX:149832009C>T	U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7448	protein-coding gene	gene with protein product		300415	"""myotubular myopathy 1"""				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.1571C>T	X.37:g.149832009C>T	ENSP00000359423:p.Pro524Leu					MTM1_uc011mxx.2_Non-coding_Transcript|MTM1_uc011mxy.2_Missense_Mutation_p.P487L|MTM1_uc011mxz.2_Missense_Mutation_p.P409L|MTM1_uc010nte.3_Missense_Mutation_p.P392L	p.P524L	NM_000252	NP_000243	Q13496	MTM1_HUMAN			13	1647	+	Acute lymphoblastic leukemia(192;6.56e-05)		524			Myotubularin phosphatase.		A6NDB1|B7Z491|F2Z330|Q8NEL1	Missense_Mutation	SNP	ENST00000370396.2	37	c.1571C>T	CCDS14694.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.781396	0.90282	.	.	ENSG00000171100	ENST00000370396;ENST00000543350;ENST00000413012	D;D;D	0.91351	-2.83;-2.83;-2.83	5.39	5.39	0.77823	Myotubularin phosphatase domain (1);	0.000000	0.85682	D	0.000000	D	0.97071	0.9043	H	0.95850	3.73	0.80722	D	1	P;D	0.89917	0.844;1.0	P;D	0.91635	0.566;0.999	D	0.98433	1.0583	10	0.87932	D	0	.	18.2301	0.89933	0.0:1.0:0.0:0.0	.	487;524	B7Z491;Q13496	.;MTM1_HUMAN	L	524;409;487	ENSP00000359423:P524L;ENSP00000439784:P409L;ENSP00000389157:P487L	ENSP00000359423:P524L	P	+	2	0	MTM1	149582667	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.451000	0.80668	2.242000	0.73789	0.513000	0.50165	CCA		0.358	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3	NM_000252	
HCFC1	3054	broad.mit.edu	37	X	153229664	153229664	+	Silent	SNP	G	G	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:153229664G>T	ENST00000310441.7	-	3	1380	c.414C>A	c.(412-414)ctC>ctA	p.L138L	HCFC1_ENST00000354233.3_Silent_p.L138L|HCFC1_ENST00000369984.4_Silent_p.L138L|HCFC1_ENST00000461098.1_5'Flank	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	138					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCTGTGCCCGAGTCGAGGAC	0.562																																						uc004fjp.3																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(412-414)ctC>ctA		Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.							148.0	156.0	153.0					X																	153229664		1937	4121	6058	SO:0001819	synonymous_variant	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153229664G>T		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.414C>A	X.37:g.153229664G>T							p.L138L	NM_005334	NP_005325	P51610	HCFC1_HUMAN			2	942	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		138					Q6P4G5	Silent	SNP	ENST00000310441.7	37	c.414C>A	CCDS44020.1																																																																																				0.562	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334	
