#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
NECAP2	55707	broad.mit.edu	37	1	16778338	16778338	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr1:16778338G>A	ENST00000337132.5	+	6	585	c.495G>A	c.(493-495)atG>atA	p.M165I	NECAP2_ENST00000504551.2_Missense_Mutation_p.M104I|NECAP2_ENST00000443980.2_Missense_Mutation_p.M165I|NECAP2_ENST00000457722.2_Missense_Mutation_p.M139I|NECAP2_ENST00000406746.1_Missense_Mutation_p.M165I	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2	165					endocytosis (GO:0006897)|protein transport (GO:0015031)	clathrin vesicle coat (GO:0030125)|coated pit (GO:0005905)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		TTTAGAACATGAAGAAGAAGG	0.602																																						uc001ayq.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(493-495)atG>atA		Homo sapiens NECAP endocytosis associated 2 (NECAP2), transcript variant 2, mRNA.							74.0	84.0	80.0					1																	16778338		2203	4300	6503	SO:0001583	missense	55707				endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane		g.chr1:16778338G>A	AK021938	CCDS173.1, CCDS44066.1, CCDS44067.1	1p36.13	2008-02-05			ENSG00000157191	ENSG00000157191			25528	protein-coding gene	gene with protein product		611624				14555962, 15494011	Standard	NM_001145277		Approved	FLJ10420	uc001ayq.3	Q9NVZ3	OTTHUMG00000002313	ENST00000337132.5:c.495G>A	1.37:g.16778338G>A	ENSP00000338746:p.Met165Ile					NECAP2_uc001ayo.3_Missense_Mutation_p.M165I|NECAP2_uc010ocd.2_Missense_Mutation_p.M139I	p.M165I	NM_001145277	NP_001138749	Q9NVZ3	NECP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)	5	585	+		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	165					B4DY19|E9PGQ8|Q5VSU4|Q5VSU5|Q9H7L1|Q9H8L1	Missense_Mutation	SNP	ENST00000337132.5	37	c.495G>A	CCDS173.1	.	.	.	.	.	.	.	.	.	.	G	4.059	0.008655	0.07912	.	.	ENSG00000157191	ENST00000337132;ENST00000504551;ENST00000457722;ENST00000406746;ENST00000443980;ENST00000492095	T;T;T;T;T;T	0.41758	1.6;1.59;1.59;1.6;0.99;1.6	5.68	0.433	0.16534	.	0.210161	0.64402	N	0.000020	T	0.20577	0.0495	N	0.13043	0.29	0.49299	D	0.999775	B;B;B	0.10296	0.001;0.003;0.0	B;B;B	0.11329	0.003;0.006;0.001	T	0.03576	-1.1023	10	0.33940	T	0.23	-5.3752	5.4506	0.16563	0.2944:0.0:0.5773:0.1283	.	139;165;165	Q9NVZ3-4;Q9NVZ3-2;Q9NVZ3	.;.;NECP2_HUMAN	I	165;104;139;165;165;165	ENSP00000338746:M165I;ENSP00000424509:M104I;ENSP00000407091:M139I;ENSP00000383925:M165I;ENSP00000391942:M165I;ENSP00000427620:M165I	ENSP00000338746:M165I	M	+	3	0	NECAP2	16650925	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	0.469000	0.22067	0.056000	0.16144	0.561000	0.74099	ATG		0.602	NECAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006680.2	NM_018090	
HNRNPR	10236	broad.mit.edu	37	1	23648083	23648083	+	Missense_Mutation	SNP	A	A	C			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr1:23648083A>C	ENST00000374612.1	-	7	872	c.749T>G	c.(748-750)gTt>gGt	p.V250G	HNRNPR_ENST00000606561.1_Missense_Mutation_p.V111G|HNRNPR_ENST00000426846.2_Missense_Mutation_p.V90G|HNRNPR_ENST00000302271.6_Missense_Mutation_p.V250G|HNRNPR_ENST00000374616.3_Missense_Mutation_p.V250G|HNRNPR_ENST00000427764.2_Missense_Mutation_p.V212G|HNRNPR_ENST00000478691.1_Missense_Mutation_p.V149G	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	250	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		AATGGATCCAACAAAAAGTCT	0.363																																						uc001bgr.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(748-750)gTt>gGt		Homo sapiens heterogeneous nuclear ribonucleoprotein R (HNRNPR), transcript variant 2, mRNA.							117.0	121.0	119.0					1																	23648083		2203	4300	6503	SO:0001583	missense	10236					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:23648083A>C	AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"""RNA binding motif (RRM) containing"""	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.749T>G	1.37:g.23648083A>C	ENSP00000363741:p.Val250Gly					HNRNPR_uc010odw.2_Missense_Mutation_p.V212G|HNRNPR_uc009vql.3_Missense_Mutation_p.V111G|HNRNPR_uc001bgp.4_Missense_Mutation_p.V250G|HNRNPR_uc001bgs.4_Missense_Mutation_p.V149G|HNRNPR_uc009vqk.3_Missense_Mutation_p.V149G|HNRNPR_uc010odx.2_Missense_Mutation_p.V90G	p.V250G	NM_005826	NP_001095867	O43390	HNRPR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)	6	908	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	250			RRM 2.		Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Missense_Mutation	SNP	ENST00000374612.1	37	c.749T>G	CCDS232.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.434211	0.83776	.	.	ENSG00000125944	ENST00000374616;ENST00000374612;ENST00000302271;ENST00000427764;ENST00000426846	T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26	4.87	4.87	0.63330	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.74114	0.3674	H	0.98388	4.22	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.998;0.999;0.999;0.998;0.995;0.996	D	0.84491	0.0611	10	0.87932	D	0	-4.0158	13.5936	0.61975	1.0:0.0:0.0:0.0	.	90;212;111;227;250;250	E7ETM7;Q2L7G6;B4DT28;Q6MZS5;O43390;O43390-2	.;.;.;.;HNRPR_HUMAN;.	G	250;250;250;212;90	ENSP00000363745:V250G;ENSP00000363741:V250G;ENSP00000304405:V250G;ENSP00000392799:V212G;ENSP00000415042:V90G	ENSP00000304405:V250G	V	-	2	0	HNRNPR	23520670	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.230000	0.95299	1.967000	0.57214	0.459000	0.35465	GTT		0.363	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008889.1	NM_005826	
PUM1	9698	broad.mit.edu	37	1	31406150	31406150	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr1:31406150C>T	ENST00000257075.5	-	22	3562	c.3469G>A	c.(3469-3471)Ggc>Agc	p.G1157S	SNORD103A_ENST00000363284.1_RNA|PUM1_ENST00000440538.2_Missense_Mutation_p.G1133S|PUM1_ENST00000373747.3_Missense_Mutation_p.G1160S|PUM1_ENST00000423018.2_Missense_Mutation_p.G1015S|PUM1_ENST00000424085.2_Missense_Mutation_p.G915S|PUM1_ENST00000373741.4_Missense_Mutation_p.G1195S|PUM1_ENST00000373742.2_Missense_Mutation_p.G1098S|PUM1_ENST00000426105.2_Missense_Mutation_p.G1159S	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	1157	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.				membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		ATGTGCTTGCCATAGGTGTAC	0.537																																						uc001bsi.1																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(3469-3471)Ggc>Agc		Homo sapiens pumilio homolog 1 (Drosophila) (PUM1), transcript variant 2, mRNA.							215.0	182.0	193.0					1																	31406150		2203	4300	6503	SO:0001583	missense	9698				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	g.chr1:31406150C>T	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.3469G>A	1.37:g.31406150C>T	ENSP00000257075:p.Gly1157Ser					PUM1_uc001bsf.1_Missense_Mutation_p.G825S|PUM1_uc001bsh.1_Missense_Mutation_p.G1159S|PUM1_uc001bsj.1_Missense_Mutation_p.G1133S|PUM1_uc010oga.1_Missense_Mutation_p.G1015S|PUM1_uc001bsk.1_Missense_Mutation_p.G1195S|PUM1_uc010ogb.1_Missense_Mutation_p.G1098S	p.G1157S	NM_014676	NP_055491	Q14671	PUM1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	21	3582	-		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	1157			PUM-HD.		A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	37	c.3469G>A	CCDS338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.5|22.5	4.293299|4.293299	0.80914|0.80914	.|.	.|.	ENSG00000134644|ENSG00000134644	ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742|ENST00000525843;ENST00000498419	T;T;T;T;T;T;T;T|.	0.18960|.	2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18|.	4.85|4.85	4.85|4.85	0.62838|0.62838	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.77075|.	0.4077|.	M|M	0.78916|0.78916	2.43|2.43	0.80722|0.80722	D|D	1|1	D;D;B;P;D;B;D;D|.	0.89917|.	0.989;0.974;0.223;0.86;1.0;0.094;1.0;1.0|.	D;D;B;P;D;B;D;D|.	0.79784|.	0.964;0.949;0.171;0.799;0.993;0.171;0.993;0.993|.	T|.	0.78033|.	-0.2362|.	10|.	0.62326|.	D|.	0.03|.	-7.6697|-7.6697	17.7502|17.7502	0.88431|0.88431	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1098;1015;1195;1133;1157;1159;1160;1159|.	B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q5T1Z4;Q53HH5|.	.;.;.;.;PUM1_HUMAN;.;.;.|.	S|X	915;1157;1160;897;1159;1133;1195;1015;1098|1095;870	ENSP00000400141:G915S;ENSP00000257075:G1157S;ENSP00000362852:G1160S;ENSP00000391723:G1159S;ENSP00000401777:G1133S;ENSP00000362846:G1195S;ENSP00000399440:G1015S;ENSP00000362847:G1098S|.	ENSP00000257075:G1157S|.	G|W	-|-	1|2	0|0	PUM1|PUM1	31178737|31178737	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	7.620000|7.620000	0.83070|0.83070	2.520000|2.520000	0.84964|0.84964	0.555000|0.555000	0.69702|0.69702	GGC|TGG		0.537	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1		
KCNQ4	9132	broad.mit.edu	37	1	41285881	41285881	+	Silent	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr1:41285881C>T	ENST00000347132.5	+	7	1072	c.990C>T	c.(988-990)caC>caT	p.H330H	KCNQ4_ENST00000509682.2_Silent_p.H330H|KCNQ4_ENST00000506017.1_3'UTR	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	330					inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	AGGAGCAGCACCGGCAGAAGC	0.617																																						uc001cgh.2																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26						c.(988-990)caC>caT		Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 4 (KCNQ4), transcript variant 1, mRNA.							45.0	36.0	39.0					1																	41285881		2203	4298	6501	SO:0001819	synonymous_variant	9132				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex		g.chr1:41285881C>T	AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.990C>T	1.37:g.41285881C>T						KCNQ4_uc001cgi.2_Silent_p.H330H	p.H330H	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		6	1072	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	330					O96025	Silent	SNP	ENST00000347132.5	37	c.990C>T	CCDS456.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.542319	0.27563	.	.	ENSG00000117013	ENST00000443478	.	.	.	5.44	-0.424	0.12321	.	.	.	.	.	T	0.55481	0.1923	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49707	-0.8911	4	.	.	.	-30.7719	9.3716	0.38256	0.0:0.4829:0.0:0.5171	.	.	.	.	S	226	.	.	P	+	1	0	KCNQ4	41058468	0.945000	0.32115	0.997000	0.53966	0.999000	0.98932	0.115000	0.15540	0.012000	0.14892	0.655000	0.94253	CCG		0.617	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000020812.1	NM_004700	
AMPD1	270	broad.mit.edu	37	1	115215817	115215817	+	Missense_Mutation	SNP	G	G	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr1:115215817G>T	ENST00000520113.2	-	16	2276	c.2261C>A	c.(2260-2262)gCc>gAc	p.A754D	AMPD1_ENST00000369538.3_Missense_Mutation_p.A750D|AMPD1_ENST00000353928.6_Missense_Mutation_p.A721D			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	754					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GCGGATTTGGGCTACATTTGT	0.398																																						uc001efe.2																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45						c.(2260-2262)gCc>gAc		Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	Adenosine monophosphate(DB00131)						93.0	87.0	89.0					1																	115215817		2203	4300	6503	SO:0001583	missense	270				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:115215817G>T	M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"""AMPD isoform M"", ""skeletal muscle AMPD"""	102770	"""adenosine monophosphate deaminase 1 (isoform M)"""			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.2261C>A	1.37:g.115215817G>T	ENSP00000430075:p.Ala754Asp					DENND2C_uc001eez.3_5'Flank|AMPD1_uc001eff.2_Missense_Mutation_p.A750D	p.A754D	NM_000036	NP_000027	P23109	AMPD1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	15	2309	-	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	721					A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	ENST00000520113.2	37	c.2261C>A	CCDS876.2	.	.	.	.	.	.	.	.	.	.	G	29.5	5.011540	0.93346	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	D;D;D	0.82255	-1.59;-1.59;-1.59	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.89410	0.6707	M	0.79123	2.44	0.80722	D	1	D;D	0.60575	0.985;0.988	P;P	0.60345	0.756;0.873	D	0.89754	0.3942	10	0.87932	D	0	-18.838	20.024	0.97514	0.0:0.0:1.0:0.0	.	750;721	Q5TF02;P23109	.;AMPD1_HUMAN	D	754;750;721	ENSP00000430075:A754D;ENSP00000358551:A750D;ENSP00000316520:A721D	ENSP00000316520:A721D	A	-	2	0	AMPD1	115017340	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.813000	0.99286	2.809000	0.96659	0.655000	0.94253	GCC		0.398	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4		
PDE4DIP	9659	broad.mit.edu	37	1	144882550	144882550	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr1:144882550G>A	ENST00000369354.3	-	24	3658	c.3469C>T	c.(3469-3471)Cct>Tct	p.P1157S	PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.P1157S|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.P1294S|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.P1294S|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1157					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGCTTCCCAGGGGAACCAACC	0.522			T	PDGFRB	MPD																																	uc021ouh.1				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(3469-3471)Cct>Tct		Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.							143.0	135.0	138.0					1																	144882550		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144882550G>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.3469C>T	1.37:g.144882550G>A	ENSP00000358360:p.Pro1157Ser					NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.P1157S|PDE4DIP_uc001elx.4_Intron|PDE4DIP_uc001elv.4_Missense_Mutation_p.P164S	p.P1157S	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	23	3771	-			1157					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.3469C>T	CCDS30824.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.31|11.31	1.600326|1.600326	0.28534|0.28534	.|.	.|.	ENSG00000178104|ENSG00000178104	ENST00000530592|ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	.|T;T;T;T	.|0.01414	.|4.92;4.92;4.93;4.92	5.99|5.99	1.89|1.89	0.25635|0.25635	.|.	.|.	.|.	.|.	.|.	T|T	0.00356|0.00356	0.0011|0.0011	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	0.999993|0.999993	.|B	.|0.24576	.|0.106	.|B	.|0.18263	.|0.021	T|T	0.39921|0.39921	-0.9590|-0.9590	5|9	.|0.10902	.|T	.|0.67	.|.	5.6773|5.6773	0.17755|0.17755	0.0735:0.3937:0.3978:0.1351|0.0735:0.3937:0.3978:0.1351	.|.	.|1157	.|Q5VU43	.|MYOME_HUMAN	L|S	51|1157;1157;1294;1294	.|ENSP00000358360:P1157S;ENSP00000358363:P1157S;ENSP00000435654:P1294S;ENSP00000358366:P1294S	.|ENSP00000358360:P1157S	P|P	-|-	2|1	0|0	PDE4DIP|PDE4DIP	143593907|143593907	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.096000|0.096000	0.18686|0.18686	-0.082000|-0.082000	0.11304|0.11304	0.098000|0.098000	0.17522|0.17522	0.655000|0.655000	0.94253|0.94253	CCC|CCT		0.522	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359	
IQGAP3	128239	broad.mit.edu	37	1	156532968	156532968	+	Silent	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr1:156532968C>T	ENST00000361170.2	-	8	766	c.756G>A	c.(754-756)ctG>ctA	p.L252L		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	252					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGGCCTGGGCCAGCATCTCTT	0.572																																						uc001fpf.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75						c.(754-756)ctG>ctA		Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.							120.0	124.0	123.0					1																	156532968		2203	4300	6503	SO:0001819	synonymous_variant	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156532968C>T	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.756G>A	1.37:g.156532968C>T						IQGAP3_uc009wsb.1_Silent_p.L209L	p.L252L	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN			7	831	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		252					Q5T3H8	Silent	SNP	ENST00000361170.2	37	c.756G>A	CCDS1144.1																																																																																				0.572	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229	
KCNT2	343450	broad.mit.edu	37	1	196227421	196227421	+	Missense_Mutation	SNP	C	C	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr1:196227421C>A	ENST00000294725.9	-	26	4029	c.3114G>T	c.(3112-3114)caG>caT	p.Q1038H	KCNT2_ENST00000367433.5_Missense_Mutation_p.Q1014H|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.Q972H|KCNT2_ENST00000609185.1_Missense_Mutation_p.Q971H			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1038					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TCAGTCGCTGCTGGGTTATTT	0.468																																						uc001gtd.1																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(3112-3114)caG>caT		Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.							109.0	106.0	107.0					1																	196227421		2203	4300	6503	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196227421C>A	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.3114G>T	1.37:g.196227421C>A	ENSP00000294725:p.Gln1038His					KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.Q971H|KCNT2_uc001gtf.1_Missense_Mutation_p.Q1014H|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc001gth.1_Missense_Mutation_p.Q542H	p.Q1038H	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			25	3174	-			1038					Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.3114G>T	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.718105	0.68844	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.22945	2.0;1.93;2.24	5.74	3.5	0.40072	.	0.000000	0.56097	D	0.000031	T	0.51092	0.1654	M	0.83012	2.62	0.80722	D	1	D;D;D;D	0.89917	1.0;0.98;0.991;0.985	D;P;D;P	0.79784	0.993;0.844;0.917;0.88	T	0.57797	-0.7749	10	0.87932	D	0	-12.429	11.2782	0.49178	0.0:0.7809:0.0:0.2191	.	1003;1014;971;1038	Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	H	1014;972;1038	ENSP00000356403:Q1014H;ENSP00000356401:Q972H;ENSP00000294725:Q1038H	ENSP00000294725:Q1038H	Q	-	3	2	KCNT2	194494044	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.089000	0.50183	1.398000	0.46701	0.643000	0.83706	CAG		0.468	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503	
BTAF1	9044	broad.mit.edu	37	10	93756207	93756207	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr10:93756207G>A	ENST00000265990.6	+	24	3699	c.3391G>A	c.(3391-3393)Ggt>Agt	p.G1131S	BTAF1_ENST00000544642.1_De_novo_Start_OutOfFrame	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1131					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TCGTTGTGTAGGTGTCATGAG	0.423																																						uc001khr.3																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59						c.(3391-3393)Ggt>Agt		Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA.							140.0	123.0	128.0					10																	93756207		2203	4300	6503	SO:0001583	missense	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93756207G>A	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.3391G>A	10.37:g.93756207G>A	ENSP00000265990:p.Gly1131Ser					BTAF1_uc001kht.1_Missense_Mutation_p.G569S	p.G1131S	NM_003972	NP_003963	O14981	BTAF1_HUMAN			23	3489	+		Colorectal(252;0.0846)	1131					B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	c.3391G>A	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063214	0.76187	.	.	ENSG00000095564	ENST00000265990	T	0.65549	-0.16	5.87	5.87	0.94306	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.59569	0.2203	L	0.39020	1.185	0.80722	D	1	P;P	0.42871	0.792;0.792	B;B	0.41466	0.358;0.358	T	0.62101	-0.6925	10	0.62326	D	0.03	-14.1685	20.5827	0.99408	0.0:0.0:1.0:0.0	.	1131;1131	Q2M1V9;O14981	.;BTAF1_HUMAN	S	1131	ENSP00000265990:G1131S	ENSP00000265990:G1131S	G	+	1	0	BTAF1	93746187	1.000000	0.71417	0.922000	0.36590	0.962000	0.63368	7.809000	0.86057	2.941000	0.99782	0.655000	0.94253	GGT		0.423	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972	
CYP2C18	1562	broad.mit.edu	37	10	96447958	96447958	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr10:96447958G>A	ENST00000285979.6	+	3	607	c.408G>A	c.(406-408)atG>atA	p.M136I	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Missense_Mutation_p.M136I	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	136					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	ATTTTGGGATGGGGAAGAGGA	0.478																																						uc001kjv.4																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43						c.(406-408)atG>atA		Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)						124.0	116.0	119.0					10																	96447958		2203	4300	6503	SO:0001583	missense	1562				exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96447958G>A	M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"""Cytochrome P450s"""	2620	protein-coding gene	gene with protein product		601131	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"""	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.408G>A	10.37:g.96447958G>A	ENSP00000285979:p.Met136Ile					CYP2C19_uc001kjw.4_Missense_Mutation_p.M136I|CYP2C19_uc009xus.1_Missense_Mutation_p.M1I|CYP2C19_uc010qny.2_5'UTR	p.M136I	NM_000772	NP_000763	P33261	CP2CJ_HUMAN		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	2	734	+		Colorectal(252;0.09)	136					B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Missense_Mutation	SNP	ENST00000285979.6	37	c.408G>A	CCDS7435.1	.	.	.	.	.	.	.	.	.	.	g	17.26	3.343398	0.61073	.	.	ENSG00000108242	ENST00000339022;ENST00000285979	T;T	0.11385	2.78;2.78	4.63	4.63	0.57726	.	0.000000	0.85682	U	0.000000	T	0.23532	0.0569	M	0.78223	2.4	0.80722	D	1	P;P	0.40794	0.566;0.729	B;P	0.46510	0.438;0.519	T	0.02326	-1.1176	10	0.66056	D	0.02	.	14.9723	0.71243	0.0:0.0:1.0:0.0	.	136;136	Q4VAT5;P33260	.;CP2CI_HUMAN	I	136	ENSP00000341293:M136I;ENSP00000285979:M136I	ENSP00000285979:M136I	M	+	3	0	CYP2C18	96437948	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	8.615000	0.90920	2.105000	0.64084	0.306000	0.20318	ATG		0.478	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	NM_000772	
TDRD1	56165	broad.mit.edu	37	10	115947725	115947725	+	Silent	SNP	A	A	G			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr10:115947725A>G	ENST00000369280.1	+	2	595	c.135A>G	c.(133-135)ggA>ggG	p.G45G	TDRD1_ENST00000369282.1_Silent_p.G45G|TDRD1_ENST00000369281.2_Silent_p.G45G|TDRD1_ENST00000422662.1_5'UTR|TDRD1_ENST00000251864.2_Silent_p.G45G			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	45					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GAAGTCCTGGAACACTTCCTA	0.358																																						uc001lbg.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48						c.(133-135)ggA>ggG		Homo sapiens tudor domain containing 1 (TDRD1), mRNA.							108.0	112.0	111.0					10																	115947725		2203	4300	6503	SO:0001819	synonymous_variant	56165				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	g.chr10:115947725A>G	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.135A>G	10.37:g.115947725A>G						TDRD1_uc001lbf.3_Silent_p.G36G|TDRD1_uc001lbh.1_Silent_p.G36G|TDRD1_uc001lbi.1_Silent_p.G36G	p.G45G	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	1	288	+		Colorectal(252;0.172)|Breast(234;0.188)	45					A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Silent	SNP	ENST00000369280.1	37	c.135A>G																																																																																					0.358	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2		
KRTAP5-3	387266	broad.mit.edu	37	11	1629152	1629152	+	Missense_Mutation	SNP	C	C	G	rs548851553		TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr11:1629152C>G	ENST00000399685.1	-	1	541	c.464G>C	c.(463-465)tGc>tCc	p.C155S		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	155	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		GGACTGGGAGCAGCTGGGCTT	0.627													c|||	1	0.000199681	0.0	0.0	5008	,	,		16593	0.0		0.0	False		,,,				2504	0.001					uc001ltw.1																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8						c.(463-465)tGc>tCc		Homo sapiens keratin associated protein 5-3 (KRTAP5-3), mRNA.							130.0	142.0	138.0					11																	1629152		2202	4299	6501	SO:0001583	missense	387266					keratin filament		g.chr11:1629152C>G	AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"""Keratin associated proteins"""	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.464G>C	11.37:g.1629152C>G	ENSP00000382592:p.Cys155Ser					MOB2_uc001ltq.2_Intron	p.C155S	NM_001012708	NP_001012726	Q6L8H2	KRA53_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	0	542	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	155			11 X 4 AA repeats of C-C-X-P.		Q6PL44|Q701N3	Missense_Mutation	SNP	ENST00000399685.1	37	c.464G>C	CCDS41591.1	.	.	.	.	.	.	.	.	.	.	C	9.976	1.226901	0.22542	.	.	ENSG00000196224	ENST00000399685	T	0.01527	4.8	3.33	3.33	0.38152	.	.	.	.	.	T	0.09598	0.0236	M	0.83012	2.62	0.33018	D	0.528479	D	0.65815	0.995	D	0.63793	0.918	T	0.04976	-1.0914	9	0.62326	D	0.03	.	12.975	0.58532	0.0:1.0:0.0:0.0	.	155	Q6L8H2	KRA53_HUMAN	S	155	ENSP00000382592:C155S	ENSP00000382592:C155S	C	-	2	0	KRTAP5-3	1585728	.	.	0.662000	0.29724	0.024000	0.10985	.	.	1.809000	0.52856	0.281000	0.19383	TGC		0.627	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1		
KRTAP5-3	387266	broad.mit.edu	37	11	1629156	1629156	+	Missense_Mutation	SNP	T	T	A	rs75371407		TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr11:1629156T>A	ENST00000399685.1	-	1	537	c.460A>T	c.(460-462)Agc>Tgc	p.S154C		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	154	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		TGGGAGCAGCTGGGCTTGCAG	0.627																																						uc001ltw.1																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8						c.(460-462)Agc>Tgc		Homo sapiens keratin associated protein 5-3 (KRTAP5-3), mRNA.							127.0	139.0	135.0					11																	1629156		2202	4299	6501	SO:0001583	missense	387266					keratin filament		g.chr11:1629156T>A	AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"""Keratin associated proteins"""	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.460A>T	11.37:g.1629156T>A	ENSP00000382592:p.Ser154Cys					MOB2_uc001ltq.2_Intron	p.S154C	NM_001012708	NP_001012726	Q6L8H2	KRA53_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	0	538	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	154			11 X 4 AA repeats of C-C-X-P.		Q6PL44|Q701N3	Missense_Mutation	SNP	ENST00000399685.1	37	c.460A>T	CCDS41591.1	.	.	.	.	.	.	.	.	.	.	T	2.139	-0.397181	0.04899	.	.	ENSG00000196224	ENST00000399685	T	0.01084	5.36	3.75	-3.61	0.04556	.	.	.	.	.	T	0.00468	0.0015	N	0.00742	-1.23	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.46331	-0.9199	9	0.51188	T	0.08	.	5.3378	0.15967	0.4233:0.1302:0.0:0.4465	.	154	Q6L8H2	KRA53_HUMAN	C	154	ENSP00000382592:S154C	ENSP00000382592:S154C	S	-	1	0	KRTAP5-3	1585732	.	.	0.594000	0.28785	0.041000	0.13682	.	.	-0.339000	0.08401	-1.270000	0.01421	AGC		0.627	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1		
OR51G1	79324	broad.mit.edu	37	11	4945317	4945317	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr11:4945317C>T	ENST00000321961.2	-	1	320	c.253G>A	c.(253-255)Ggc>Agc	p.G85S	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGAAAATGCCCAGCACAGTG	0.483																																						uc010qyr.2																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25						c.(253-255)Ggc>Agc		Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.							87.0	80.0	82.0					11																	4945317		2201	4298	6499	SO:0001583	missense	79324				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4945317C>T	AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"""GPCR / Class A : Olfactory receptors"""	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.253G>A	11.37:g.4945317C>T	ENSP00000322546:p.Gly85Ser						p.G85S	NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	253	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	85					B9EGW8|Q6IFH6	Missense_Mutation	SNP	ENST00000321961.2	37	c.253G>A	CCDS31366.1	.	.	.	.	.	.	.	.	.	.	C	8.131	0.783190	0.16189	.	.	ENSG00000176879	ENST00000321961	T	0.00330	8.08	4.2	3.26	0.37387	GPCR, rhodopsin-like superfamily (1);	0.404278	0.18219	U	0.147951	T	0.00178	0.0005	N	0.25060	0.705	0.22156	N	0.999327	B	0.29590	0.25	B	0.25506	0.061	T	0.41466	-0.9507	10	0.39692	T	0.17	.	6.878	0.24156	0.0:0.8018:0.0:0.1982	.	85	Q8NGK1	O51G1_HUMAN	S	85	ENSP00000322546:G85S	ENSP00000322546:G85S	G	-	1	0	OR51G1	4901893	0.000000	0.05858	0.994000	0.49952	0.381000	0.30169	-0.443000	0.06862	2.169000	0.68431	0.557000	0.71058	GGC		0.483	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142345.1	NM_001005237	
OR10A6	390093	broad.mit.edu	37	11	7949483	7949483	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr11:7949483C>T	ENST00000309838.2	-	1	726	c.727G>A	c.(727-729)Gct>Act	p.A243T		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GTGAGGTGAGCGGCACAGGTG	0.453																																						uc010rbh.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22						c.(727-729)Gct>Act		Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA.							128.0	115.0	119.0					11																	7949483		2201	4296	6497	SO:0001583	missense	390093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7949483C>T	AB065515	CCDS31420.1	11p15.4	2012-08-09			ENSG00000175393	ENSG00000175393		"""GPCR / Class A : Olfactory receptors"""	15132	protein-coding gene	gene with protein product							Standard	NM_001004461		Approved		uc010rbh.2	Q8NH74	OTTHUMG00000165671	ENST00000309838.2:c.727G>A	11.37:g.7949483C>T	ENSP00000312470:p.Ala243Thr						p.A243T	NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	0	727	-			243					Q6IF59	Missense_Mutation	SNP	ENST00000309838.2	37	c.727G>A	CCDS31420.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.091944	0.36952	.	.	ENSG00000175393	ENST00000309838	T	0.37235	1.21	4.42	3.28	0.37604	GPCR, rhodopsin-like superfamily (1);	0.161551	0.28927	N	0.013686	T	0.32556	0.0833	L	0.53671	1.685	0.23320	N	0.997916	B	0.16603	0.018	B	0.15484	0.013	T	0.32107	-0.9919	10	0.72032	D	0.01	.	9.7112	0.40247	0.8247:0.1753:0.0:0.0	.	243	Q8NH74	O10A6_HUMAN	T	243	ENSP00000312470:A243T	ENSP00000312470:A243T	A	-	1	0	OR10A6	7906059	0.937000	0.31787	1.000000	0.80357	0.974000	0.67602	2.024000	0.41049	0.833000	0.34828	-0.272000	0.10252	GCT		0.453	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385703.1	NM_001004461	
KCNA4	3739	broad.mit.edu	37	11	30033870	30033870	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr11:30033870C>T	ENST00000328224.6	-	2	1589	c.356G>A	c.(355-357)aGg>aAg	p.R119K	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	119					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	ACTCAGCTCCCTCAGGATCTT	0.542																																						uc021qfi.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(355-357)aGg>aAg		Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.							27.0	28.0	28.0					11																	30033870		2155	4272	6427	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033870C>T	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.356G>A	11.37:g.30033870C>T	ENSP00000328511:p.Arg119Lys					KCNA4_uc001msk.3_Missense_Mutation_p.R119K	p.R119K	NM_002233	NP_002224	P22459	KCNA4_HUMAN			0	356	-			119						Missense_Mutation	SNP	ENST00000328224.6	37	c.356G>A	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	8.580	0.881991	0.17467	.	.	ENSG00000182255	ENST00000328224	D	0.96265	-3.96	4.73	1.82	0.25136	.	2.266170	0.03057	U	0.155393	D	0.90177	0.6930	N	0.12182	0.205	0.21064	N	0.999792	B	0.02656	0.0	B	0.01281	0.0	T	0.82277	-0.0537	10	0.11794	T	0.64	.	6.052	0.19790	0.0:0.6793:0.0:0.3207	.	119	P22459	KCNA4_HUMAN	K	119	ENSP00000328511:R119K	ENSP00000328511:R119K	R	-	2	0	KCNA4	29990446	1.000000	0.71417	0.011000	0.14972	0.991000	0.79684	1.782000	0.38654	0.430000	0.26230	0.561000	0.74099	AGG		0.542	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233	
EHBP1L1	254102	broad.mit.edu	37	11	65349460	65349460	+	Frame_Shift_Del	DEL	A	A	-			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr11:65349460delA	ENST00000309295.4	+	9	1582	c.1317delA	c.(1315-1317)ggafs	p.G439fs		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	439						membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ACACTAAGGGACCAGAGGCGA	0.597																																						uc001oeo.4																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(1315-1317)ggafs		Homo sapiens EH domain binding protein 1-like 1 (EHBP1L1), mRNA.							75.0	85.0	82.0					11																	65349460		2130	4239	6369	SO:0001589	frameshift_variant	254102							g.chr11:65349460delA	AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.1317delA	11.37:g.65349460delA	ENSP00000312671:p.Gly439fs						p.G439fs	NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN			8	1582	+			439					Q8TB89|Q9H7M7	Frame_Shift_Del	DEL	ENST00000309295.4	37	c.1317delA	CCDS44649.1																																																																																				0.597	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658	
TENM4	26011	broad.mit.edu	37	11	78380300	78380300	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr11:78380300C>T	ENST00000278550.7	-	32	7552	c.7090G>A	c.(7090-7092)Ggg>Agg	p.G2364R		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2364					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										AGAGGGGTCCCGATGTTGTCA	0.483																																						uc001ozl.4																			0		p.G2364V(1)		breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(7090-7092)Ggg>Agg		Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.							109.0	111.0	111.0					11																	78380300		2015	4180	6195	SO:0001583	missense	26011				signal transduction	integral to membrane		g.chr11:78380300C>T	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.7090G>A	11.37:g.78380300C>T	ENSP00000278550:p.Gly2364Arg					ODZ4_uc001ozk.4_Missense_Mutation_p.G589R	p.G2364R	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN			31	7553	-			2364					A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.7090G>A	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112507	0.77210	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.96365	-3.99;-0.85	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.98720	0.9570	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99544	1.0964	9	.	.	.	.	18.8078	0.92045	0.0:1.0:0.0:0.0	.	2364	Q6N022	TEN4_HUMAN	R	2364;828	ENSP00000278550:G2364R;ENSP00000431711:G828R	.	G	-	1	0	ODZ4	78057948	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.651000	0.83577	2.677000	0.91161	0.655000	0.94253	GGG		0.483	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2		
TMEM135	65084	broad.mit.edu	37	11	86778833	86778833	+	Missense_Mutation	SNP	C	C	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr11:86778833C>A	ENST00000305494.5	+	2	278	c.239C>A	c.(238-240)gCc>gAc	p.A80D	TMEM135_ENST00000535167.1_5'UTR|TMEM135_ENST00000355734.4_Missense_Mutation_p.A80D|TMEM135_ENST00000340353.7_Missense_Mutation_p.A80D|TMEM135_ENST00000532959.1_Intron	NM_022918.3	NP_075069.3	Q86UB9	TM135_HUMAN	transmembrane protein 135	80					peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|peroxisome (GO:0005777)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GCTAATGGGGCCTTGTATATG	0.358																																						uc001pch.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(238-240)gCc>gAc		Homo sapiens transmembrane protein 135 (TMEM135), transcript variant 1, mRNA.							124.0	119.0	121.0					11																	86778833		2201	4299	6500	SO:0001583	missense	65084					integral to membrane		g.chr11:86778833C>A	BX648678	CCDS8280.1, CCDS53692.1	11q14.2	2006-03-09			ENSG00000166575	ENSG00000166575			26167	protein-coding gene	gene with protein product						12477932	Standard	NM_022918		Approved	FLJ22104	uc001pch.3	Q86UB9	OTTHUMG00000167248	ENST00000305494.5:c.239C>A	11.37:g.86778833C>A	ENSP00000306344:p.Ala80Asp					TMEM135_uc010rtt.2_5'UTR|TMEM135_uc001pci.3_Missense_Mutation_p.A80D|TMEM135_uc001pcg.2_Missense_Mutation_p.A80D	p.A80D	NM_022918	NP_075069	Q86UB9	TM135_HUMAN			1	441	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	80					Q6AW91|Q8ND01|Q9H6M3	Missense_Mutation	SNP	ENST00000305494.5	37	c.239C>A	CCDS8280.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.901204	0.52227	.	.	ENSG00000166575	ENST00000340353;ENST00000526733;ENST00000525018;ENST00000355734;ENST00000305494	T;T;T	0.49720	0.82;0.88;0.77	5.36	4.45	0.53987	.	0.187034	0.46758	D	0.000265	T	0.32376	0.0827	N	0.19112	0.55	0.80722	D	1	B;B;P	0.43094	0.302;0.302;0.799	B;B;B	0.42522	0.086;0.124;0.39	T	0.05370	-1.0889	9	.	.	.	-13.0554	8.785	0.34814	0.0:0.7699:0.1507:0.0795	.	80;80;80	Q86UB9-2;Q86UB9;Q8N605	.;TM135_HUMAN;.	D	80	ENSP00000345513:A80D;ENSP00000433927:A80D;ENSP00000306344:A80D	.	A	+	2	0	TMEM135	86456481	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.887000	0.56197	1.277000	0.44412	0.655000	0.94253	GCC		0.358	TMEM135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393875.1	NM_022918	
MTNR1B	4544	broad.mit.edu	37	11	92715081	92715081	+	Missense_Mutation	SNP	G	G	A	rs8192553	byFrequency	TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr11:92715081G>A	ENST00000257068.2	+	2	698	c.692G>A	c.(691-693)cGc>cAc	p.R231H		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	231			R -> H (in dbSNP:rs8192553).		G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	CTTCAGGCCCGCAGGAAAGCC	0.582													G|||	8	0.00159744	0.0008	0.0014	5008	,	,		18130	0.0		0.006	False		,,,				2504	0.0					uc001pdk.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33						c.(691-693)cGc>cAc		Homo sapiens melatonin receptor 1B (MTNR1B), mRNA.	Ramelteon(DB00980)	G	HIS/ARG	8,4394	14.3+/-33.2	0,8,2193	76.0	65.0	68.0		692	0.3	0.8	11	dbSNP_117	68	57,8539	35.9+/-90.5	0,57,4241	yes	missense	MTNR1B	NM_005959.3	29	0,65,6434	AA,AG,GG		0.6631,0.1817,0.5001	probably-damaging	231/363	92715081	65,12933	2201	4298	6499	SO:0001583	missense	4544				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92715081G>A	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.692G>A	11.37:g.92715081G>A	ENSP00000257068:p.Arg231His						p.R231H	NM_005959	NP_005950	P49286	MTR1B_HUMAN			1	795	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	231		R -> H (in dbSNP:rs8192553).				Missense_Mutation	SNP	ENST00000257068.2	37	c.692G>A	CCDS8290.1	7	0.003205128205128205	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	5	0.006596306068601583	G	15.15	2.749427	0.49257	0.001817	0.006631	ENSG00000134640	ENST00000257068	T	0.38077	1.16	4.21	0.287	0.15714	GPCR, rhodopsin-like superfamily (1);	0.058348	0.64402	N	0.000007	T	0.35158	0.0922	M	0.93283	3.4	0.23406	N	0.997743	B	0.30211	0.273	B	0.30782	0.12	T	0.42632	-0.9440	10	0.54805	T	0.06	-14.7292	6.0734	0.19901	0.1911:0.0:0.6653:0.1436	rs8192553;rs8192553	231	P49286	MTR1B_HUMAN	H	231	ENSP00000257068:R231H	ENSP00000257068:R231H	R	+	2	0	MTNR1B	92354729	0.974000	0.33945	0.775000	0.31657	0.811000	0.45836	3.720000	0.54933	0.063000	0.16370	0.491000	0.48974	CGC		0.582	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1		
ITPR2	3709	broad.mit.edu	37	12	26835518	26835518	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr12:26835518C>T	ENST00000381340.3	-	12	1653	c.1237G>A	c.(1237-1239)Gtt>Att	p.V413I		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	413	MIR 5. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TTTAACATAACAGGCCTCTCT	0.388																																						uc001rhg.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(1237-1239)Gtt>Att		Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.							151.0	135.0	140.0					12																	26835518		1892	4110	6002	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26835518C>T	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.1237G>A	12.37:g.26835518C>T	ENSP00000370744:p.Val413Ile						p.V413I	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			11	1654	-	Colorectal(261;0.0847)		413			MIR 5.		O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.1237G>A	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.894662	0.52121	.	.	ENSG00000123104	ENST00000381340	D	0.86366	-2.11	4.64	4.64	0.57946	MIR motif (1);MIR (2);	0.000000	0.85682	D	0.000000	T	0.78666	0.4319	N	0.13198	0.31	0.80722	D	1	B	0.24576	0.106	B	0.27500	0.08	T	0.73783	-0.3874	10	0.23891	T	0.37	.	17.7145	0.88332	0.0:1.0:0.0:0.0	.	413	Q14571	ITPR2_HUMAN	I	413	ENSP00000370744:V413I	ENSP00000370744:V413I	V	-	1	0	ITPR2	26726785	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.531000	0.81973	2.392000	0.81423	0.557000	0.71058	GTT		0.388	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223	
CCNT1	904	broad.mit.edu	37	12	49086898	49086898	+	Missense_Mutation	SNP	G	G	A	rs374831967		TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr12:49086898G>A	ENST00000261900.3	-	9	2321	c.2099C>T	c.(2098-2100)tCg>tTg	p.S700L		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	700					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						GCCAGATCTCGAGGAGATTCC	0.507																																						uc001rsd.4																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						c.(2098-2100)tCg>tTg		Homo sapiens cyclin T1 (CCNT1), mRNA.		G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	85.0	77.0	79.0		2099	5.0	1.0	12		79	0,8600		0,0,4300	no	missense	CCNT1	NM_001240.2	145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	700/727	49086898	1,13005	2203	4300	6503	SO:0001583	missense	904				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding	g.chr12:49086898G>A	AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"""human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"""	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.2099C>T	12.37:g.49086898G>A	ENSP00000261900:p.Ser700Leu					CCNT1_uc009zkz.2_Missense_Mutation_p.S415L|CCNT1_uc021qxk.1_5'Flank	p.S700L	NM_001240	NP_001231	O60563	CCNT1_HUMAN			8	2422	-			700					A9XU13|E7EX76|O60581	Missense_Mutation	SNP	ENST00000261900.3	37	c.2099C>T	CCDS8766.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.680507	0.29872	2.27E-4	0.0	ENSG00000129315	ENST00000261900	T	0.20069	2.1	5.0	5.0	0.66597	.	0.293261	0.33075	N	0.005315	T	0.10465	0.0256	N	0.14661	0.345	0.34103	D	0.662051	P	0.43352	0.804	B	0.25614	0.062	T	0.20605	-1.0270	10	0.72032	D	0.01	-6.9196	14.1377	0.65297	0.0:0.0:1.0:0.0	.	700	O60563	CCNT1_HUMAN	L	700	ENSP00000261900:S700L	ENSP00000261900:S700L	S	-	2	0	CCNT1	47373165	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	5.273000	0.65564	2.492000	0.84095	0.561000	0.74099	TCG		0.507	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1	NM_001240	
ITGB7	3695	broad.mit.edu	37	12	53585372	53585372	+	Missense_Mutation	SNP	G	G	A	rs141610554	byFrequency	TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr12:53585372G>A	ENST00000267082.5	-	16	2596	c.2365C>T	c.(2365-2367)Cgc>Tgc	p.R789C	ITGB7_ENST00000422257.3_Missense_Mutation_p.R789C|ITGB7_ENST00000550743.2_Missense_Mutation_p.R641C|ITGB7_ENST00000338737.4_Missense_Mutation_p.R641C	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	789					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCTTGAAAGCGAGGATTGATG	0.507																																						uc009zmv.3																			0				NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(2365-2367)Cgc>Tgc		Homo sapiens integrin, beta 7 (ITGB7), mRNA.		G	CYS/ARG	0,4406		0,0,2203	201.0	183.0	189.0		2365	-0.1	0.0	12	dbSNP_134	189	11,8589	8.4+/-32.0	0,11,4289	yes	missense	ITGB7	NM_000889.1	180	0,11,6492	AA,AG,GG		0.1279,0.0,0.0846	probably-damaging	789/799	53585372	11,12995	2203	4300	6503	SO:0001583	missense	3695				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity	g.chr12:53585372G>A		CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"""Integrins"""	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.2365C>T	12.37:g.53585372G>A	ENSP00000267082:p.Arg789Cys					ITGB7_uc001scc.3_Missense_Mutation_p.R789C|ITGB7_uc010snz.2_Non-coding_Transcript	p.R789C	NM_000889	NP_000880	P26010	ITB7_HUMAN			14	2436	-			789					Q9UCP7|Q9UCS7	Missense_Mutation	SNP	ENST00000267082.5	37	c.2365C>T	CCDS8849.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783281	0.70222	0.0	0.001279	ENSG00000139626	ENST00000422257;ENST00000267082;ENST00000338737	D;D;D	0.88586	-2.4;-2.4;-2.4	4.05	-0.0984	0.13628	Integrin beta subunit, cytoplasmic (2);	0.989854	0.08192	N	0.983718	D	0.87661	0.6233	L	0.56769	1.78	0.09310	N	1	D	0.61697	0.99	P	0.51266	0.664	T	0.76288	-0.3014	10	0.72032	D	0.01	.	2.3076	0.04178	0.1835:0.1508:0.5111:0.1547	.	789	P26010	ITB7_HUMAN	C	789;789;641	ENSP00000408741:R789C;ENSP00000267082:R789C;ENSP00000345501:R641C	ENSP00000267082:R789C	R	-	1	0	ITGB7	51871639	.	.	0.006000	0.13384	0.791000	0.44710	.	.	-0.009000	0.14296	-0.253000	0.11424	CGC		0.507	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405821.2		
LEMD3	23592	broad.mit.edu	37	12	65633734	65633734	+	Silent	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr12:65633734G>A	ENST00000308330.2	+	7	1973	c.1947G>A	c.(1945-1947)ctG>ctA	p.L649L		NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	649					negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of cell cycle (GO:0051726)|skeletal muscle cell differentiation (GO:0035914)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		GTGTCGTTCTGCGTTACATGA	0.294																																						uc001ssl.2																			0				breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1945-1947)ctG>ctA		Homo sapiens LEM domain containing 3 (LEMD3), transcript variant 1, mRNA.							113.0	107.0	109.0					12																	65633734		2203	4300	6503	SO:0001819	synonymous_variant	23592				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding	g.chr12:65633734G>A	AF263918	CCDS8972.1	12q14	2008-02-05			ENSG00000174106	ENSG00000174106			28887	protein-coding gene	gene with protein product		607844				10671519, 15489854	Standard	NM_014319		Approved	MAN1	uc001ssl.2	Q9Y2U8	OTTHUMG00000168840	ENST00000308330.2:c.1947G>A	12.37:g.65633734G>A						LEMD3_uc009zqo.2_Silent_p.L648L	p.L649L	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)	6	1973	+			649					Q9NT47|Q9NYA5	Silent	SNP	ENST00000308330.2	37	c.1947G>A	CCDS8972.1																																																																																				0.294	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401312.2		
CCT2	10576	broad.mit.edu	37	12	69985894	69985894	+	Silent	SNP	T	T	G			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr12:69985894T>G	ENST00000299300.6	+	8	893	c.705T>G	c.(703-705)gcT>gcG	p.A235A	CCT2_ENST00000543146.2_Silent_p.A188A|CCT2_ENST00000544368.2_Silent_p.A235A	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	235					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TTGAAAATGCTAAAATTCTTA	0.294																																						uc001svb.1																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24						c.(703-705)gcT>gcG		Homo sapiens chaperonin containing TCP1, subunit 2 (beta) (CCT2), transcript variant 1, mRNA.							64.0	75.0	71.0					12																	69985894		2202	4299	6501	SO:0001819	synonymous_variant	10576				'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding	g.chr12:69985894T>G	AF026293	CCDS8991.1, CCDS55843.1	12q14	2011-09-02						"""Heat Shock Proteins / Chaperonins"""	1615	protein-coding gene	gene with protein product		605139				9819444	Standard	NM_001198842		Approved	Cctb	uc001svb.1	P78371	OTTHUMG00000169383	ENST00000299300.6:c.705T>G	12.37:g.69985894T>G						CCT2_uc010stl.1_Silent_p.A188A	p.A235A	NM_006431	NP_001185771	P78371	TCPB_HUMAN	Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		7	799	+	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		235					A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3	Silent	SNP	ENST00000299300.6	37	c.705T>G	CCDS8991.1																																																																																				0.294	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403818.1	NM_006431	
SCARB1	949	broad.mit.edu	37	12	125294730	125294730	+	Nonsense_Mutation	SNP	C	C	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr12:125294730C>A	ENST00000415380.2	-	6	957	c.832G>T	c.(832-834)Gag>Tag	p.E278*	SCARB1_ENST00000339570.5_Nonsense_Mutation_p.E278*|SCARB1_ENST00000540495.1_Nonsense_Mutation_p.E241*|SCARB1_ENST00000261693.6_Nonsense_Mutation_p.E278*|SCARB1_ENST00000376788.1_Nonsense_Mutation_p.E178*|SCARB1_ENST00000546215.1_Nonsense_Mutation_p.E278*|SCARB1_ENST00000541205.1_Nonsense_Mutation_p.E237*|SCARB1_ENST00000544327.1_Nonsense_Mutation_p.E224*|SCARB1_ENST00000535005.1_5'UTR			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	278					adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	CGGCAGGCCTCCGGGCTGTAG	0.552																																						uc001ugp.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17						c.(832-834)Gag>Tag		Homo sapiens scavenger receptor class B, member 1 (SCARB1), transcript variant 2, mRNA.	Phosphatidylserine(DB00144)						36.0	37.0	36.0					12																	125294730		2203	4300	6503	SO:0001587	stop_gained	949				adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity	g.chr12:125294730C>A	Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"""	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.832G>T	12.37:g.125294730C>A	ENSP00000414979:p.Glu278*					SCARB1_uc001ugm.4_Nonsense_Mutation_p.E278*|SCARB1_uc001ugn.4_Nonsense_Mutation_p.E278*|SCARB1_uc010tbd.2_Nonsense_Mutation_p.E278*|SCARB1_uc001ugo.4_Nonsense_Mutation_p.E278*	p.E278*	NM_001082959	NP_001076428	Q8WTV0	SCRB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	5	1085	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		278					F8W8N0|Q14016|Q52LZ5|Q6KFX4	Nonsense_Mutation	SNP	ENST00000415380.2	37	c.832G>T		.	.	.	.	.	.	.	.	.	.	C	38	7.248345	0.98161	.	.	ENSG00000073060	ENST00000339570;ENST00000415380;ENST00000261693;ENST00000376788;ENST00000546215;ENST00000541205;ENST00000544327;ENST00000540495	.	.	.	5.39	5.39	0.77823	.	0.270402	0.39020	N	0.001484	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.8162	19.1557	0.93509	0.0:1.0:0.0:0.0	.	.	.	.	X	278;278;278;178;278;237;224;241	.	ENSP00000261693:E278X	E	-	1	0	SCARB1	123860683	1.000000	0.71417	0.710000	0.30468	0.919000	0.55068	7.265000	0.78442	2.517000	0.84864	0.462000	0.41574	GAG		0.552	SCARB1-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000400165.1	NM_005505	
MYO16	23026	broad.mit.edu	37	13	109792874	109792874	+	Frame_Shift_Del	DEL	G	G	-			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr13:109792874delG	ENST00000357550.2	+	31	4289	c.4248delG	c.(4246-4248)ctgfs	p.L1416fs	MYO16_ENST00000356711.2_Frame_Shift_Del_p.L1416fs	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TCGAGATGCTGGGGCACGCGG	0.736																																						uc010agk.2																			0				NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121						c.(4312-4314)ctgfs		Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.							4.0	5.0	5.0					13																	109792874		1866	3715	5581	SO:0001589	frameshift_variant	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109792874delG		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.4248delG	13.37:g.109792874delG	ENSP00000350160:p.Leu1416fs					MYO16_uc001vqt.1_Frame_Shift_Del_p.L1416fs	p.L1438fs	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		31	4936	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		1416			Pro-rich.			Frame_Shift_Del	DEL	ENST00000357550.2	37	c.4314delG	CCDS32008.1																																																																																				0.736	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011	
OR4K13	390433	broad.mit.edu	37	14	20502107	20502107	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr14:20502107G>A	ENST00000315693.2	-	1	812	c.811C>T	c.(811-813)Ctt>Ttt	p.L271F	AL359218.1_ENST00000580563.1_RNA	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AACACAGAAAGAATTTTATCT	0.378																																						uc010tkz.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24						c.(811-813)Ctt>Ttt		Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.							49.0	50.0	50.0					14																	20502107		2203	4300	6503	SO:0001583	missense	390433				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20502107G>A		CCDS32028.1	14q11.2	2013-09-23			ENSG00000176253	ENSG00000176253		"""GPCR / Class A : Olfactory receptors"""	15351	protein-coding gene	gene with protein product							Standard	NM_001004714		Approved		uc010tkz.2	Q8NH42	OTTHUMG00000170781	ENST00000315693.2:c.811C>T	14.37:g.20502107G>A	ENSP00000319322:p.Leu271Phe						p.L271F	NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	0	811	-	all_cancers(95;0.00108)		271					Q6IF13	Missense_Mutation	SNP	ENST00000315693.2	37	c.811C>T	CCDS32028.1	.	.	.	.	.	.	.	.	.	.	.	8.458	0.854546	0.17106	.	.	ENSG00000176253	ENST00000315693	T	0.38401	1.14	3.46	3.46	0.39613	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34750	U	0.003704	T	0.42200	0.1192	L	0.60845	1.875	0.09310	N	1	P	0.41673	0.759	P	0.51016	0.656	T	0.24476	-1.0159	10	0.56958	D	0.05	.	6.2023	0.20583	0.0:0.2045:0.5853:0.2101	.	271	Q8NH42	OR4KD_HUMAN	F	271	ENSP00000319322:L271F	ENSP00000319322:L271F	L	-	1	0	OR4K13	19571947	0.000000	0.05858	0.978000	0.43139	0.074000	0.17049	-0.001000	0.12947	1.757000	0.51966	0.514000	0.50259	CTT		0.378	OR4K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410344.1		
ELMSAN1	91748	broad.mit.edu	37	14	74203800	74203800	+	Silent	SNP	G	G	A	rs371285703	byFrequency	TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr14:74203800G>A	ENST00000286523.5	-	3	2432	c.1650C>T	c.(1648-1650)gaC>gaT	p.D550D	ELMSAN1_ENST00000394071.2_Silent_p.D550D|ELMSAN1_ENST00000486739.1_5'Flank	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	550					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GACCCTTCCCGTCCTCATCAA	0.602													G|||	2	0.000399361	0.0	0.0014	5008	,	,		18108	0.0		0.0	False		,,,				2504	0.001					uc010tud.1																			0				NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(4)	37						c.(1648-1650)gaC>gaT		Homo sapiens chromosome 14 open reading frame 43 (C14orf43), transcript variant 1, mRNA.		G	,	0,4406		0,0,2203	99.0	84.0	89.0		1650,1650	-7.2	0.8	14		89	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	C14orf43	NM_001043318.1,NM_194278.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	550/1046,550/1046	74203800	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	91748				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr14:74203800G>A	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.1650C>T	14.37:g.74203800G>A						C14orf43_uc001xot.3_Silent_p.D550D|C14orf43_uc001xou.3_Silent_p.D550D|C14orf43_uc010arw.2_Non-coding_Transcript	p.D550D	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)	1	1897	-			550					Q6PK13|Q6PK59|Q6ZS23	Silent	SNP	ENST00000286523.5	37	c.1650C>T	CCDS9819.1																																																																																				0.602	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278	
NUDT14	256281	broad.mit.edu	37	14	105642875	105642875	+	Missense_Mutation	SNP	A	A	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr14:105642875A>T	ENST00000392568.2	-	4	517	c.424T>A	c.(424-426)Tac>Aac	p.Y142N	RP11-44N21.4_ENST00000548203.1_RNA|NUDT14_ENST00000550912.1_5'Flank	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 14	142	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ADP-ribose diphosphatase activity (GO:0047631)|metal ion binding (GO:0046872)|UDP-sugar diphosphatase activity (GO:0008768)			cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		ACTCACCAGTATGTGGCGACC	0.642										HNSCC(42;0.11)																												uc010tyn.2																			0				cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14						c.(424-426)Tac>Aac		Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 14 (NUDT14), mRNA.							38.0	38.0	38.0					14																	105642875		2191	4290	6481	SO:0001583	missense	256281					cytoplasm	metal ion binding|protein binding|UDP-sugar diphosphatase activity	g.chr14:105642875A>T	AB087802	CCDS10000.1	14q32.33	2013-02-15			ENSG00000183828	ENSG00000183828		"""Nudix motif containing"""	20141	protein-coding gene	gene with protein product		609219				12429023	Standard	NM_177533		Approved	UGPP	uc010tyn.3	O95848	OTTHUMG00000170372	ENST00000392568.2:c.424T>A	14.37:g.105642875A>T	ENSP00000376349:p.Tyr142Asn	HNSCC(42;0.11)				NUDT14_uc001yqi.3_Non-coding_Transcript	p.Y142N	NM_177533	NP_803877	O95848	NUD14_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	3	538	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	142			Nudix hydrolase.		Q86SJ8	Missense_Mutation	SNP	ENST00000392568.2	37	c.424T>A	CCDS10000.1	.	.	.	.	.	.	.	.	.	.	A	13.17	2.158680	0.38119	.	.	ENSG00000183828	ENST00000392568;ENST00000535832	T	0.09538	2.97	3.82	2.62	0.31277	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.158688	0.43747	D	0.000528	T	0.29491	0.0735	M	0.87900	2.915	0.80722	D	1	D	0.64830	0.994	D	0.66979	0.948	T	0.02431	-1.1160	10	0.36615	T	0.2	.	6.27	0.20949	0.7779:0.0:0.0:0.2221	.	142	O95848	NUD14_HUMAN	N	142	ENSP00000376349:Y142N	ENSP00000376349:Y142N	Y	-	1	0	NUDT14	104713920	0.983000	0.35010	0.134000	0.22075	0.026000	0.11368	2.878000	0.48515	0.766000	0.33244	0.460000	0.39030	TAC		0.642	NUDT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074544.4	NM_177533	
IGHD6-19	28486	broad.mit.edu	37	14	106360394	106360394	+	RNA	SNP	G	G	C	rs377318866	byFrequency	TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr14:106360394G>C	ENST00000390574.1	-	0	0				IGHD5-18_ENST00000390575.1_RNA|IGHD4-17_ENST00000431870.1_RNA|IGHD3-16_ENST00000390577.1_RNA|AL122127.25_ENST00000418566.1_lincRNA					immunoglobulin heavy diversity 6-19																		CAGTAGGAGGGGCCTTCACAA	0.607																																						uc021ser.1																			0											c.e3734+1		Parts of antibodies, mostly variable regions.							81.0	75.0	77.0					14																	106360394		1903	4036	5939			8755							g.chr14:106360394G>C	X97051		14q32.33	2012-02-08			ENSG00000211914	ENSG00000211914		"""Immunoglobulins / IGH locus"""	5515	other	immunoglobulin gene						3138112	Standard	NG_001019		Approved	IGHD619			OTTHUMG00000152431		14.37:g.106360394G>C						KIAA0125_uc001ysq.3_Intron|KIAA0125_uc001ysr.3_Intron								3734		-									Splice_Site	SNP	ENST00000390574.1	37	c.56793_splice																																																																																					0.607	IGHD6-19-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	IG_D_gene	IG_D_gene	OTTHUMT00000326209.1	NG_001019	
TJP1	7082	broad.mit.edu	37	15	30000963	30000963	+	Silent	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr15:30000963G>A	ENST00000346128.6	-	25	5124	c.4650C>T	c.(4648-4650)caC>caT	p.H1550H	TJP1_ENST00000400011.2_Silent_p.H1474H|TJP1_ENST00000356107.6_Silent_p.H1550H|TJP1_ENST00000545208.2_Silent_p.H1470H	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1550					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GCAGAAGATTGTGATTGAATT	0.413																																					Melanoma(77;681 1843 6309 6570)	uc001zcr.3																			0				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68						c.(4648-4650)caC>caT		Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.							283.0	261.0	268.0					15																	30000963		1914	4147	6061	SO:0001819	synonymous_variant	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30000963G>A		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.4650C>T	15.37:g.30000963G>A						TJP1_uc010azl.3_Silent_p.H1538H|TJP1_uc001zcq.3_Silent_p.H1474H|TJP1_uc001zcs.3_Silent_p.H1470H	p.H1550H	NM_003257	NP_003248	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	24	5125	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	1550					B4E3K1|Q2NKP3|Q4ZGJ6	Silent	SNP	ENST00000346128.6	37	c.4650C>T	CCDS42007.1																																																																																				0.413	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257	
BAHD1	22893	broad.mit.edu	37	15	40750817	40750817	+	Missense_Mutation	SNP	C	C	T	rs144910683		TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr15:40750817C>T	ENST00000416165.1	+	2	225	c.154C>T	c.(154-156)Cgc>Tgc	p.R52C	BAHD1_ENST00000560846.1_Missense_Mutation_p.R52C|BAHD1_ENST00000561234.1_Missense_Mutation_p.R52C	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	52					heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CACAGGGCGCCGCAAGAATTA	0.632																																						uc001zlu.2																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28						c.(154-156)Cgc>Tgc		Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA.							78.0	72.0	74.0					15																	40750817		2203	4300	6503	SO:0001583	missense	22893				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	g.chr15:40750817C>T	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.154C>T	15.37:g.40750817C>T	ENSP00000396976:p.Arg52Cys					BAHD1_uc001zlt.2_Missense_Mutation_p.R52C|BAHD1_uc010bbp.1_Missense_Mutation_p.R52C|BAHD1_uc001zlv.2_Missense_Mutation_p.R52C	p.R52C	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)	1	225	+		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	52					Q8NDF7|Q9Y2F4	Missense_Mutation	SNP	ENST00000416165.1	37	c.154C>T	CCDS10058.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.371994	0.42003	.	.	ENSG00000140320	ENST00000416165	T	0.27256	1.68	5.14	4.18	0.49190	.	0.000000	0.85682	D	0.000000	T	0.32912	0.0845	N	0.14661	0.345	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.23013	-1.0200	10	0.87932	D	0	-21.6492	13.7779	0.63066	0.2661:0.7338:0.0:0.0	.	52;52;52	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	C	52	ENSP00000396976:R52C	ENSP00000396976:R52C	R	+	1	0	BAHD1	38538109	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.335000	0.43929	2.668000	0.90789	0.655000	0.94253	CGC		0.632	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952	
SLCO3A1	28232	broad.mit.edu	37	15	92690225	92690225	+	Silent	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr15:92690225C>T	ENST00000318445.6	+	8	1738	c.1524C>T	c.(1522-1524)ggC>ggT	p.G508G	RP11-152L20.3_ENST00000561674.1_RNA|SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Silent_p.G508G	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	508	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	ATCTCACGGGCTGTGCGTGCC	0.557																																						uc002bqx.2																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25						c.(1522-1524)ggC>ggT		Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.							85.0	71.0	75.0					15																	92690225		2198	4298	6496	SO:0001819	synonymous_variant	28232				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	g.chr15:92690225C>T	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.1524C>T	15.37:g.92690225C>T						SLCO3A1_uc002bqy.2_Silent_p.G508G|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Silent_p.G450G	p.G508G	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0841)		7	1725	+	Lung NSC(78;0.0158)|all_lung(78;0.0255)		508			Kazal-like.		A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Silent	SNP	ENST00000318445.6	37	c.1524C>T	CCDS10371.1																																																																																				0.557	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272	
SSTR5	6755	broad.mit.edu	37	16	1129429	1129429	+	Silent	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr16:1129429C>T	ENST00000293897.4	+	1	649	c.561C>T	c.(559-561)aaC>aaT	p.N187N	SSTR5_ENST00000397547.2_Silent_p.N187N|SSTR5-AS1_ENST00000569832.1_RNA|SSTR5_ENST00000562758.1_Silent_p.N187N	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	187					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	GTACCTGCAACGCCAGCTGGC	0.692																																						uc021taf.1																			0				endometrium(2)|lung(5)|prostate(1)|skin(1)	9						c.(559-561)aaC>aaT		Homo sapiens somatostatin receptor 5 (SSTR5), transcript variant 2, mRNA.	Octreotide(DB00104)						21.0	26.0	24.0					16																	1129429		2170	4280	6450	SO:0001819	synonymous_variant	6755				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr16:1129429C>T	D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"""GPCR / Class A : Somatostatin receptors"""	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.561C>T	16.37:g.1129429C>T						LOC146336_uc002cko.3_5'Flank|LOC146336_uc002ckp.1_5'Flank|SSTR5_uc002ckq.3_Silent_p.N187N	p.N187N	NM_001172560	NP_001166031	P35346	SSR5_HUMAN			1	632	+		Hepatocellular(780;0.00369)	187					P34988|Q541E0|Q9UJI5	Silent	SNP	ENST00000293897.4	37	c.561C>T	CCDS10429.1																																																																																				0.692	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1		
MYH8	4626	broad.mit.edu	37	17	10295897	10295897	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr17:10295897G>A	ENST00000403437.2	-	38	5624	c.5530C>T	c.(5530-5532)Cgg>Tgg	p.R1844W	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1844					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCATGTTTCCGTAAACCTTTA	0.433									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(5530-5532)Cgg>Tgg		Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.							195.0	181.0	185.0					17																	10295897		2202	4300	6502	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10295897G>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.5530C>T	17.37:g.10295897G>A	ENSP00000384330:p.Arg1844Trp					AK097500_uc002gml.1_Intron	p.R1844W	NM_002472	NP_002463	P13535	MYH8_HUMAN			37	5625	-			1844					Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.5530C>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.737895	0.89573	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.83335	-1.71	5.03	4.04	0.47022	Myosin tail (1);	0.000000	0.40144	U	0.001164	D	0.93858	0.8035	H	0.97051	3.93	0.58432	D	0.999996	D	0.89917	1.0	D	0.83275	0.996	D	0.95632	0.8690	10	0.87932	D	0	.	14.4973	0.67698	0.0:0.0:0.8477:0.1523	.	1844	P13535	MYH8_HUMAN	W	1844	ENSP00000384330:R1844W	ENSP00000252173:R1844W	R	-	1	2	MYH8	10236622	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	3.817000	0.55668	1.282000	0.44496	0.650000	0.86243	CGG		0.433	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472	
STAT3	6774	broad.mit.edu	37	17	40474479	40474479	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr17:40474479G>A	ENST00000264657.5	-	21	2234	c.1922C>T	c.(1921-1923)aCa>aTa	p.T641I	STAT3_ENST00000585517.1_Missense_Mutation_p.T641I|STAT3_ENST00000404395.3_Missense_Mutation_p.T641I|STAT3_ENST00000389272.3_Missense_Mutation_p.T543I|STAT3_ENST00000588969.1_Missense_Mutation_p.T641I	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	641	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CTGCTGCTTTGTGTATGGTTC	0.463									Hyperimmunoglobulin E Recurrent Infection Syndrome																													uc002hzl.1																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1921-1923)aCa>aTa		Homo sapiens signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3), transcript variant 1, mRNA.							247.0	216.0	227.0					17																	40474479		2203	4300	6503	SO:0001583	missense	6774	Hyperimmunoglobulin E Recurrent Infection Syndrome	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr17:40474479G>A	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"""SH2 domain containing"""	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.1922C>T	17.37:g.40474479G>A	ENSP00000264657:p.Thr641Ile					STAT3_uc002hzk.1_Missense_Mutation_p.T641I|STAT3_uc002hzm.1_Missense_Mutation_p.T641I|STAT3_uc010wgh.1_Missense_Mutation_p.T543I|STAT3_uc002hzn.1_Missense_Mutation_p.T641I	p.T641I	NM_139276	NP_644805	P40763	STAT3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.139)	20	2162	-		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)	641			SH2.		A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	ENST00000264657.5	37	c.1922C>T	CCDS32656.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.444980	0.83993	.	.	ENSG00000168610	ENST00000264657;ENST00000389272;ENST00000404395	D;D;D	0.97378	-4.36;-4.36;-4.36	4.64	4.64	0.57946	SH2 motif (4);	0.056155	0.64402	D	0.000001	D	0.98223	0.9412	M	0.73598	2.24	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.99;0.994;0.994	D	0.99418	1.0932	10	0.87932	D	0	-6.801	17.7038	0.88303	0.0:0.0:1.0:0.0	.	641;641;641	P40763-2;P40763;B5BTZ6	.;STAT3_HUMAN;.	I	641;543;641	ENSP00000264657:T641I;ENSP00000373923:T543I;ENSP00000384943:T641I	ENSP00000264657:T641I	T	-	2	0	STAT3	37728005	1.000000	0.71417	0.999000	0.59377	0.791000	0.44710	7.804000	0.85993	2.411000	0.81874	0.563000	0.77884	ACA		0.463	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150	
LRRC30	339291	broad.mit.edu	37	18	7231759	7231759	+	Missense_Mutation	SNP	T	T	C			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr18:7231759T>C	ENST00000383467.2	+	1	637	c.623T>C	c.(622-624)cTg>cCg	p.L208P		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	208										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						ATCCAGCACCTGGCCAGCCTG	0.562																																						uc010wzk.2																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						c.(622-624)cTg>cCg		Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA.							67.0	73.0	71.0					18																	7231759		2134	4258	6392	SO:0001583	missense	339291							g.chr18:7231759T>C		CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.623T>C	18.37:g.7231759T>C	ENSP00000372959:p.Leu208Pro						p.L208P	NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN			0	623	+			208						Missense_Mutation	SNP	ENST00000383467.2	37	c.623T>C	CCDS42409.1	.	.	.	.	.	.	.	.	.	.	T	14.04	2.416337	0.42918	.	.	ENSG00000206422	ENST00000383467	T	0.36157	1.27	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.72740	0.3498	H	0.96208	3.785	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.82348	-0.0502	10	0.87932	D	0	.	16.4323	0.83853	0.0:0.0:0.0:1.0	.	208	A6NM36	LRC30_HUMAN	P	208	ENSP00000372959:L208P	ENSP00000372959:L208P	L	+	2	0	LRRC30	7221759	1.000000	0.71417	0.997000	0.53966	0.093000	0.18481	7.698000	0.84413	2.281000	0.76405	0.528000	0.53228	CTG		0.562	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1	XM_292678	
DCC	1630	broad.mit.edu	37	18	50278484	50278484	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr18:50278484C>T	ENST00000442544.2	+	2	768	c.152C>T	c.(151-153)aCa>aTa	p.T51I	DCC_ENST00000412726.1_5'Flank	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	51	Ig-like C2-type 1.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GATGCCGTCACAATGCGGGGA	0.498																																						uc002lfe.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(151-153)aCa>aTa		Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.							64.0	63.0	63.0					18																	50278484		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50278484C>T	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.152C>T	18.37:g.50278484C>T	ENSP00000389140:p.Thr51Ile					DCC_uc010xdr.1_5'UTR	p.T51I	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	1	768	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	51			Ig-like C2-type 1.			Missense_Mutation	SNP	ENST00000442544.2	37	c.152C>T	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.857530	0.51376	.	.	ENSG00000187323	ENST00000442544	T	0.10477	2.87	5.66	5.66	0.87406	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.13884	0.0336	N	0.12887	0.27	0.80722	D	1	P	0.46220	0.874	P	0.53988	0.739	T	0.26538	-1.0100	10	0.25751	T	0.34	.	18.5252	0.90969	0.0:1.0:0.0:0.0	.	51	P43146	DCC_HUMAN	I	51	ENSP00000389140:T51I	ENSP00000389140:T51I	T	+	2	0	DCC	48532482	1.000000	0.71417	0.925000	0.36789	0.714000	0.41099	5.682000	0.68182	2.676000	0.91093	0.655000	0.94253	ACA		0.498	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215	
MUC16	94025	broad.mit.edu	37	19	9006685	9006685	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr19:9006685C>T	ENST00000397910.4	-	44	39766	c.39563G>A	c.(39562-39564)gGc>gAc	p.G13188D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13190	SEA 8. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTCCTGGAGCCAGGGTGACC	0.527																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(39562-39564)gGc>gAc		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							236.0	193.0	207.0					19																	9006685		1982	4143	6125	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9006685C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.39563G>A	19.37:g.9006685C>T	ENSP00000381008:p.Gly13188Asp					MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.G5D|MUC16_uc021uog.1_Intron	p.G13188D	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			43	39767	-			13190			SEA 8.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.39563G>A	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.14|12.14	1.849920|1.849920	0.32699|0.32699	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000441155	.|T	.|0.62941	.|-0.01	2.99|2.99	1.88|1.88	0.25563|0.25563	.|SEA (1);	.|.	.|.	.|.	.|.	T|T	0.75110|0.75110	0.3805|0.3805	M|M	0.77616|0.77616	2.38|2.38	.|.	.|.	.|.	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.80764	.|0.979;0.994	T|T	0.79019|0.79019	-0.1974|-0.1974	4|8	.|0.87932	.|D	.|0	-7.2655|-7.2655	7.7113|7.7113	0.28679|0.28679	0.0:0.7378:0.2622:0.0|0.0:0.7378:0.2622:0.0	.|.	.|20833;13188	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	T|D	28|13188;319	.|ENSP00000381008:G13188D	.|ENSP00000381008:G13188D	A|G	-|-	1|2	0|0	MUC16|MUC16	8867685|8867685	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.007000|0.007000	0.05969|0.05969	-0.399000|-0.399000	0.07250|0.07250	0.754000|0.754000	0.32968|0.32968	0.557000|0.557000	0.71058|0.71058	GCT|GGC		0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
CYP2A13	1553	broad.mit.edu	37	19	41600897	41600897	+	Silent	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr19:41600897C>T	ENST00000330436.3	+	8	1195	c.1195C>T	c.(1195-1197)Ctg>Ttg	p.L399L		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	399					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	GGGCTCCGTGCTGAGAGACCC	0.557																																						uc002opt.3																			0				breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42						c.(1195-1197)Ctg>Ttg		Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	Clomipramine(DB01242)|Nicotine(DB00184)						123.0	112.0	116.0					19																	41600897		2203	4300	6503	SO:0001819	synonymous_variant	1553				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41600897C>T	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"""Cytochrome P450s"""	2608	protein-coding gene	gene with protein product		608055	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"""			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.1195C>T	19.37:g.41600897C>T							p.L399L	NM_000766	NP_000757	Q16696	CP2AD_HUMAN			7	1204	+			399					Q53YR8|Q6R569|Q6R570|Q9H2X2	Silent	SNP	ENST00000330436.3	37	c.1195C>T	CCDS12571.1																																																																																				0.557	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766	
PSG8	440533	broad.mit.edu	37	19	43258694	43258694	+	Missense_Mutation	SNP	C	C	T	rs148019273	byFrequency	TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr19:43258694C>T	ENST00000306511.4	-	5	1131	c.1034G>A	c.(1033-1035)cGt>cAt	p.R345H	PSG8_ENST00000404209.4_Missense_Mutation_p.R345H|PSG8_ENST00000401467.2_Missense_Mutation_p.R252H|PSG8_ENST00000406636.3_Missense_Mutation_p.R223H|PSG8_ENST00000600709.1_5'UTR	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	345	Ig-like C2-type 3.					extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TTCTCCTGAACGGTAATAGGT	0.473													.|||	5	0.000998403	0.0	0.0	5008	,	,		19966	0.0		0.0	False		,,,				2504	0.0051					uc002ouo.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(1033-1035)cGt>cAt		Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.		C	HIS/ARG,HIS/ARG,HIS/ARG	1,4403		0,1,2201	71.0	80.0	77.0		1034,668,1034	-2.8	0.0	19	dbSNP_134	77	3,8589		0,3,4293	no	missense,missense,missense	PSG8	NM_001130167.1,NM_001130168.1,NM_182707.2	29,29,29	0,4,6494	TT,TC,CC		0.0349,0.0227,0.0308	benign,benign,benign	345/420,223/298,345/427	43258694	4,12992	2202	4296	6498	SO:0001583	missense	440533					extracellular region		g.chr19:43258694C>T	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.1034G>A	19.37:g.43258694C>T	ENSP00000305005:p.Arg345His					PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Non-coding_Transcript|PSG8_uc002ouh.3_Missense_Mutation_p.R345H|PSG8_uc010ein.3_Missense_Mutation_p.R223H|PSG3_uc002oun.3_Intron	p.R345H	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN			4	1132	-		Prostate(69;0.00899)	345			Ig-like C2-type 3.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.1034G>A	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	N	0.173	-1.069224	0.01918	2.27E-4	3.49E-4	ENSG00000124467	ENST00000404209;ENST00000292109;ENST00000406636;ENST00000401467;ENST00000426252;ENST00000407488;ENST00000306511	T;T;T;T	0.13307	2.6;2.6;2.6;2.6	1.38	-2.76	0.05896	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.06508	0.0167	L	0.28400	0.85	0.09310	N	1	B;B;B;B;B;B	0.24317	0.002;0.101;0.012;0.008;0.002;0.003	B;B;B;B;B;B	0.22880	0.005;0.042;0.027;0.04;0.008;0.013	T	0.42137	-0.9469	9	0.13108	T	0.6	.	0.3883	0.00406	0.1966:0.3026:0.1968:0.3041	.	223;252;345;252;345;345	Q9UQ74-2;B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;.;PSG8_HUMAN;.;.;.	H	345;127;223;252;157;252;345	ENSP00000385869:R345H;ENSP00000385081:R223H;ENSP00000386090:R252H;ENSP00000305005:R345H	ENSP00000292109:R127H	R	-	2	0	PSG8	47950534	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.681000	0.00394	-2.047000	0.00908	-1.261000	0.01458	CGT		0.473	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1		
CEACAM16	388551	broad.mit.edu	37	19	45208902	45208902	+	Missense_Mutation	SNP	G	G	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr19:45208902G>T	ENST00000405314.2	+	4	801	c.704G>T	c.(703-705)cGc>cTc	p.R235L	CEACAM16_ENST00000587331.1_Missense_Mutation_p.R235L|CTB-171A8.1_ENST00000590796.1_RNA			Q2WEN9	CEA16_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	235	Ig-like C2-type 2.				sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)|stereocilium bundle tip (GO:0032426)				endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				TCCACCACCCGCACAGGCTGC	0.612																																						uc010xxd.2																			0				endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9						c.(703-705)cGc>cTc		Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 16 (CEACAM16), mRNA.							59.0	64.0	62.0					19																	45208902		2094	4206	6300	SO:0001583	missense	388551							g.chr19:45208902G>T		CCDS54278.1	19q13.31	2014-01-27			ENSG00000213892	ENSG00000213892		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31948	protein-coding gene	gene with protein product		614591				21368133	Standard	NM_001039213		Approved	DFNA4B	uc010xxd.2	Q2WEN9	OTTHUMG00000151519	ENST00000405314.2:c.704G>T	19.37:g.45208902G>T	ENSP00000385576:p.Arg235Leu						p.R235L	NM_001039213	NP_001034302	A7LI12	A7LI12_HUMAN			4	910	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)	235					A7LI12	Missense_Mutation	SNP	ENST00000405314.2	37	c.704G>T	CCDS54278.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.627866	0.46944	.	.	ENSG00000213892	ENST00000396750;ENST00000405314	T	0.18810	2.19	5.24	3.06	0.35304	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.344301	0.17183	U	0.183810	T	0.08088	0.0202	N	0.02539	-0.55	0.32388	N	0.553628	B	0.12630	0.006	B	0.12837	0.008	T	0.06180	-1.0841	10	0.46703	T	0.11	-18.6793	7.076	0.25205	0.0901:0.0:0.7417:0.1682	.	294	Q2WEN9	CEA16_HUMAN	L	300;235	ENSP00000385576:R235L	ENSP00000379974:R300L	R	+	2	0	CEACAM16	49900742	0.902000	0.30710	1.000000	0.80357	0.997000	0.91878	0.655000	0.24933	1.186000	0.42985	0.561000	0.74099	CGC		0.612	CEACAM16-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		XM_371177	
TEAD2	8463	broad.mit.edu	37	19	49862740	49862740	+	Silent	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr19:49862740G>A	ENST00000311227.2	-	3	339	c.249C>T	c.(247-249)atC>atT	p.I83I	DKKL1_ENST00000594268.1_5'Flank|TEAD2_ENST00000601519.1_Silent_p.I83I|TEAD2_ENST00000598810.1_Silent_p.I83I|TEAD2_ENST00000598397.1_5'Flank|TEAD2_ENST00000539846.1_5'UTR|AC010524.4_ENST00000596488.1_RNA|TEAD2_ENST00000377214.4_Silent_p.I83I|TEAD2_ENST00000593945.1_Silent_p.I83I	NM_001256659.1|NM_003598.1	NP_001243588.1|NP_003589.1	Q15562	TEAD2_HUMAN	TEA domain family member 2	83					gene expression (GO:0010467)|hippo signaling (GO:0035329)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		TGTAGCGGGCGATCAGTTCAT	0.512																																						uc002pnh.3																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29						c.(247-249)atC>atT		Homo sapiens TEA domain family member 2 (TEAD2), mRNA.							222.0	190.0	201.0					19																	49862740		2203	4300	6503	SO:0001819	synonymous_variant	8463				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:49862740G>A	X94440	CCDS12761.1, CCDS58670.1, CCDS58671.1, CCDS59406.1	19q13.3	2008-07-22							11715	protein-coding gene	gene with protein product		601729				9889009, 8702974	Standard	NM_003598		Approved	TEF-4, ETF, TEF4	uc031rls.1	Q15562		ENST00000311227.2:c.249C>T	19.37:g.49862740G>A						TEAD2_uc002png.3_Silent_p.I83I|TEAD2_uc002pni.3_Silent_p.I83I|TEAD2_uc002pnj.3_Silent_p.I83I|TEAD2_uc010yao.2_5'UTR|TEAD2_uc010emw.3_Silent_p.I83I	p.I83I	NM_003598	NP_003589	Q15562	TEAD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)	2	355	-		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)	83					B4DTJ6|M0R1T9|Q8NA25|Q96IG3	Silent	SNP	ENST00000311227.2	37	c.249C>T	CCDS12761.1																																																																																				0.512	TEAD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465465.1	NM_003598	
MXD1	4084	broad.mit.edu	37	2	70164461	70164461	+	Missense_Mutation	SNP	T	T	C			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr2:70164461T>C	ENST00000264444.2	+	5	673	c.413T>C	c.(412-414)aTt>aCt	p.I138T	MXD1_ENST00000540449.1_Missense_Mutation_p.I128T	NM_001202513.1|NM_001202514.1|NM_002357.3	NP_001189442.1|NP_001189443.1|NP_002348.1	Q05195	MAD1_HUMAN	MAX dimerization protein 1	138					cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	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 negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						AAGCTGGGCATTGAGAGGATC	0.577																																						uc002sfy.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						c.(412-414)aTt>aCt		Homo sapiens MAX dimerization protein 1 (MXD1), transcript variant 1, mRNA.							89.0	89.0	89.0					2																	70164461		2203	4300	6503	SO:0001583	missense	4084				cell proliferation|multicellular organismal development	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:70164461T>C		CCDS1896.1, CCDS56123.1	2p13-p12	2010-07-07		2005-02-11	ENSG00000059728	ENSG00000059728		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	6761	protein-coding gene	gene with protein product		600021		MAD		7829091	Standard	NM_002357		Approved	MAD1, bHLHc58	uc002sfy.3	Q05195	OTTHUMG00000129646	ENST00000264444.2:c.413T>C	2.37:g.70164461T>C	ENSP00000264444:p.Ile138Thr					MXD1_uc010yqp.2_Missense_Mutation_p.I138T|MXD1_uc010yqs.2_Missense_Mutation_p.I128T|MXD1_uc010yqq.2_Missense_Mutation_p.I75T|MXD1_uc010yqr.2_Non-coding_Transcript|MXD1_uc021vix.1_5'Flank	p.I138T	NM_002357	NP_002348	Q05195	MAD1_HUMAN			4	703	+			138					B2R6V8|B7ZLI6|D6W5G2|Q6FI41	Missense_Mutation	SNP	ENST00000264444.2	37	c.413T>C	CCDS1896.1	.	.	.	.	.	.	.	.	.	.	T	9.847	1.192639	0.21954	.	.	ENSG00000059728	ENST00000435990;ENST00000264444;ENST00000540449	T;T;T	0.42900	1.82;1.82;0.96	5.43	3.09	0.35607	.	0.416726	0.23153	N	0.051323	T	0.20455	0.0492	N	0.14661	0.345	0.21147	N	0.99977	B;B;B	0.18968	0.032;0.032;0.032	B;B;B	0.20184	0.028;0.028;0.028	T	0.22556	-1.0213	10	0.12430	T	0.62	.	5.2955	0.15751	0.0:0.1646:0.1508:0.6846	.	128;138;138	B7ZLI6;B7ZLI7;Q05195	.;.;MAD1_HUMAN	T	106;138;128	ENSP00000410672:I106T;ENSP00000264444:I138T;ENSP00000443935:I128T	ENSP00000264444:I138T	I	+	2	0	MXD1	70017965	0.928000	0.31464	0.159000	0.22649	0.929000	0.56500	2.035000	0.41155	0.522000	0.28464	0.533000	0.62120	ATT		0.577	MXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251845.3	NM_002357	
RAB11FIP5	26056	broad.mit.edu	37	2	73316366	73316366	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr2:73316366C>T	ENST00000258098.6	-	2	749	c.509G>A	c.(508-510)cGc>cAc	p.R170H	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	170					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CAGGTTGTTGCGCGTGAACTG	0.532																																						uc002siu.4																			0				biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						c.(508-510)cGc>cAc		Homo sapiens RAB11 family interacting protein 5 (class I) (RAB11FIP5), mRNA.							328.0	319.0	322.0					2																	73316366		2203	4300	6503	SO:0001583	missense	26056				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	g.chr2:73316366C>T	AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.509G>A	2.37:g.73316366C>T	ENSP00000258098:p.Arg170His					RAB11FIP5_uc002sit.4_Missense_Mutation_p.R92H	p.R170H	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN			1	750	-			170					O94939|Q9P0M1	Missense_Mutation	SNP	ENST00000258098.6	37	c.509G>A	CCDS1923.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822055	0.90873	.	.	ENSG00000135631	ENST00000258098	T	0.33216	1.42	4.6	4.6	0.57074	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.57213	0.2038	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.60672	-0.7217	10	0.54805	T	0.06	-18.9627	16.5264	0.84332	0.0:1.0:0.0:0.0	.	170;170	Q9BXF6;Q2Z1P3	RFIP5_HUMAN;.	H	170	ENSP00000258098:R170H	ENSP00000258098:R170H	R	-	2	0	RAB11FIP5	73169874	1.000000	0.71417	0.997000	0.53966	0.952000	0.60782	5.936000	0.70153	2.570000	0.86706	0.561000	0.74099	CGC		0.532	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470	
TEX37	200523	broad.mit.edu	37	2	88828848	88828848	+	Silent	SNP	G	G	A	rs148580273		TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr2:88828848G>A	ENST00000303254.3	+	4	541	c.399G>A	c.(397-399)ccG>ccA	p.P133P		NM_152670.2	NP_689883.1	Q96LM6	TEX37_HUMAN	testis expressed 37	133						nucleus (GO:0005634)											CTGACTTTCCGTGCCTCGTGG	0.572																																						uc002stb.2																			0				large_intestine(2)|lung(11)|prostate(1)|skin(1)	15						c.(397-399)ccG>ccA		Homo sapiens chromosome 2 open reading frame 51 (C2orf51), mRNA.		G		0,4406		0,0,2203	109.0	97.0	101.0		399	-8.4	0.0	2	dbSNP_134	101	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C2orf51	NM_152670.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		133/181	88828848	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	200523					nucleus		g.chr2:88828848G>A	AK058098	CCDS2003.1	2p11.2	2014-01-28	2012-09-14	2012-09-14	ENSG00000172073	ENSG00000172073			26341	protein-coding gene	gene with protein product	"""Testis-Specific Conserved gene 21kDa"""		"""chromosome 2 open reading frame 51"""	C2orf51		17091336	Standard	NM_152670		Approved	FLJ25369, TSC21	uc002stb.2	Q96LM6	OTTHUMG00000130332	ENST00000303254.3:c.399G>A	2.37:g.88828848G>A							p.P133P	NM_152670	NP_689883	Q96LM6	TSC21_HUMAN			3	541	+			133						Silent	SNP	ENST00000303254.3	37	c.399G>A	CCDS2003.1																																																																																				0.572	TEX37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252682.1	NM_152670	
NMS	129521	broad.mit.edu	37	2	101089991	101089991	+	Missense_Mutation	SNP	G	G	A	rs201102943		TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr2:101089991G>A	ENST00000376865.1	+	3	180	c.173G>A	c.(172-174)cGc>cAc	p.R58H		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	58					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						CCTCTTTCTCGCCAACCTAAG	0.343													G|||	1	0.000199681	0.0	0.0014	5008	,	,		9711	0.0		0.0	False		,,,				2504	0.0					uc002tan.1																			0		p.R58S(2)		breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						c.(172-174)cGc>cAc		Homo sapiens neuromedin S (NMS), mRNA.							47.0	46.0	46.0					2																	101089991		2177	4298	6475	SO:0001583	missense	129521				neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region		g.chr2:101089991G>A	AB164464	CCDS33259.1	2q11.2	2013-02-26			ENSG00000204640	ENSG00000204640		"""Endogenous ligands"""	32203	protein-coding gene	gene with protein product	"""prepro-NMS"""					15635449	Standard	NM_001011717		Approved		uc002tan.1	Q5H8A3	OTTHUMG00000153142	ENST00000376865.1:c.173G>A	2.37:g.101089991G>A	ENSP00000366061:p.Arg58His						p.R58H	NM_001011717	NP_001011717	Q5H8A3	NMS_HUMAN			2	180	+			58						Missense_Mutation	SNP	ENST00000376865.1	37	c.173G>A	CCDS33259.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	3.177	-0.168837	0.06461	.	.	ENSG00000204640	ENST00000376865	T	0.23754	1.89	3.81	-3.39	0.04868	.	1.207740	0.05936	N	0.636093	T	0.16428	0.0395	L	0.44542	1.39	0.09310	N	1	P	0.46220	0.874	B	0.35971	0.215	T	0.25222	-1.0138	10	0.45353	T	0.12	3.2782	4.8169	0.13371	0.5921:0.0:0.2415:0.1664	.	58	Q5H8A3	NMS_HUMAN	H	58	ENSP00000366061:R58H	ENSP00000366061:R58H	R	+	2	0	NMS	100456423	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.190000	0.09615	-0.676000	0.05238	0.650000	0.86243	CGC		0.343	NMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329737.1	NM_001011717	
TTN	7273	broad.mit.edu	37	2	179457532	179457532	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr2:179457532G>A	ENST00000591111.1	-	250	54615	c.54391C>T	c.(54391-54393)Ccg>Tcg	p.P18131S	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P19772S|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P17204S|TTN_ENST00000460472.2_Missense_Mutation_p.P10707S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P10832S|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P10899S|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18131	Fibronectin type-III 31. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTGGCTCCGGAACATGAGCT	0.408																																						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.(51610-51612)Ccg>Tcg		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							103.0	104.0	104.0					2																	179457532		1922	4117	6039	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179457532G>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.54391C>T	2.37:g.179457532G>A	ENSP00000465570:p.Pro18131Ser					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P10899S|TTN_uc021vta.1_Missense_Mutation_p.P10832S|TTN_uc021vtb.1_Missense_Mutation_p.P10707S	p.P17204S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		248	51835	-			18131			Fibronectin type-III 24.		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.51610C>T		.	.	.	.	.	.	.	.	.	.	G	11.45	1.641900	0.29157	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	6.16	6.16	0.99307	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.31638	0.0803	N	0.16098	0.37	0.30155	N	0.802707	P;P;P;P	0.38922	0.651;0.651;0.651;0.651	B;B;B;B	0.30943	0.122;0.122;0.122;0.122	T	0.40384	-0.9566	9	0.87932	D	0	.	15.5636	0.76269	0.0:0.0:0.8622:0.1378	.	10707;10832;10899;18131	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	17204;10707;10899;10832;10705	ENSP00000343764:P17204S;ENSP00000434586:P10707S;ENSP00000340554:P10899S;ENSP00000352154:P10832S	ENSP00000340554:P10899S	P	-	1	0	TTN	179165778	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.141000	0.71744	2.937000	0.99478	0.650000	0.86243	CCG		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
FN1	2335	broad.mit.edu	37	2	216288171	216288171	+	Frame_Shift_Del	DEL	G	G	-			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr2:216288171delG	ENST00000359671.1	-	9	1560	c.1295delC	c.(1294-1296)actfs	p.T432fs	FN1_ENST00000346544.3_Frame_Shift_Del_p.T432fs|FN1_ENST00000357009.2_Frame_Shift_Del_p.T432fs|FN1_ENST00000421182.1_Frame_Shift_Del_p.T432fs|FN1_ENST00000345488.5_Frame_Shift_Del_p.T432fs|FN1_ENST00000357867.4_Frame_Shift_Del_p.T432fs|FN1_ENST00000446046.1_Frame_Shift_Del_p.T432fs|FN1_ENST00000443816.1_Frame_Shift_Del_p.T432fs|FN1_ENST00000356005.4_Frame_Shift_Del_p.T432fs|FN1_ENST00000323926.6_Frame_Shift_Del_p.T432fs|FN1_ENST00000432072.2_Frame_Shift_Del_p.T432fs|FN1_ENST00000354785.4_Frame_Shift_Del_p.T432fs|FN1_ENST00000426059.1_Frame_Shift_Del_p.T432fs|FN1_ENST00000336916.4_Frame_Shift_Del_p.T432fs			P02751	FINC_HUMAN	fibronectin 1	432	Collagen-binding.|Fibronectin type-II 2. {ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	AGTGCAATCAGTGTAATTGTG	0.488																																						uc002vfa.3																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(1294-1296)actfs		Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						141.0	124.0	130.0					2																	216288171		2203	4300	6503	SO:0001589	frameshift_variant	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216288171delG		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.1295delC	2.37:g.216288171delG	ENSP00000352696:p.Thr432fs					FN1_uc002vfc.3_Frame_Shift_Del_p.T432fs|FN1_uc002vfe.3_Frame_Shift_Del_p.T432fs|FN1_uc002vff.3_Frame_Shift_Del_p.T432fs|FN1_uc002vfg.3_Frame_Shift_Del_p.T432fs|FN1_uc002vfh.3_Frame_Shift_Del_p.T432fs|FN1_uc002vfi.3_Frame_Shift_Del_p.T432fs|FN1_uc002vfj.3_Frame_Shift_Del_p.T432fs|FN1_uc002vfb.3_Frame_Shift_Del_p.T432fs|FN1_uc002vfl.3_Frame_Shift_Del_p.T432fs	p.T432fs	NM_212482	NP_997647	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	8	1561	-		Renal(323;0.127)	432			Collagen-binding.|Fibronectin type-II 2.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Frame_Shift_Del	DEL	ENST00000359671.1	37	c.1295delC																																																																																					0.488	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476	
ZFAND2B	130617	broad.mit.edu	37	2	220073015	220073015	+	Missense_Mutation	SNP	A	A	G			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr2:220073015A>G	ENST00000289528.5	+	5	667	c.472A>G	c.(472-474)Aca>Gca	p.T158A	ZFAND2B_ENST00000409206.1_Missense_Mutation_p.T158A|ZFAND2B_ENST00000409097.1_Missense_Mutation_p.T158A|ZFAND2B_ENST00000409217.1_Missense_Mutation_p.T158A|ZFAND2B_ENST00000409594.1_Missense_Mutation_p.T158A|ZFAND2B_ENST00000409336.1_Missense_Mutation_p.T158A|ZFAND2B_ENST00000444522.2_Missense_Mutation_p.T158A	NM_001270998.1|NM_001270999.1|NM_138802.2	NP_001257927.1|NP_001257928.1|NP_620157.1	Q8WV99	ZFN2B_HUMAN	zinc finger, AN1-type domain 2B	158						endoplasmic reticulum (GO:0005783)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTGGCTTCTACAAGCACTGT	0.552																																						uc002vka.3																			0				endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11						c.(472-474)Aca>Gca		Homo sapiens zinc finger, AN1-type domain 2B (ZFAND2B), mRNA.							93.0	74.0	81.0					2																	220073015		2203	4300	6503	SO:0001583	missense	130617					endoplasmic reticulum	protein binding|zinc ion binding	g.chr2:220073015A>G	AK074571	CCDS2435.1, CCDS74656.1	2q35	2010-04-23	2005-08-22		ENSG00000158552	ENSG00000158552		"""Zinc fingers, AN1-type domain containing"""	25206	protein-coding gene	gene with protein product	"""arsenite inducible RNA associated protein-like"""	613474	"""zinc finger, AN1-type 2B"""			18467495	Standard	NM_138802		Approved	AIRAPL	uc002vka.4	Q8WV99	OTTHUMG00000133135	ENST00000289528.5:c.472A>G	2.37:g.220073015A>G	ENSP00000289528:p.Thr158Ala					ZFAND2B_uc010zkt.2_Missense_Mutation_p.T158A|ZFAND2B_uc010fwd.1_Missense_Mutation_p.T158A|ZFAND2B_uc002vjz.1_Missense_Mutation_p.T158A|ZFAND2B_uc002vkb.1_Missense_Mutation_p.T49A	p.T158A	NM_138802	NP_620157	Q8WV99	ZFN2B_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	644	+		Renal(207;0.0915)	158					Q8NB98	Missense_Mutation	SNP	ENST00000289528.5	37	c.472A>G	CCDS2435.1	.	.	.	.	.	.	.	.	.	.	A	0.328	-0.957948	0.02267	.	.	ENSG00000158552	ENST00000409206;ENST00000409594;ENST00000289528;ENST00000422255;ENST00000409097;ENST00000409336;ENST00000409217;ENST00000444522	T;T;T;T;T;T;T;T	0.41758	1.04;1.04;0.99;1.0;0.99;0.99;1.0;0.99	5.18	0.0655	0.14357	.	1.004250	0.08013	N	0.990747	T	0.17023	0.0409	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.25606	-1.0127	10	0.07325	T	0.83	-0.2799	3.1839	0.06594	0.5093:0.0:0.3121:0.1786	.	49;158;158	B3KQB0;Q8WV99;B4DEN4	.;ZFN2B_HUMAN;.	A	158	ENSP00000386824:T158A;ENSP00000386399:T158A;ENSP00000289528:T158A;ENSP00000409931:T158A;ENSP00000387179:T158A;ENSP00000386898:T158A;ENSP00000386370:T158A;ENSP00000411334:T158A	ENSP00000289528:T158A	T	+	1	0	ZFAND2B	219781259	0.000000	0.05858	0.178000	0.23040	0.536000	0.34869	-0.102000	0.10956	-0.125000	0.11703	0.533000	0.62120	ACA		0.552	ZFAND2B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256824.2	NM_138802	
SP110	3431	broad.mit.edu	37	2	231042927	231042927	+	Missense_Mutation	SNP	G	G	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr2:231042927G>T	ENST00000358662.4	-	13	1471	c.1393C>A	c.(1393-1395)Ccc>Acc	p.P465T	SP110_ENST00000338556.3_Missense_Mutation_p.P167T|SP110_ENST00000258381.6_Missense_Mutation_p.P465T|SP110_ENST00000258382.5_Missense_Mutation_p.P465T|SP110_ENST00000392048.3_Missense_Mutation_p.P463T|SP110_ENST00000540870.1_Missense_Mutation_p.P471T	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	465	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		CAGGTCACGGGGAGCTTAGAA	0.413																																						uc002vqg.3																			0				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1393-1395)Ccc>Acc		Homo sapiens SP110 nuclear body protein (SP110), transcript variant c, mRNA.							73.0	70.0	71.0					2																	231042927		2203	4300	6503	SO:0001583	missense	3431				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding	g.chr2:231042927G>T	L22343	CCDS2474.1, CCDS2475.1, CCDS2476.1, CCDS54435.1	2q37.1	2014-09-17	2001-12-19	2001-12-20	ENSG00000135899	ENSG00000135899			5401	protein-coding gene	gene with protein product		604457	"""interferon-induced protein 41, 30kD"""	IFI41, IFI75		7693701, 10388521	Standard	NM_080424		Approved		uc002vqg.3	Q9HB58	OTTHUMG00000133204	ENST00000358662.4:c.1393C>A	2.37:g.231042927G>T	ENSP00000351488:p.Pro465Thr					SP110_uc002vqh.3_Missense_Mutation_p.P465T|SP110_uc002vqi.4_Missense_Mutation_p.P465T|SP110_uc010fxk.3_Missense_Mutation_p.P463T|SP110_uc021vxx.1_Missense_Mutation_p.P471T|SP110_uc010fxj.3_Missense_Mutation_p.P108T	p.P465T	NM_080424	NP_536349	Q9HB58	SP110_HUMAN		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)	12	1633	-		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)	465			SAND.		B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	Missense_Mutation	SNP	ENST00000358662.4	37	c.1393C>A	CCDS2474.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.061818	0.55432	.	.	ENSG00000135899	ENST00000258381;ENST00000358662;ENST00000392048;ENST00000258382;ENST00000540870;ENST00000338556	T;T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44;-0.44	4.99	4.1	0.47936	SAND domain-like (2);SAND domain (3);	0.202091	0.24975	N	0.034107	D	0.82407	0.5030	M	0.88512	2.96	0.26124	N	0.980513	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.974;1.0	D;D;D;D;D	0.97110	0.96;1.0;0.96;0.95;0.999	T	0.74677	-0.3585	10	0.56958	D	0.05	.	10.3589	0.43980	0.0948:0.0:0.9052:0.0	.	463;167;471;465;465	G5E9C0;E7ER70;F5H1M1;Q9HB58;Q9HB58-6	.;.;.;SP110_HUMAN;.	T	465;465;463;465;471;167	ENSP00000258381:P465T;ENSP00000351488:P465T;ENSP00000375902:P463T;ENSP00000258382:P465T;ENSP00000439558:P471T;ENSP00000344049:P167T	ENSP00000258381:P465T	P	-	1	0	SP110	230751171	0.999000	0.42202	0.178000	0.23040	0.026000	0.11368	1.869000	0.39519	1.384000	0.46424	0.655000	0.94253	CCC		0.413	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000332414.1	NM_080424	
BMP2	650	broad.mit.edu	37	20	6758901	6758901	+	Missense_Mutation	SNP	A	A	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr20:6758901A>T	ENST00000378827.4	+	3	1575	c.356A>T	c.(355-357)gAa>gTa	p.E119V		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	119					activation of MAPK activity (GO:0000187)|atrioventricular valve morphogenesis (GO:0003181)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|bone mineralization (GO:0030282)|bone mineralization involved in bone maturation (GO:0035630)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiocyte differentiation (GO:0035051)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation (GO:0002062)|corticotropin hormone secreting cell differentiation (GO:0060128)|embryo development (GO:0009790)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion morphogenesis (GO:0003203)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|inner ear development (GO:0048839)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchyme development (GO:0060485)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of calcium-independent cell-cell adhesion (GO:0051042)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|pericardium development (GO:0060039)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of odontogenesis (GO:0042482)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of Wnt signaling pathway by BMP signaling pathway (GO:0060804)|protein destabilization (GO:0031648)|protein phosphorylation (GO:0006468)|proteoglycan metabolic process (GO:0006029)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP receptor binding (GO:0070700)|phosphatase activator activity (GO:0019211)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)|retinol dehydrogenase activity (GO:0004745)|SMAD binding (GO:0046332)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13						GAATCTTTGGAAGAACTACCA	0.363																																						uc002wmu.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13						c.(355-357)gAa>gTa		Homo sapiens bone morphogenetic protein 2 (BMP2), mRNA.	Simvastatin(DB00641)						40.0	47.0	45.0					20																	6758901		2199	4293	6492	SO:0001583	missense	650				BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding	g.chr20:6758901A>T		CCDS13099.1	20p12	2014-01-30			ENSG00000125845	ENSG00000125845		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1069	protein-coding gene	gene with protein product		112261		BMP2A		2376592	Standard	NM_001200		Approved		uc002wmu.1	P12643	OTTHUMG00000031833	ENST00000378827.4:c.356A>T	20.37:g.6758901A>T	ENSP00000368104:p.Glu119Val						p.E119V	NM_001200	NP_001191	P12643	BMP2_HUMAN			2	1141	+			119						Missense_Mutation	SNP	ENST00000378827.4	37	c.356A>T	CCDS13099.1	.	.	.	.	.	.	.	.	.	.	A	10.59	1.394013	0.25205	.	.	ENSG00000125845	ENST00000378827	T	0.69040	-0.37	5.86	5.86	0.93980	Transforming growth factor-beta, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.82444	0.5038	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84583	0.0662	10	0.87932	D	0	.	16.5602	0.84551	1.0:0.0:0.0:0.0	.	119	P12643	BMP2_HUMAN	V	119	ENSP00000368104:E119V	ENSP00000368104:E119V	E	+	2	0	BMP2	6706901	1.000000	0.71417	1.000000	0.80357	0.250000	0.25880	9.056000	0.93881	2.367000	0.80283	0.528000	0.53228	GAA		0.363	BMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077918.3		
KIZ-AS1	101929591	broad.mit.edu	37	20	21143040	21143040	+	RNA	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr20:21143040G>A	ENST00000591761.1	-	0	5142				RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA																							TATTGAAGTTGAGGAAAAAAG	0.448																																						uc002wsb.3																			0											c.(934-936)Gag>Aag		Homo sapiens polo-like kinase 1 substrate 1 (PLK1S1), transcript variant 1, mRNA.							37.0	39.0	38.0					20																	21143040		1860	4098	5958			55857				spindle organization	centrosome	protein kinase binding	g.chr20:21143040G>A																													20.37:g.21143040G>A						PLK1S1_uc010zsh.2_Missense_Mutation_p.E209K|PLK1S1_uc010zsi.2_Missense_Mutation_p.E179K|PLK1S1_uc010zsj.2_Non-coding_Transcript|BC042893_uc002wsc.3_Intron|PLK1S1_uc002wsd.3_Non-coding_Transcript	p.E312K	NM_018474	NP_060944	Q2M2Z5	KIZ_HUMAN			4	1067	+			312						Missense_Mutation	SNP	ENST00000591761.1	37	c.934G>A																																																																																					0.448	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2		
RYBP	23429	broad.mit.edu	37	3	72427619	72427619	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr3:72427619C>T	ENST00000477973.2	-	4	868	c.869G>A	c.(868-870)gGg>gAg	p.G290E		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	0					apoptotic process (GO:0006915)|histone H2A monoubiquitination (GO:0035518)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		CTCTCTGACCCCGAGCTGCTC	0.512																																						uc003dpe.3																			0				prostate(1)|upper_aerodigestive_tract(1)	2						c.(574-576)Ggg>Agg		Homo sapiens RING1 and YY1 binding protein (RYBP), mRNA.							94.0	97.0	96.0					3																	72427619		2134	4247	6381	SO:0001583	missense	23429				apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr3:72427619C>T	AF179286		3p14.2	2008-07-18			ENSG00000163602	ENSG00000163602			10480	protein-coding gene	gene with protein product	"""YY1 and E4TF1 associated factor 1"", ""ring1 interactor RYBP"", ""apoptin-associating protein 1"", ""death effector domain-associated factor"""	607535				10369680	Standard	NM_012234		Approved	YEAF1, AAP1, DEDAF	uc003dpe.3	Q8N488	OTTHUMG00000159190	ENST00000477973.2:c.869G>A	3.37:g.72427619C>T	ENSP00000419494:p.Gly290Glu						p.G192R	NM_012234	NP_036366	Q8N488	RYBP_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)	3	574	-		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)	202			Interaction with E4TF1B.|Ser-rich.		Q9P2W5|Q9UMW4	Missense_Mutation	SNP	ENST00000477973.2	37	c.574G>A		.	.	.	.	.	.	.	.	.	.	C	19.48	3.835010	0.71373	.	.	ENSG00000163602	ENST00000477973	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.69459	0.3113	L	0.44542	1.39	.	.	.	.	.	.	.	.	.	T	0.62234	-0.6897	5	.	.	.	-23.5316	20.5632	0.99335	0.0:1.0:0.0:0.0	.	.	.	.	E	290	.	.	G	-	2	0	RYBP	72510309	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	4.928000	0.63447	2.937000	0.99478	0.650000	0.86243	GGG		0.512	RYBP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353762.3	NM_012234	
NUDT16	131870	broad.mit.edu	37	3	131101062	131101062	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr3:131101062C>T	ENST00000521288.1	+	2	342	c.311C>T	c.(310-312)cCa>cTa	p.P104L	RP11-933H2.4_ENST00000502521.1_RNA|NUDT16_ENST00000502852.1_Missense_Mutation_p.P104L|NUDT16_ENST00000537561.1_Missense_Mutation_p.P58L|NUDT16_ENST00000359850.3_Missense_Mutation_p.P71L			Q96DE0	NUD16_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16	104	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				adenosine to inosine editing (GO:0006382)|dephosphorylation (GO:0016311)|dITP catabolic process (GO:0035863)|IDP catabolic process (GO:0046709)|mRNA catabolic process (GO:0006402)|negative regulation of rRNA processing (GO:2000233)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|snoRNA catabolic process (GO:0016077)|XDP catabolic process (GO:1901639)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cobalt ion binding (GO:0050897)|dIDP diphosphatase activity (GO:0097383)|dITP diphosphatase activity (GO:0035870)|GTP binding (GO:0005525)|inosine-diphosphatase activity (GO:0090450)|ITP binding (GO:1901641)|m7G(5')pppN diphosphatase activity (GO:0050072)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)|mRNA binding (GO:0003729)|nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|protein homodimerization activity (GO:0042803)|snoRNA binding (GO:0030515)|XTP binding (GO:1901640)			large_intestine(1)|lung(6)	7						GGGTCAGGGCCACGCGTTGTG	0.692																																						uc003eog.2																			0				large_intestine(1)|lung(6)	7						c.(310-312)cCa>cTa		Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 16 (NUDT16), transcript variant 2, mRNA.							24.0	28.0	27.0					3																	131101062		2200	4298	6498	SO:0001583	missense	131870					nucleolus|nucleoplasm	hydrolase activity|metal ion binding|RNA binding	g.chr3:131101062C>T	AK055827	CCDS3070.1, CCDS3070.2, CCDS54640.1, CCDS54641.1	3q21.3	2005-01-25						"""Nudix motif containing"""	26442	protein-coding gene	gene with protein product						12477932	Standard	NM_152395		Approved	FLJ31265	uc021xec.1	Q96DE0		ENST00000521288.1:c.311C>T	3.37:g.131101062C>T	ENSP00000429274:p.Pro104Leu					LOC339874_uc003eoc.2_5'Flank|NUDT16_uc021xeb.1_Missense_Mutation_p.P58L|NUDT16_uc021xec.1_Missense_Mutation_p.P104L|NUDT16_uc011bln.2_Missense_Mutation_p.P58L	p.P104L	NM_152395	NP_689608	Q96DE0	NUD16_HUMAN			1	351	+			104			Nudix hydrolase.		B4E3B4|E9PED4|F5GYJ1|Q96N82	Missense_Mutation	SNP	ENST00000521288.1	37	c.311C>T	CCDS3070.2	.	.	.	.	.	.	.	.	.	.	C	12.03	1.815890	0.32145	.	.	ENSG00000198585	ENST00000537561;ENST00000359850;ENST00000521288;ENST00000502852	T;T;T;T	0.08634	3.07;3.07;3.07;3.07	3.72	-5.57	0.02521	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.540052	0.17590	N	0.168790	T	0.06917	0.0176	M	0.63208	1.945	0.25540	N	0.987189	B;B	0.23990	0.002;0.095	B;B	0.22152	0.003;0.038	T	0.18493	-1.0335	10	0.72032	D	0.01	-13.9947	3.4995	0.07668	0.4633:0.2285:0.2281:0.08	.	104;71	Q96DE0;B4E3B4	NUD16_HUMAN;.	L	58;71;104;104	ENSP00000440230:P58L;ENSP00000352911:P71L;ENSP00000429274:P104L;ENSP00000422375:P104L	ENSP00000352911:P71L	P	+	2	0	NUDT16	132583752	0.000000	0.05858	0.007000	0.13788	0.539000	0.34962	-0.463000	0.06696	-1.519000	0.01775	-0.324000	0.08512	CCA		0.692	NUDT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356537.9	NM_152395	
SPSB4	92369	broad.mit.edu	37	3	140866045	140866045	+	Silent	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr3:140866045G>A	ENST00000310546.2	+	3	1500	c.756G>A	c.(754-756)caG>caA	p.Q252Q	SPSB4_ENST00000507895.1_3'UTR	NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	252	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						TGGGCCGCCAGCGCCTGCAGG	0.617																																						uc003ett.3																			0				biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						c.(754-756)caG>caA		Homo sapiens splA/ryanodine receptor domain and SOCS box containing 4 (SPSB4), mRNA.							53.0	53.0	53.0					3																	140866045		2203	4300	6503	SO:0001819	synonymous_variant	92369				intracellular signal transduction	cytoplasm	protein binding	g.chr3:140866045G>A		CCDS3115.1	3q23	2008-02-05			ENSG00000175093	ENSG00000175093			30630	protein-coding gene	gene with protein product		611660				12076535	Standard	NM_080862		Approved	SSB-4	uc003ett.3	Q96A44	OTTHUMG00000160223	ENST00000310546.2:c.756G>A	3.37:g.140866045G>A						SPSB4_uc010hum.3_3'UTR	p.Q252Q	NM_080862	NP_543138	Q96A44	SPSB4_HUMAN			2	1001	+			252			SOCS box.			Silent	SNP	ENST00000310546.2	37	c.756G>A	CCDS3115.1																																																																																				0.617	SPSB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359727.1	NM_080862	
DRD5	1816	broad.mit.edu	37	4	9783859	9783859	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr4:9783859G>A	ENST00000304374.2	+	1	602	c.206G>A	c.(205-207)cGc>cAc	p.R69H		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	69					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GTGCGGAGCCGCCACCTGCGC	0.647																																						uc003gmb.4																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(205-207)cGc>cAc		Homo sapiens dopamine receptor D5 (DRD5), mRNA.	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						36.0	29.0	31.0					4																	9783859		2203	4300	6503	SO:0001583	missense	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9783859G>A	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.206G>A	4.37:g.9783859G>A	ENSP00000306129:p.Arg69His						p.R69H	NM_000798	NP_000789	P21918	DRD5_HUMAN			0	602	+			69					B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.206G>A	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	g	18.86	3.713542	0.68730	.	.	ENSG00000169676	ENST00000304374	T	0.41065	1.01	4.01	3.14	0.36123	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.67277	0.2876	M	0.90814	3.15	0.50171	D	0.999855	D	0.89917	1.0	D	0.67231	0.95	T	0.74402	-0.3677	10	0.87932	D	0	.	12.5228	0.56069	0.0:0.1693:0.8307:0.0	.	69	P21918	DRD5_HUMAN	H	69	ENSP00000306129:R69H	ENSP00000306129:R69H	R	+	2	0	DRD5	9392957	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	6.124000	0.71620	0.861000	0.35504	0.305000	0.20034	CGC		0.647	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1		
FGFBP1	9982	broad.mit.edu	37	4	15938124	15938124	+	Silent	SNP	G	G	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr4:15938124G>T	ENST00000382333.1	-	3	426	c.132C>A	c.(130-132)ggC>ggA	p.G44G	FGFBP1_ENST00000259988.2_Silent_p.G44G	NM_005130.4	NP_005121.1	Q14512	FGFP1_HUMAN	fibroblast growth factor binding protein 1	44					cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						TCTGGGTGTTGCCCAGAGTGT	0.517																																						uc003gom.3																			0				NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						c.(130-132)ggC>ggA		Homo sapiens fibroblast growth factor binding protein 1 (FGFBP1), mRNA.							117.0	115.0	116.0					4																	15938124		2203	4300	6503	SO:0001819	synonymous_variant	9982				cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding	g.chr4:15938124G>T	M60047	CCDS3418.1	4p15.32	2008-02-05			ENSG00000137440	ENSG00000137440			19695	protein-coding gene	gene with protein product		607737				11148217, 1885605	Standard	NM_005130		Approved	HBP17, FGFBP	uc003gom.3	Q14512	OTTHUMG00000097745	ENST00000382333.1:c.132C>A	4.37:g.15938124G>T						FGFBP1_uc021xml.1_Silent_p.G44G	p.G44G	NM_005130	NP_005121	Q14512	FGFP1_HUMAN			2	427	-			44					A8K5J2	Silent	SNP	ENST00000382333.1	37	c.132C>A	CCDS3418.1																																																																																				0.517	FGFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214974.1	NM_005130	
RFC1	5981	broad.mit.edu	37	4	39306546	39306546	+	Missense_Mutation	SNP	C	C	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr4:39306546C>A	ENST00000381897.1	-	15	2134	c.2001G>T	c.(1999-2001)gaG>gaT	p.E667D	RFC1_ENST00000349703.2_Missense_Mutation_p.E666D	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	667					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TGTATCCCAACTCCTAATCAA	0.433																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	uc003gty.2																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1999-2001)gaG>gaT		Homo sapiens replication factor C (activator 1) 1, 145kDa (RFC1), transcript variant 2, mRNA.							182.0	187.0	185.0					4																	39306546		2203	4300	6503	SO:0001583	missense	5981				DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	g.chr4:39306546C>A	L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.2001G>T	4.37:g.39306546C>A	ENSP00000371321:p.Glu667Asp					RFC1_uc003gtx.2_Missense_Mutation_p.E666D	p.E667D	NM_001204747	NP_001191676	P35251	RFC1_HUMAN			14	2141	-			667					A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	ENST00000381897.1	37	c.2001G>T	CCDS56329.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.361965	0.61403	.	.	ENSG00000035928	ENST00000381897;ENST00000349703;ENST00000504554	D;D;T	0.94138	-3.36;-3.36;0.7	5.2	1.47	0.22746	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.94621	0.8266	M	0.67625	2.065	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.91414	0.5153	10	0.31617	T	0.26	-25.3945	8.1273	0.31005	0.0:0.3035:0.0:0.6965	.	667;666	P35251;P35251-2	RFC1_HUMAN;.	D	667;666;129	ENSP00000371321:E667D;ENSP00000261424:E666D;ENSP00000422129:E129D	ENSP00000261424:E666D	E	-	3	2	RFC1	38982941	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	0.937000	0.28951	0.309000	0.22966	-1.300000	0.01332	GAG		0.433	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913	
LIMCH1	22998	broad.mit.edu	37	4	41621353	41621353	+	Silent	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr4:41621353G>A	ENST00000313860.7	+	8	885	c.831G>A	c.(829-831)acG>acA	p.T277T	LIMCH1_ENST00000511496.1_Silent_p.T118T|LIMCH1_ENST00000514096.1_Silent_p.T130T|LIMCH1_ENST00000508501.1_Silent_p.T277T|LIMCH1_ENST00000512632.1_Silent_p.T277T|LIMCH1_ENST00000509638.1_Silent_p.T118T|LIMCH1_ENST00000513024.1_Silent_p.T118T|LIMCH1_ENST00000512820.1_Silent_p.T277T|LIMCH1_ENST00000512946.1_Silent_p.T277T|LIMCH1_ENST00000396595.3_Silent_p.T123T|LIMCH1_ENST00000509277.1_Silent_p.T123T|LIMCH1_ENST00000381753.4_Silent_p.T123T|LIMCH1_ENST00000509454.1_Silent_p.T125T|LIMCH1_ENST00000503057.1_Silent_p.T118T	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	277					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GCAATCAGACGGCCTACGTCC	0.567																																						uc003gvz.4																			0				central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						c.(352-354)acG>acA		Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.							96.0	97.0	97.0					4																	41621353		2203	4300	6503	SO:0001819	synonymous_variant	22998				actomyosin structure organization		actin binding|zinc ion binding	g.chr4:41621353G>A	AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.831G>A	4.37:g.41621353G>A						LIMCH1_uc003gvt.1_Silent_p.T118T|LIMCH1_uc003gwe.4_Silent_p.T277T|LIMCH1_uc003gvu.4_Silent_p.T277T|LIMCH1_uc003gvv.4_Silent_p.T277T|LIMCH1_uc003gvw.4_Silent_p.T277T|LIMCH1_uc003gvx.4_Silent_p.T277T|LIMCH1_uc003gvy.4_Silent_p.T118T|LIMCH1_uc003gwa.4_Silent_p.T118T|LIMCH1_uc011byu.2_Silent_p.T123T|LIMCH1_uc003gwc.4_Silent_p.T123T|LIMCH1_uc003gwd.4_Silent_p.T123T|LIMCH1_uc011byv.2_Silent_p.T28T|LIMCH1_uc003gwb.1_Silent_p.T125T	p.T118T	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN			5	771	+			277			CH.		A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Silent	SNP	ENST00000313860.7	37	c.354G>A	CCDS33977.1	.	.	.	.	.	.	.	.	.	.	G	5.390	0.257112	0.10239	.	.	ENSG00000064042	ENST00000508466	.	.	.	5.74	-9.13	0.00704	.	.	.	.	.	T	0.43033	0.1229	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49103	-0.8974	4	.	.	.	-16.3876	5.4401	0.16504	0.5952:0.136:0.1549:0.1139	.	.	.	.	Q	112	.	.	R	+	2	0	LIMCH1	41316110	0.000000	0.05858	0.354000	0.25760	0.519000	0.34347	-2.109000	0.01335	-1.604000	0.01595	-0.993000	0.02533	CGG		0.567	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988	
UGT2B11	10720	broad.mit.edu	37	4	70080048	70080048	+	Silent	SNP	A	A	C			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr4:70080048A>C	ENST00000446444.1	-	1	401	c.393T>G	c.(391-393)gtT>gtG	p.V131V	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	131					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TCTTATTTGAAACTACATCTT	0.343																																						uc003heh.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(391-393)gtT>gtG		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.							50.0	56.0	54.0					4																	70080048		2202	4297	6499	SO:0001819	synonymous_variant	10720				estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70080048A>C	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.393T>G	4.37:g.70080048A>C						AK124272_uc003hei.1_Intron	p.V131V	NM_001073	NP_001064	O75310	UDB11_HUMAN			0	402	-			131					Q3KNV9	Silent	SNP	ENST00000446444.1	37	c.393T>G	CCDS3527.1																																																																																				0.343	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073	
FRAS1	80144	broad.mit.edu	37	4	79295398	79295398	+	Missense_Mutation	SNP	A	A	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr4:79295398A>T	ENST00000325942.6	+	25	3584	c.3144A>T	c.(3142-3144)aaA>aaT	p.K1048N	FRAS1_ENST00000264895.6_Missense_Mutation_p.K1048N	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1048					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CAAAGCACAAATGCACAGGTA	0.473																																						uc003hlb.2																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(3142-3144)aaA>aaT		Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.							113.0	114.0	114.0					4																	79295398		1946	4149	6095	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79295398A>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.3144A>T	4.37:g.79295398A>T	ENSP00000326330:p.Lys1048Asn					FRAS1_uc003hkw.3_Missense_Mutation_p.K1048N	p.K1048N	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			24	3584	+			1047					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.3144A>T	CCDS54772.1	.	.	.	.	.	.	.	.	.	.	A	12.41	1.928988	0.34002	.	.	ENSG00000138759	ENST00000325942;ENST00000264895	T;T	0.76186	-1.0;-1.0	5.94	-1.09	0.09904	.	0.882441	0.10209	N	0.702386	T	0.56543	0.1992	N	0.21373	0.66	0.58432	D	0.999996	B;B	0.30326	0.276;0.03	B;B	0.32211	0.142;0.009	T	0.46527	-0.9185	10	0.49607	T	0.09	.	4.9481	0.14000	0.4951:0.2731:0.2318:0.0	.	1048;1048	E9PHH6;A2RRR8	.;.	N	1048	ENSP00000326330:K1048N;ENSP00000264895:K1048N	ENSP00000264895:K1048N	K	+	3	2	FRAS1	79514422	0.398000	0.25279	0.093000	0.20910	0.014000	0.08584	0.648000	0.24828	-0.073000	0.12842	-0.321000	0.08615	AAA		0.473	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2		
NDST4	64579	broad.mit.edu	37	4	115767016	115767016	+	Missense_Mutation	SNP	A	A	G			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr4:115767016A>G	ENST00000264363.2	-	10	2756	c.2078T>C	c.(2077-2079)cTc>cCc	p.L693P		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	693	Heparan sulfate N-sulfotransferase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GGGGTCAATGAGGATGGTGAT	0.428																																						uc003ibu.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(2077-2079)cTc>cCc		Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.							135.0	126.0	129.0					4																	115767016		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115767016A>G	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.2078T>C	4.37:g.115767016A>G	ENSP00000264363:p.Leu693Pro					NDST4_uc010imw.3_Non-coding_Transcript	p.L693P	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	9	2757	-		Ovarian(17;0.156)	693			Heparan sulfate N-sulfotransferase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.2078T>C	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.428811	0.83667	.	.	ENSG00000138653	ENST00000264363	T	0.61980	0.06	5.61	5.61	0.85477	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.84831	0.5559	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89260	0.3597	10	0.87932	D	0	.	15.8104	0.78557	1.0:0.0:0.0:0.0	.	693	Q9H3R1	NDST4_HUMAN	P	693	ENSP00000264363:L693P	ENSP00000264363:L693P	L	-	2	0	NDST4	115986465	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.851000	0.92205	2.125000	0.65367	0.533000	0.62120	CTC		0.428	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569	
TENM3	55714	broad.mit.edu	37	4	183658027	183658027	+	Missense_Mutation	SNP	G	G	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr4:183658027G>T	ENST00000511685.1	+	17	3157	c.3034G>T	c.(3034-3036)Gca>Tca	p.A1012S	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.A1012S			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1012					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TTCCAGAGCTGCAGGGTATAA	0.388																																						uc003ivd.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129						c.(3034-3036)Gca>Tca		Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.							99.0	91.0	94.0					4																	183658027		1853	4102	5955	SO:0001583	missense	55714				signal transduction	integral to membrane		g.chr4:183658027G>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.3034G>T	4.37:g.183658027G>T	ENSP00000424226:p.Ala1012Ser					ODZ3_uc003ive.1_Missense_Mutation_p.A418S	p.A1012S	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	15	3109	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	1012					Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.3034G>T	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378676	0.61735	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.86627	-2.15;-2.15	4.92	4.92	0.64577	.	.	.	.	.	T	0.80248	0.4588	N	0.13043	0.29	0.54753	D	0.999989	P	0.51791	0.948	P	0.45610	0.487	T	0.78229	-0.2285	9	0.17369	T	0.5	.	18.3059	0.90180	0.0:0.0:1.0:0.0	.	1012	Q9P273	TEN3_HUMAN	S	1012	ENSP00000424226:A1012S;ENSP00000385276:A1012S	ENSP00000385276:A1012S	A	+	1	0	ODZ3	183895021	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.626000	0.83164	2.553000	0.86117	0.655000	0.94253	GCA		0.388	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1		
TRIML1	339976	broad.mit.edu	37	4	189063477	189063477	+	Missense_Mutation	SNP	G	G	C			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr4:189063477G>C	ENST00000332517.3	+	3	716	c.576G>C	c.(574-576)gaG>gaC	p.E192D	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	192					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TGAAGGAAGAGGAGCAGCTGC	0.438																																					Melanoma(31;213 1036 16579 23968 32372)	uc003izm.1																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60						c.(574-576)gaG>gaC		Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.							94.0	91.0	92.0					4																	189063477		2203	4300	6503	SO:0001583	missense	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189063477G>C	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.576G>C	4.37:g.189063477G>C	ENSP00000327738:p.Glu192Asp					TRIML1_uc003izn.1_5'Flank	p.E192D	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	2	691	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	192					Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.576G>C	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001075	0.54254	.	.	ENSG00000184108	ENST00000332517	T	0.08984	3.03	4.85	2.2	0.27929	.	0.000000	0.47852	D	0.000204	T	0.21761	0.0524	M	0.92833	3.35	0.29629	N	0.845563	D	0.56521	0.976	P	0.49332	0.607	T	0.22173	-1.0224	10	0.87932	D	0	-29.7546	8.3808	0.32470	0.2681:0.0:0.7319:0.0	.	192	Q8N9V2	TRIML_HUMAN	D	192	ENSP00000327738:E192D	ENSP00000327738:E192D	E	+	3	2	TRIML1	189300471	1.000000	0.71417	0.996000	0.52242	0.755000	0.42902	0.795000	0.26972	0.773000	0.33404	-0.142000	0.14014	GAG		0.438	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556	
G3BP1	10146	broad.mit.edu	37	5	151180343	151180343	+	Missense_Mutation	SNP	G	G	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr5:151180343G>T	ENST00000394123.3	+	11	1252	c.1107G>T	c.(1105-1107)ttG>ttT	p.L369F	G3BP1_ENST00000543466.1_Missense_Mutation_p.L187F|G3BP1_ENST00000356245.3_Missense_Mutation_p.L369F			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	369	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Ras protein signal transduction (GO:0007265)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			TGGTGGAGTTGCGCATTAACA	0.388																																						uc003lun.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29						c.(1105-1107)ttG>ttT		Homo sapiens GTPase activating protein (SH3 domain) binding protein 1 (G3BP1), transcript variant 1, mRNA.							325.0	295.0	305.0					5																	151180343		2203	4300	6503	SO:0001583	missense	10146				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding	g.chr5:151180343G>T	BC006997	CCDS4319.1	5q33.1	2013-02-12	2006-11-01		ENSG00000145907	ENSG00000145907		"""RNA binding motif (RRM) containing"""	30292	protein-coding gene	gene with protein product	"""Ras-GTPase-activating protein SH3-domain-binding protein"""	608431				8649363, 9889278	Standard	NM_005754		Approved	HDH-VIII, G3BP	uc003lum.3	Q13283	OTTHUMG00000130123	ENST00000394123.3:c.1107G>T	5.37:g.151180343G>T	ENSP00000377681:p.Leu369Phe					G3BP1_uc003lum.3_Missense_Mutation_p.L369F|G3BP1_uc011dcu.2_Missense_Mutation_p.L187F|G3BP1_uc010jhz.3_Missense_Mutation_p.L187F|G3BP1_uc003luq.3_Missense_Mutation_p.L37F	p.L369F	NM_005754	NP_938405	Q13283	G3BP1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		10	1278	+		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	369			RRM.		Q5HYE9	Missense_Mutation	SNP	ENST00000394123.3	37	c.1107G>T	CCDS4319.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.694074	0.68386	.	.	ENSG00000145907	ENST00000394123;ENST00000543466;ENST00000356245;ENST00000274596	T;T;T	0.16743	2.32;2.32;2.32	5.38	1.1	0.20463	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.21962	0.0529	L	0.45228	1.405	0.51233	D	0.999916	D	0.54772	0.968	P	0.59889	0.865	T	0.04752	-1.0929	10	0.87932	D	0	-19.3328	3.1113	0.06359	0.2099:0.1842:0.4811:0.1247	.	369	Q13283	G3BP1_HUMAN	F	369;187;369;211	ENSP00000377681:L369F;ENSP00000445035:L187F;ENSP00000348578:L369F	ENSP00000274596:L211F	L	+	3	2	G3BP1	151160536	0.999000	0.42202	1.000000	0.80357	0.945000	0.59286	0.448000	0.21726	0.257000	0.21650	-0.150000	0.13652	TTG		0.388	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252431.1	NM_005754	
GRIA1	2890	broad.mit.edu	37	5	153030021	153030021	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr5:153030021C>T	ENST00000285900.5	+	4	935	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W	GRIA1_ENST00000518783.1_Missense_Mutation_p.R208W|GRIA1_ENST00000340592.5_Missense_Mutation_p.R198W|GRIA1_ENST00000518142.1_Missense_Mutation_p.R118W|GRIA1_ENST00000521843.2_Missense_Mutation_p.R129W|GRIA1_ENST00000448073.4_Missense_Mutation_p.R208W|GRIA1_ENST00000518862.1_3'UTR	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	198					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	GAAAAAGGAGCGGCTGGTGGT	0.542																																						uc011dcy.2																			0		p.R208C(2)|p.R208R(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(622-624)Cgg>Tgg		Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						108.0	103.0	105.0					5																	153030021		2203	4300	6503	SO:0001583	missense	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153030021C>T		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.592C>T	5.37:g.153030021C>T	ENSP00000285900:p.Arg198Trp					GRIA1_uc003lva.4_Missense_Mutation_p.R198W|GRIA1_uc003luy.4_Missense_Mutation_p.R198W|GRIA1_uc003luz.4_Missense_Mutation_p.R103W|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.R118W|GRIA1_uc011dcx.2_Missense_Mutation_p.R129W|GRIA1_uc011dcz.2_Missense_Mutation_p.R208W|GRIA1_uc010jia.1_Missense_Mutation_p.R178W	p.R208W	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		3	649	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	198					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.622C>T	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.003695	0.54254	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38;1.38	5.33	-1.32	0.09201	Extracellular ligand-binding receptor (1);	0.055015	0.64402	D	0.000001	T	0.42877	0.1222	L	0.39898	1.24	0.45662	D	0.998588	D;D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;0.999;1.0	P;P;D;P;P;D	0.67103	0.901;0.901;0.949;0.901;0.841;0.949	T	0.07654	-1.0761	10	0.37606	T	0.19	.	11.2657	0.49110	0.6337:0.3015:0.0:0.0648	.	208;208;118;208;198;198	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	W	198;198;118;152;198;129;129;208;208	ENSP00000285900:R198W;ENSP00000427920:R118W;ENSP00000339343:R198W;ENSP00000427864:R129W;ENSP00000442108:R129W;ENSP00000428994:R208W;ENSP00000415569:R208W	ENSP00000285900:R198W	R	+	1	2	GRIA1	153010214	0.634000	0.27190	0.814000	0.32528	0.577000	0.36160	-0.178000	0.09782	-0.654000	0.05394	-0.142000	0.14014	CGG		0.542	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3		
CCNG1	900	broad.mit.edu	37	5	162869506	162869506	+	Missense_Mutation	SNP	C	C	T	rs201575982		TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr5:162869506C>T	ENST00000340828.2	+	6	1047	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	AC112205.1_ENST00000599797.1_Intron|CCNG1_ENST00000511683.2_Missense_Mutation_p.R141W|CCNG1_ENST00000512163.1_Missense_Mutation_p.R141W|CCNG1_ENST00000504553.1_Intron|CCNG1_ENST00000510664.1_Missense_Mutation_p.R147W|CCNG1_ENST00000393929.1_Missense_Mutation_p.R275W	NM_004060.3	NP_004051.1	P51959	CCNG1_HUMAN	cyclin G1	275				RQLKHSYYRITHLPTIPEMVP -> LKWSLNWIITAPKNFS EAFLHNLVLWIP (in Ref. 4; AAB03903). {ECO:0000305}.	brain development (GO:0007420)|cell growth (GO:0016049)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to organonitrogen compound (GO:0010243)|syncytium formation (GO:0006949)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)		GCGTACTGCACGGCAATTGAA	0.378													C|||	1	0.000199681	0.0	0.0	5008	,	,		19208	0.001		0.0	False		,,,				2504	0.0					uc003lzb.3																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12						c.(823-825)Cgg>Tgg		Homo sapiens cyclin G1 (CCNG1), transcript variant 2, mRNA.							144.0	141.0	142.0					5																	162869506		2203	4300	6503	SO:0001583	missense	900				cell division|mitosis|regulation of cyclin-dependent protein kinase activity	nucleus		g.chr5:162869506C>T	D78341	CCDS4360.1	5q32-q34	2010-11-15			ENSG00000113328	ENSG00000113328			1592	protein-coding gene	gene with protein product		601578		CCNG		8954786, 8806701	Standard	NM_004060		Approved		uc003lzb.3	P51959	OTTHUMG00000130380	ENST00000340828.2:c.823C>T	5.37:g.162869506C>T	ENSP00000344635:p.Arg275Trp					CCNG1_uc011dek.1_Missense_Mutation_p.R139W|CCNG1_uc011del.2_Missense_Mutation_p.R139W|CCNG1_uc003lzc.3_Non-coding_Transcript	p.R275W	NM_199246	NP_954854	P51959	CCNG1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)	5	1057	+	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	275	RQLKHSYYRITHLPTIPEMVP -> LKWSLNWIITAPKNFS EAFLHNLVLWIP (in Ref. 4; AAB03903).				B2R7B2|B4DLW7|D3DQK7|Q15757|Q96L32	Missense_Mutation	SNP	ENST00000340828.2	37	c.823C>T	CCDS4360.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.25	2.179900	0.38511	.	.	ENSG00000113328	ENST00000512163;ENST00000393929;ENST00000340828;ENST00000511683;ENST00000510664	T;T;T;T;T	0.38401	1.14;2.28;2.28;1.14;1.5	5.79	3.99	0.46301	.	0.000000	0.85682	D	0.000000	T	0.35682	0.0940	L	0.59436	1.845	0.80722	D	1	B	0.26041	0.14	B	0.14023	0.01	T	0.19745	-1.0296	10	0.87932	D	0	-1.0215	14.3251	0.66515	0.5074:0.4926:0.0:0.0	.	275	P51959	CCNG1_HUMAN	W	141;275;275;141;147	ENSP00000424315:R141W;ENSP00000377506:R275W;ENSP00000344635:R275W;ENSP00000424141:R141W;ENSP00000422379:R147W	ENSP00000344635:R275W	R	+	1	2	CCNG1	162802084	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.460000	0.35244	0.762000	0.33152	0.655000	0.94253	CGG		0.378	CCNG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252750.3	NM_004060	
PPP1R11	6992	broad.mit.edu	37	6	30035220	30035220	+	Silent	SNP	C	C	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr6:30035220C>A	ENST00000376772.3	+	1	356	c.33C>A	c.(31-33)acC>acA	p.T11T	PPP1R11_ENST00000376773.1_Intron|PPP1R11_ENST00000376763.1_5'Flank|PPP1R11_ENST00000376758.1_5'Flank|PPP1R11_ENST00000376769.2_5'UTR|PPP1R11_ENST00000376765.2_5'Flank	NM_021959.2	NP_068778.1	O60927	PP1RB_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 11	11						cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)			lung(2)|ovary(1)|prostate(1)|skin(2)	6						TGAGCGAGACCGTCACTGAGA	0.632																																					Pancreas(185;1767 3918 43793)	uc003npb.3																			0				lung(2)|ovary(1)|prostate(1)|skin(2)	6						c.(31-33)acC>acA		Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 11 (PPP1R11), mRNA.							58.0	56.0	57.0					6																	30035220		2203	4300	6503	SO:0001819	synonymous_variant	6992					soluble fraction	protein binding|protein phosphatase inhibitor activity	g.chr6:30035220C>A	X81003	CCDS4671.1	6p21.3	2012-04-17			ENSG00000204619	ENSG00000204619		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9285	protein-coding gene	gene with protein product		606670		TCTE5		9843442, 8781118	Standard	NM_021959		Approved	HCGV, Tctex5, HCG-V	uc003npb.3	O60927	OTTHUMG00000031260	ENST00000376772.3:c.33C>A	6.37:g.30035220C>A						PPP1R11_uc010jrw.3_Non-coding_Transcript|PPP1R11_uc003npc.3_Non-coding_Transcript	p.T11T	NM_021959	NP_068778	O60927	PP1RB_HUMAN			0	289	+			11						Silent	SNP	ENST00000376772.3	37	c.33C>A	CCDS4671.1																																																																																				0.632	PPP1R11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076557.3	NM_021959	
ENPP4	22875	broad.mit.edu	37	6	46107333	46107333	+	Missense_Mutation	SNP	G	G	C			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr6:46107333G>C	ENST00000321037.4	+	2	243	c.13G>C	c.(13-15)Gta>Cta	p.V5L		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	5					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						GAAGTTATTAGTAATACTTTT	0.343																																						uc003oxy.3																			0		p.L4L(1)		central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						c.(13-15)Gta>Cta		Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA.							50.0	51.0	50.0					6																	46107333		2201	4292	6493	SO:0001583	missense	22875					integral to membrane	hydrolase activity	g.chr6:46107333G>C	AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.13G>C	6.37:g.46107333G>C	ENSP00000318066:p.Val5Leu						p.V5L	NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN			1	272	+			5					A8K5G1|Q7L2N1	Missense_Mutation	SNP	ENST00000321037.4	37	c.13G>C	CCDS34468.1	.	.	.	.	.	.	.	.	.	.	G	7.685	0.689788	0.14973	.	.	ENSG00000001561	ENST00000321037;ENST00000371401	T	0.72394	-0.65	5.96	-1.21	0.09524	.	3.769140	0.00508	N	0.000166	T	0.13713	0.0332	N	0.03253	-0.375	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21827	-1.0234	10	0.02654	T	1	-0.0398	0.1486	0.00090	0.2472:0.204:0.2044:0.3444	.	5	Q9Y6X5	ENPP4_HUMAN	L	5	ENSP00000318066:V5L	ENSP00000318066:V5L	V	+	1	0	ENPP4	46215292	0.000000	0.05858	0.000000	0.03702	0.991000	0.79684	-0.247000	0.08866	-0.111000	0.12001	0.650000	0.86243	GTA		0.343	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040777.2		
COL9A1	1297	broad.mit.edu	37	6	71004007	71004007	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr6:71004007C>T	ENST00000357250.6	-	5	717	c.559G>A	c.(559-561)Gtg>Atg	p.V187M	COL9A1_ENST00000370496.3_Missense_Mutation_p.V187M	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	187	Laminin G-like.|Nonhelical region (NC4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)	p.V187L(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CTCCTCTCCACGCCAATCATG	0.433																																						uc003pfg.4																			1	Substitution - Missense(1)	p.V187L(2)	lung(1)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						c.(559-561)Gtg>Atg		Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.							135.0	131.0	132.0					6																	71004007		2203	4300	6503	SO:0001583	missense	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:71004007C>T		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.559G>A	6.37:g.71004007C>T	ENSP00000349790:p.Val187Met						p.V187M	NM_001851	NP_001842	P20849	CO9A1_HUMAN			4	718	-			187			Nonhelical region (NC4).|TSP N-terminal.		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	c.559G>A	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803883	0.70682	.	.	ENSG00000112280	ENST00000357250;ENST00000370496	T;T	0.03242	4.0;4.0	5.77	5.77	0.91146	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.15522	0.0374	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.00110	-1.2048	10	0.87932	D	0	.	14.5133	0.67802	0.0:0.9299:0.0:0.0701	.	187	P20849	CO9A1_HUMAN	M	187	ENSP00000349790:V187M;ENSP00000359527:V187M	ENSP00000349790:V187M	V	-	1	0	COL9A1	71060728	0.997000	0.39634	0.996000	0.52242	0.863000	0.49368	3.594000	0.54008	2.890000	0.99128	0.650000	0.86243	GTG		0.433	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2		
TTK	7272	broad.mit.edu	37	6	80741263	80741263	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr6:80741263G>A	ENST00000369798.2	+	14	1712	c.1601G>A	c.(1600-1602)gGa>gAa	p.G534E	TTK_ENST00000230510.3_Missense_Mutation_p.G533E|TTK_ENST00000509894.1_Missense_Mutation_p.G533E	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	534	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		ATAGGAAGTGGAGGTTCAAGC	0.279																																						uc003pjc.3																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(1600-1602)gGa>gAa		Homo sapiens TTK protein kinase (TTK), transcript variant 1, mRNA.							50.0	52.0	51.0					6																	80741263		2198	4296	6494	SO:0001583	missense	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80741263G>A		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.1601G>A	6.37:g.80741263G>A	ENSP00000358813:p.Gly534Glu					TTK_uc003pjb.4_Missense_Mutation_p.G533E	p.G534E	NM_003318	NP_003309	P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	13	1712	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	534			Protein kinase.		A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	37	c.1601G>A	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.472545	0.84640	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	D;D;D	0.96334	-3.98;-3.98;-3.98	5.54	5.54	0.83059	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.049413	0.85682	D	0.000000	D	0.98940	0.9640	H	0.98048	4.135	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.69479	0.964;0.954	D	0.99537	1.0962	10	0.87932	D	0	.	18.4594	0.90734	0.0:0.0:1.0:0.0	.	534;533	P33981;A8K8U5	TTK_HUMAN;.	E	533;533;534	ENSP00000422936:G533E;ENSP00000230510:G533E;ENSP00000358813:G534E	ENSP00000230510:G533E	G	+	2	0	TTK	80797982	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.300000	0.96151	2.597000	0.87782	0.561000	0.74099	GGA		0.279	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2		
TMEM181	57583	broad.mit.edu	37	6	159050767	159050767	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr6:159050767G>A	ENST00000367090.3	+	15	1620	c.1609G>A	c.(1609-1611)Gag>Aag	p.E537K		NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	537					pathogenesis (GO:0009405)	integral component of membrane (GO:0016021)	toxic substance binding (GO:0015643)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		ACCACCAGCCGAGTTCTTATC	0.542																																						uc003qrm.4																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22						c.(1609-1611)Gag>Aag		Homo sapiens transmembrane protein 181 (TMEM181), mRNA.							171.0	172.0	172.0					6																	159050767		1974	4156	6130	SO:0001583	missense	57583				pathogenesis	integral to membrane	toxin binding	g.chr6:159050767G>A	AB037844	CCDS43520.1	6q25.3	2012-08-10	2006-10-19	2006-10-19	ENSG00000146433	ENSG00000146433			20958	protein-coding gene	gene with protein product		613209	"""G protein-coupled receptor 178"", ""KIAA1423"""	KIAA1423, GPR178		16452613	Standard	NM_020823		Approved		uc003qrm.4	Q9P2C4	OTTHUMG00000015913	ENST00000367090.3:c.1609G>A	6.37:g.159050767G>A	ENSP00000356057:p.Glu537Lys						p.E537K	NM_020823	NP_065874	Q9P2C4	TM181_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)	14	1620	+		Breast(66;0.000776)|Ovarian(120;0.0303)	537					Q5VTU1	Missense_Mutation	SNP	ENST00000367090.3	37	c.1609G>A	CCDS43520.1	.	.	.	.	.	.	.	.	.	.	G	36	5.659579	0.96734	.	.	ENSG00000146433	ENST00000314630;ENST00000367090	T	0.45668	0.89	6.17	6.17	0.99709	.	0.088877	0.85682	D	0.000000	T	0.49575	0.1565	M	0.74881	2.28	0.80722	D	1	D	0.65815	0.995	P	0.59357	0.856	T	0.44174	-0.9345	10	0.07175	T	0.84	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	537	Q9P2C4	TM181_HUMAN	K	444;537	ENSP00000356057:E537K	ENSP00000323755:E444K	E	+	1	0	TMEM181	158970755	1.000000	0.71417	0.748000	0.31131	0.990000	0.78478	7.844000	0.86867	2.941000	0.99782	0.655000	0.94253	GAG		0.542	TMEM181-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042873.1	NM_020823	
FKBP9	11328	broad.mit.edu	37	7	33044873	33044873	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr7:33044873G>A	ENST00000242209.4	+	10	1792	c.1623G>A	c.(1621-1623)atG>atA	p.M541I	FKBP9_ENST00000538443.1_Missense_Mutation_p.M403I|FKBP9_ENST00000490776.2_Missense_Mutation_p.M309I|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Missense_Mutation_p.M594I	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	541	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			TGAAGAATATGTTCACCAACC	0.493																																						uc011kal.2																			0				central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39						c.(1780-1782)atG>atA		Homo sapiens FK506 binding protein 9, 63 kDa (FKBP9), mRNA.							130.0	100.0	110.0					7																	33044873		2203	4298	6501	SO:0001583	missense	11328				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:33044873G>A	AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"""EF-hand domain containing"""	3725	protein-coding gene	gene with protein product			"""FK506-binding protein 9 (63 kD)"""			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.1623G>A	7.37:g.33044873G>A	ENSP00000242209:p.Met541Ile					AVL9_uc011kai.2_Intron|FKBP9_uc011kak.1_Non-coding_Transcript|FKBP9_uc003tdh.3_Missense_Mutation_p.M541I|FKBP9_uc011kam.2_Missense_Mutation_p.M309I	p.M594I	NM_007270	NP_009201	O95302	FKBP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0156)		10	1963	+			541					B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Missense_Mutation	SNP	ENST00000242209.4	37	c.1782G>A	CCDS5439.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.381425	0.82792	.	.	ENSG00000122642	ENST00000242209;ENST00000538336;ENST00000538443;ENST00000490776	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.07	5.07	0.68467	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.66356	0.2781	M	0.64170	1.965	0.80722	D	1	P;D;D	0.61080	0.828;0.989;0.97	P;D;P	0.68483	0.542;0.958;0.77	T	0.66913	-0.5803	10	0.48119	T	0.1	-19.7043	18.4683	0.90763	0.0:0.0:1.0:0.0	.	309;594;541	B7Z1G9;B7Z6H3;O95302	.;.;FKBP9_HUMAN	I	541;594;403;309	ENSP00000242209:M541I;ENSP00000439250:M594I;ENSP00000437504:M403I;ENSP00000441317:M309I	ENSP00000242209:M541I	M	+	3	0	FKBP9	33011398	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.751000	0.98889	2.371000	0.80710	0.555000	0.69702	ATG		0.493	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270	
STK17A	9263	broad.mit.edu	37	7	43622866	43622866	+	Silent	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr7:43622866C>T	ENST00000319357.5	+	1	203	c.24C>T	c.(22-24)ggC>ggT	p.G8G	STK17A_ENST00000462448.1_Intron	NM_004760.2	NP_004751.2	Q9UEE5	ST17A_HUMAN	serine/threonine kinase 17a	8					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast apoptotic process (GO:2000271)|protein phosphorylation (GO:0006468)|regulation of reactive oxygen species metabolic process (GO:2000377)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						AGAAGCCAGGCAGCGGCGGCT	0.766																																						uc003tih.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						c.(22-24)ggC>ggT		Homo sapiens serine/threonine kinase 17a (STK17A), mRNA.							13.0	16.0	15.0					7																	43622866		2174	4250	6424	SO:0001819	synonymous_variant	9263				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr7:43622866C>T	AB011420	CCDS5470.1	7p13	2008-05-15	2007-02-12		ENSG00000164543	ENSG00000164543			11395	protein-coding gene	gene with protein product	"""death-associated protein kinase-related 1"""	604726	"""serine/threonine kinase 17a (apoptosis-inducing)"""			9786912	Standard	NM_004760		Approved	DRAK1	uc003tih.3	Q9UEE5	OTTHUMG00000022825	ENST00000319357.5:c.24C>T	7.37:g.43622866C>T							p.G8G	NM_004760	NP_004751	Q9UEE5	ST17A_HUMAN			0	175	+			8					A4D1V6|Q8IVC8	Silent	SNP	ENST00000319357.5	37	c.24C>T	CCDS5470.1																																																																																				0.766	STK17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250902.1	NM_004760	
SLC26A5	375611	broad.mit.edu	37	7	103048353	103048353	+	Missense_Mutation	SNP	A	A	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr7:103048353A>T	ENST00000306312.3	-	8	1094	c.833T>A	c.(832-834)tTt>tAt	p.F278Y	SLC26A5_ENST00000393729.1_Missense_Mutation_p.F241Y|SLC26A5_ENST00000393723.1_Missense_Mutation_p.F278Y|SLC26A5_ENST00000432958.2_Missense_Mutation_p.F278Y|SLC26A5_ENST00000339444.6_Missense_Mutation_p.F278Y|SLC26A5_ENST00000393735.2_Missense_Mutation_p.F278Y|SLC26A5_ENST00000393727.1_Missense_Mutation_p.F278Y|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000393730.1_Missense_Mutation_p.F278Y|SLC26A5_ENST00000356767.4_Missense_Mutation_p.F278Y	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	278					regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						TCTCTCATTAAACTCCTTGCC	0.468																																						uc003vbz.3																			0				endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						c.(832-834)tTt>tAt		Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.							96.0	92.0	94.0					7																	103048353		2203	4300	6503	SO:0001583	missense	375611				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	g.chr7:103048353A>T	AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"""Solute carriers"""	9359	protein-coding gene	gene with protein product	"""deafness, neurosensory, autosomal recessive, 61"""	604943	"""prestin (motor protein)"""	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.833T>A	7.37:g.103048353A>T	ENSP00000304783:p.Phe278Tyr					SLC26A5_uc003vbt.2_Missense_Mutation_p.F278Y|SLC26A5_uc003vbu.2_Missense_Mutation_p.F278Y|SLC26A5_uc003vbv.2_Missense_Mutation_p.F278Y|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Missense_Mutation_p.F278Y	p.F278Y	NM_198999	NP_945350	P58743	S26A5_HUMAN			7	1095	-			278					Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Missense_Mutation	SNP	ENST00000306312.3	37	c.833T>A	CCDS5733.1	.	.	.	.	.	.	.	.	.	.	A	32	5.119319	0.94385	.	.	ENSG00000170615	ENST00000339444;ENST00000356767;ENST00000393735;ENST00000306312;ENST00000393730;ENST00000432958;ENST00000393729;ENST00000393727;ENST00000393723	D;D;D;D;D;D;D;D;D	0.93076	-3.16;-3.16;-3.16;-3.16;-3.16;-3.16;-3.16;-3.16;-3.16	5.36	5.36	0.76844	Sulphate transporter (1);	0.118823	0.64402	D	0.000014	D	0.92612	0.7653	L	0.27053	0.805	0.80722	D	1	D;D;D;D;D	0.59767	0.96;0.98;0.976;0.986;0.975	P;P;P;P;P	0.55667	0.745;0.781;0.628;0.674;0.674	D	0.93856	0.7149	10	0.87932	D	0	.	15.6584	0.77162	1.0:0.0:0.0:0.0	.	278;278;278;278;278	P58743;Q496J2;P58743-4;P58743-3;P58743-2	S26A5_HUMAN;.;.;.;.	Y	278;278;278;278;278;278;241;278;278	ENSP00000342396:F278Y;ENSP00000349210:F278Y;ENSP00000377336:F278Y;ENSP00000304783:F278Y;ENSP00000377331:F278Y;ENSP00000389733:F278Y;ENSP00000377330:F241Y;ENSP00000377328:F278Y;ENSP00000377324:F278Y	ENSP00000304783:F278Y	F	-	2	0	SLC26A5	102835589	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.535000	0.90623	2.160000	0.67779	0.528000	0.53228	TTT		0.468	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999	
CFTR	1080	broad.mit.edu	37	7	117306983	117306983	+	Missense_Mutation	SNP	C	C	T	rs373172017		TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr7:117306983C>T	ENST00000003084.6	+	27	4396	c.4264C>T	c.(4264-4266)Cgg>Tgg	p.R1422W	CFTR_ENST00000454343.1_Missense_Mutation_p.R1361W	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1422	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	GAACAAAGTGCGGCAGTACGA	0.552									Cystic Fibrosis																													uc003vjd.3																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	GRCh37	CM972965	CFTR	M		c.(4264-4266)Cgg>Tgg		Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	Bumetanide(DB00887)|Glibenclamide(DB01016)	C	TRP/ARG	0,4406		0,0,2203	58.0	50.0	53.0		4264	3.6	1.0	7		53	1,8599	1.2+/-3.3	0,1,4299	no	missense	CFTR	NM_000492.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1422/1481	117306983	1,13005	2203	4300	6503	SO:0001583	missense	1080	Cystic Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117306983C>T	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.4264C>T	7.37:g.117306983C>T	ENSP00000003084:p.Arg1422Trp					CFTR_uc011knq.2_Missense_Mutation_p.R828W	p.R1422W	NM_000492	NP_000483	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		26	4396	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		1422			ABC transporter 2.		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	c.4264C>T	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462107	0.43736	0.0	1.16E-4	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.90563	-2.69;-2.69;-2.69	5.47	3.6	0.41247	ABC transporter-like (1);	0.108387	0.64402	N	0.000006	D	0.86506	0.5949	L	0.54323	1.7	0.42338	D	0.992328	B	0.18461	0.028	B	0.11329	0.006	T	0.81195	-0.1043	10	0.46703	T	0.11	-5.3826	8.847	0.35177	0.3457:0.5827:0.0:0.0716	.	1422	P13569	CFTR_HUMAN	W	1422;1361;1392	ENSP00000003084:R1422W;ENSP00000403677:R1361W;ENSP00000389119:R1392W	ENSP00000003084:R1422W	R	+	1	2	CFTR	117094219	0.998000	0.40836	0.998000	0.56505	0.943000	0.58893	0.576000	0.23744	0.733000	0.32492	0.557000	0.71058	CGG		0.552	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492	
KIAA1549	57670	broad.mit.edu	37	7	138546043	138546043	+	Missense_Mutation	SNP	G	G	C			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr7:138546043G>C	ENST00000422774.1	-	16	5137	c.5089C>G	c.(5089-5091)Ctc>Gtc	p.L1697V	KIAA1549_ENST00000242365.4_Missense_Mutation_p.L1647V|KIAA1549_ENST00000440172.1_Missense_Mutation_p.L1697V			Q9HCM3	K1549_HUMAN	KIAA1549	1697						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GGGGCCACGAGGGCAAAGGCG	0.697			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	uc011kql.2				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(5089-5091)Ctc>Gtc		Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.							39.0	49.0	45.0					7																	138546043		2104	4202	6306	SO:0001583	missense	57670					integral to membrane		g.chr7:138546043G>C		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.5089C>G	7.37:g.138546043G>C	ENSP00000416040:p.Leu1697Val					KIAA1549_uc011kqi.2_Missense_Mutation_p.L481V|KIAA1549_uc011kqk.2_Missense_Mutation_p.L481V|KIAA1549_uc011kqj.2_Missense_Mutation_p.L1697V	p.L1697V	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN			15	5138	-			1697					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.5089C>G	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044571	0.75732	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.65364	-0.13;-0.12;-0.15	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.79661	0.4484	M	0.77820	2.39	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.998;1.0;0.998	D;D;D;D	0.87578	0.998;0.996;0.997;0.996	T	0.82684	-0.0335	10	0.87932	D	0	.	16.9444	0.86227	0.0:0.0:1.0:0.0	.	1697;481;1697;481	Q9HCM3;Q9HCM3-4;Q9HCM3-2;Q9HCM3-3	K1549_HUMAN;.;.;.	V	1697;1647;1697	ENSP00000406661:L1697V;ENSP00000242365:L1647V;ENSP00000416040:L1697V	ENSP00000242365:L1647V	L	-	1	0	KIAA1549	138196583	1.000000	0.71417	0.996000	0.52242	0.855000	0.48748	5.997000	0.70646	2.542000	0.85734	0.563000	0.77884	CTC		0.697	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1		
PARP12	64761	broad.mit.edu	37	7	139727128	139727128	+	Missense_Mutation	SNP	C	C	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr7:139727128C>A	ENST00000263549.3	-	10	2449	c.1576G>T	c.(1576-1578)Gtt>Ttt	p.V526F		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	526	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					ATCTTCTGAACAAAGTAGAAA	0.512																																						uc003vvl.1																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19						c.(1576-1578)Gtt>Ttt		Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA.							99.0	91.0	94.0					7																	139727128		2203	4300	6503	SO:0001583	missense	64761					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding	g.chr7:139727128C>A	AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	21919	protein-coding gene	gene with protein product		612481	"""zinc finger CCCH-type domain containing 1"""	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.1576G>T	7.37:g.139727128C>A	ENSP00000263549:p.Val526Phe					PARP12_uc010lnf.1_Non-coding_Transcript	p.V526F	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN			9	2450	-	Melanoma(164;0.0142)		526			PARP catalytic.		Q9H610|Q9NP36|Q9NTI3	Missense_Mutation	SNP	ENST00000263549.3	37	c.1576G>T	CCDS5857.1	.	.	.	.	.	.	.	.	.	.	C	35	5.505220	0.96371	.	.	ENSG00000059378	ENST00000263549	T	0.19394	2.15	5.6	-1.68	0.08212	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.298295	0.34802	N	0.003662	T	0.35770	0.0943	M	0.80183	2.485	0.34557	D	0.711933	D	0.58620	0.983	P	0.55222	0.771	T	0.55237	-0.8172	10	0.87932	D	0	.	11.3819	0.49763	0.0:0.208:0.0:0.792	.	526	Q9H0J9	PAR12_HUMAN	F	526	ENSP00000263549:V526F	ENSP00000263549:V526F	V	-	1	0	PARP12	139373597	0.716000	0.27956	0.019000	0.16419	0.997000	0.91878	1.207000	0.32333	-0.209000	0.10156	0.655000	0.94253	GTT		0.512	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	NM_022750	
OR2A14	135941	broad.mit.edu	37	7	143826811	143826811	+	Silent	SNP	C	C	T	rs571103587	byFrequency	TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr7:143826811C>T	ENST00000408899.2	+	1	661	c.606C>T	c.(604-606)tgC>tgT	p.C202C		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	202						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					TTGCAGCCTGCGTGTTCATCC	0.577													C|||	7	0.00139776	0.0	0.0	5008	,	,		20242	0.0		0.0	False		,,,				2504	0.0072					uc011kua.2																			0				large_intestine(4)|lung(17)|skin(1)	22						c.(604-606)tgC>tgT		Homo sapiens olfactory receptor, family 2, subfamily A, member 14 (OR2A14), mRNA.							153.0	159.0	157.0					7																	143826811		2039	4195	6234	SO:0001819	synonymous_variant	135941				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143826811C>T		CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"""GPCR / Class A : Olfactory receptors"""	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.606C>T	7.37:g.143826811C>T							p.C202C	NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN			0	606	+	Melanoma(164;0.0783)		202					Q6IF41|Q8NGT8	Silent	SNP	ENST00000408899.2	37	c.606C>T	CCDS43672.1																																																																																				0.577	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349980.1		
CNTNAP2	26047	broad.mit.edu	37	7	147092850	147092850	+	Missense_Mutation	SNP	G	G	C			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr7:147092850G>C	ENST00000361727.3	+	10	2164	c.1648G>C	c.(1648-1650)Gac>Cac	p.D550H		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	550	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.D550N(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGTCAGCATTGACATGTGTGC	0.428										HNSCC(39;0.1)																												uc003weu.2																			1	Substitution - Missense(1)	p.D550N(2)	lung(1)	NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(1648-1650)Gac>Cac		Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.							154.0	136.0	142.0					7																	147092850		2203	4299	6502	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147092850G>C	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1648G>C	7.37:g.147092850G>C	ENSP00000354778:p.Asp550His	HNSCC(39;0.1)				MIR548I4_uc022aoo.1_Intron	p.D550H	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		9	2164	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	550			Laminin G-like 2.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1648G>C	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.599664	0.87055	.	.	ENSG00000174469	ENST00000361727	T	0.76578	-1.03	5.27	5.27	0.74061	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.64402	D	0.000002	D	0.89015	0.6595	M	0.85859	2.78	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	D	0.90234	0.4281	10	0.59425	D	0.04	.	17.4973	0.87722	0.0:0.0:1.0:0.0	.	550	Q9UHC6	CNTP2_HUMAN	H	550	ENSP00000354778:D550H	ENSP00000354778:D550H	D	+	1	0	CNTNAP2	146723783	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.321000	0.96353	2.475000	0.83589	0.591000	0.81541	GAC		0.428	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1		
DLC1	10395	broad.mit.edu	37	8	13251148	13251148	+	Nonsense_Mutation	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr8:13251148G>A	ENST00000276297.4	-	4	1637	c.1228C>T	c.(1228-1230)Cga>Tga	p.R410*	DLC1_ENST00000316609.5_Nonsense_Mutation_p.R410*|DLC1_ENST00000511869.1_Nonsense_Mutation_p.R410*	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	410					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.R410L(3)|p.R410*(2)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AAATTTACTCGTGTCTGATTT	0.423																																						uc003wwm.2																			5	Substitution - Missense(3)|Substitution - Nonsense(2)	p.R410L(4)|p.R410*(3)	lung(3)|large_intestine(2)	NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(1228-1230)Cga>Tga		Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.							163.0	152.0	156.0					8																	13251148		2203	4300	6503	SO:0001587	stop_gained	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:13251148G>A	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.1228C>T	8.37:g.13251148G>A	ENSP00000276297:p.Arg410*					DLC1_uc003wwn.3_Nonsense_Mutation_p.R410*|DLC1_uc011kxy.2_Nonsense_Mutation_p.R410*	p.R410*	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN			3	1672	-			410					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Nonsense_Mutation	SNP	ENST00000276297.4	37	c.1228C>T	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	G	35	5.488499	0.96323	.	.	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	.	.	.	4.78	3.89	0.44902	.	1.162670	0.06418	N	0.721807	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	13.0033	0.58690	0.0:0.0:0.8382:0.1618	.	.	.	.	X	410	.	ENSP00000276297:R410X	R	-	1	2	DLC1	13295519	0.269000	0.24143	0.003000	0.11579	0.365000	0.29674	2.706000	0.47135	1.347000	0.45714	0.650000	0.86243	CGA		0.423	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094	
MTUS1	57509	broad.mit.edu	37	8	17573333	17573333	+	Missense_Mutation	SNP	A	A	G			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr8:17573333A>G	ENST00000262102.6	-	5	2751	c.2527T>C	c.(2527-2529)Tat>Cat	p.Y843H	MTUS1_ENST00000519263.1_Missense_Mutation_p.Y789H|MTUS1_ENST00000381869.3_Missense_Mutation_p.Y789H|MTUS1_ENST00000544260.1_5'UTR|MTUS1_ENST00000381861.3_Missense_Mutation_p.Y90H	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	843					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GGCTTCAAATAAAAGGATCCT	0.428																																						uc003wxv.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36						c.(2527-2529)Tat>Cat		Homo sapiens microtubule associated tumor suppressor 1 (MTUS1), transcript variant 1, mRNA.							157.0	152.0	154.0					8																	17573333		1835	4086	5921	SO:0001583	missense	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17573333A>G	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.2527T>C	8.37:g.17573333A>G	ENSP00000262102:p.Tyr843His					MTUS1_uc003wxt.3_Missense_Mutation_p.Y90H|MTUS1_uc011kyg.2_5'UTR|MTUS1_uc010lsy.3_Non-coding_Transcript|MTUS1_uc003wxw.3_Missense_Mutation_p.Y789H	p.Y843H	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	4	3001	-			843					A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	37	c.2527T>C	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	A	16.26	3.073566	0.55646	.	.	ENSG00000129422	ENST00000381869;ENST00000381861;ENST00000262102;ENST00000519263	T;T;T;T	0.35421	3.2;2.47;1.31;3.2	4.85	4.85	0.62838	.	0.617024	0.17519	N	0.171310	T	0.45617	0.1351	M	0.63428	1.95	0.09310	N	0.999997	D;D;P	0.61080	0.989;0.989;0.857	P;P;P	0.56700	0.804;0.804;0.51	T	0.32613	-0.9900	10	0.22109	T	0.4	-3.992	8.2479	0.31700	0.86:0.0:0.14:0.0	.	789;843;90	Q9ULD2-2;Q9ULD2;Q9ULD2-6	.;MTUS1_HUMAN;.	H	789;90;843;789	ENSP00000371293:Y789H;ENSP00000371285:Y90H;ENSP00000262102:Y843H;ENSP00000430167:Y789H	ENSP00000262102:Y843H	Y	-	1	0	MTUS1	17617613	0.052000	0.20516	0.781000	0.31783	0.996000	0.88848	1.528000	0.35985	2.120000	0.65058	0.533000	0.62120	TAT		0.428	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031	
ATAD2	29028	broad.mit.edu	37	8	124382139	124382139	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr8:124382139C>T	ENST00000287394.5	-	7	960	c.853G>A	c.(853-855)Gat>Aat	p.D285N	ATAD2_ENST00000534257.1_5'Flank|ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	285	Asp-rich.				ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			tcttctccatcttcttcatct	0.358																																						uc003yqh.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48						c.(853-855)Gat>Aat		Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA.							283.0	220.0	242.0					8																	124382139		2203	4300	6503	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124382139C>T	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.853G>A	8.37:g.124382139C>T	ENSP00000287394:p.Asp285Asn					ATAD2_uc011lii.2_Missense_Mutation_p.D76N|ATAD2_uc003yqi.4_Non-coding_Transcript|ATAD2_uc003yqj.3_Missense_Mutation_p.D285N	p.D285N	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		6	961	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		285			Asp-rich.		Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.853G>A	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.459834	0.63401	.	.	ENSG00000156802	ENST00000287394	T	0.14516	2.5	4.67	4.67	0.58626	.	1.343780	0.05592	U	0.574900	T	0.18509	0.0444	N	0.19112	0.55	0.80722	D	1	P;P	0.52577	0.943;0.954	P;P	0.50082	0.63;0.535	T	0.24835	-1.0149	10	0.24483	T	0.36	-3.4778	16.9975	0.86372	0.0:1.0:0.0:0.0	.	115;285	Q6PL18-2;Q6PL18	.;ATAD2_HUMAN	N	285	ENSP00000287394:D285N	ENSP00000287394:D285N	D	-	1	0	ATAD2	124451320	1.000000	0.71417	0.978000	0.43139	0.442000	0.32017	6.015000	0.70791	2.523000	0.85059	0.561000	0.74099	GAT		0.358	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109	
FREM1	158326	broad.mit.edu	37	9	14789086	14789086	+	Silent	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr9:14789086G>A	ENST00000380880.3	-	23	4791	c.4008C>T	c.(4006-4008)tcC>tcT	p.S1336S	FREM1_ENST00000380881.4_Silent_p.S1337S|FREM1_ENST00000422223.2_Silent_p.S1336S			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1336					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCATGCCAGGGGAGAGAGGAA	0.493																																						uc003zlm.3																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(4006-4008)tcC>tcT		Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.							60.0	61.0	61.0					9																	14789086		1945	4150	6095	SO:0001819	synonymous_variant	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14789086G>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.4008C>T	9.37:g.14789086G>A						FREM1_uc010mic.3_Intron	p.S1336S	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	23	4824	-			1336					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	ENST00000380880.3	37	c.4008C>T	CCDS47952.1																																																																																				0.493	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966	
TEK	7010	broad.mit.edu	37	9	27205000	27205000	+	Silent	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr9:27205000G>A	ENST00000380036.4	+	14	2743	c.2301G>A	c.(2299-2301)ctG>ctA	p.L767L	TEK_ENST00000406359.4_Silent_p.L724L|TEK_ENST00000519097.1_Silent_p.L620L	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	767					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	TGGCCTTTCTGATCATATTGC	0.517																																						uc011lno.2																			0		p.P723T(1)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(2170-2172)ctG>ctA		Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.							151.0	118.0	129.0					9																	27205000		2203	4300	6503	SO:0001819	synonymous_variant	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27205000G>A	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.2301G>A	9.37:g.27205000G>A						TEK_uc003zqi.4_Silent_p.L767L|TEK_uc011lnp.2_Silent_p.L620L|TEK_uc003zqj.1_Silent_p.L701L	p.L724L	NM_000459	NP_000450	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	12	2614	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	767		A -> T (in dbSNP:rs4631561).	Fibronectin type-III 3.		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Silent	SNP	ENST00000380036.4	37	c.2172G>A	CCDS6519.1																																																																																				0.517	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3		
UBAP1	51271	broad.mit.edu	37	9	34234331	34234331	+	Frame_Shift_Del	DEL	A	A	-			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr9:34234331delA	ENST00000297661.4	+	3	387	c.152delA	c.(151-153)gaafs	p.E51fs	UBAP1_ENST00000536252.1_Frame_Shift_Del_p.E51fs|UBAP1_ENST00000545103.1_Frame_Shift_Del_p.E115fs|UBAP1_ENST00000543944.1_Intron|UBAP1_ENST00000379186.4_Frame_Shift_Del_p.E51fs|UBAP1_ENST00000359544.2_Frame_Shift_Del_p.E51fs|UBAP1_ENST00000540348.1_Frame_Shift_Del_p.E51fs	NM_016525.4	NP_057609.2	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	51	UMA. {ECO:0000255|PROSITE- ProRule:PRU00830}.				protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ESCRT I complex (GO:0000813)	ubiquitin binding (GO:0043130)			endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			GTTGTCAGAGAAGTACAGGTA	0.338																																					NSCLC(109;1074 1634 14978 20375 39620)	uc022bfy.1																			0				endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13						c.(151-153)gaafs		Homo sapiens ubiquitin associated protein 1 (UBAP1), transcript variant 2, mRNA.							111.0	107.0	109.0					9																	34234331		2203	4300	6503	SO:0001589	frameshift_variant	51271					cytoplasm		g.chr9:34234331delA	AF222043	CCDS6550.1	9p13.3	2008-05-15	2002-08-27	2002-08-30	ENSG00000165006	ENSG00000165006			12461	protein-coding gene	gene with protein product		609787	"""ubiquitin associated protein"""	UBAP			Standard	NM_001171201		Approved		uc011loj.2	Q9NZ09	OTTHUMG00000000430	ENST00000297661.4:c.152delA	9.37:g.34234331delA	ENSP00000297661:p.Glu51fs					UBAP1_uc010mka.2_Intron|UBAP1_uc003zty.3_Frame_Shift_Del_p.E51fs|UBAP1_uc022bfz.1_Frame_Shift_Del_p.E51fs|UBAP1_uc003ztx.3_Frame_Shift_Del_p.E51fs|UBAP1_uc011loj.2_Frame_Shift_Del_p.E115fs|UBAP1_uc011loi.2_Intron|KIF24_uc010mkb.3_Intron|UBAP1_uc003ztz.3_Frame_Shift_Del_p.E51fs	p.E51fs	NM_001171203	NP_057609	Q9NZ09	UBAP1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00272)		3	550	+			51			UMA.		B7Z348|B7Z8N9|D3DRL7|F5GXE2|F5H0J8|Q4V759|Q53FP7|Q5T7B3|Q6FI75|Q8NC52|Q8NCG6|Q8NCH9	Frame_Shift_Del	DEL	ENST00000297661.4	37	c.152delA	CCDS6550.1																																																																																				0.338	UBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001084.1		
VPS13A	23230	broad.mit.edu	37	9	79985216	79985216	+	Missense_Mutation	SNP	T	T	C			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr9:79985216T>C	ENST00000360280.3	+	64	8971	c.8711T>C	c.(8710-8712)cTa>cCa	p.L2904P	VPS13A_ENST00000376636.3_Missense_Mutation_p.L2865P|VPS13A_ENST00000376634.4_Missense_Mutation_p.L2904P|VPS13A_ENST00000357409.5_Missense_Mutation_p.L2904P	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2904					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GGAATGGCACTAGGACTTAAG	0.383																																						uc004akr.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(8710-8712)cTa>cCa		Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.							98.0	95.0	96.0					9																	79985216		2203	4300	6503	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79985216T>C	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.8711T>C	9.37:g.79985216T>C	ENSP00000353422:p.Leu2904Pro					VPS13A_uc004akp.4_Missense_Mutation_p.L2904P|VPS13A_uc004akq.4_Missense_Mutation_p.L2904P|VPS13A_uc004aks.3_Missense_Mutation_p.L2865P	p.L2904P	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN			63	8971	+			2904					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.8711T>C	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	T	18.81	3.702112	0.68501	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.50548	0.92;0.74;0.83;0.9	5.59	5.59	0.84812	.	0.208117	0.41823	D	0.000804	T	0.71913	0.3396	M	0.86178	2.8	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.80764	0.987;0.99;0.994;0.994	T	0.76141	-0.3068	9	.	.	.	.	15.7726	0.78184	0.0:0.0:0.0:1.0	.	2865;2904;2904;2904	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	P	2904;2865;2904;2904	ENSP00000365821:L2904P;ENSP00000365823:L2865P;ENSP00000353422:L2904P;ENSP00000349985:L2904P	.	L	+	2	0	VPS13A	79175036	0.988000	0.35896	1.000000	0.80357	0.987000	0.75469	7.673000	0.83973	2.133000	0.65898	0.383000	0.25322	CTA		0.383	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186	
FOXR2	139628	broad.mit.edu	37	X	55650313	55650313	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chrX:55650313C>T	ENST00000339140.3	+	1	481	c.169C>T	c.(169-171)Cca>Tca	p.P57S		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	57					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						AATGAAGCCCCCAGAAATGCC	0.517																																						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.(169-171)Cca>Tca		Homo sapiens forkhead box R2 (FOXR2), mRNA.							90.0	82.0	85.0					X																	55650313		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:55650313C>T	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.169C>T	X.37:g.55650313C>T	ENSP00000427329:p.Pro57Ser						p.P57S	NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN			0	481	+			57						Missense_Mutation	SNP	ENST00000339140.3	37	c.169C>T	CCDS35308.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.969769	0.34754	.	.	ENSG00000189299	ENST00000339140	D	0.93604	-3.25	3.53	3.53	0.40419	.	1.445930	0.04441	N	0.370917	D	0.95623	0.8577	L	0.60455	1.87	0.09310	N	1	D	0.76494	0.999	D	0.71184	0.972	D	0.85941	0.1458	10	0.37606	T	0.19	.	9.6639	0.39972	0.0:1.0:0.0:0.0	.	57	Q6PJQ5	FOXR2_HUMAN	S	57	ENSP00000427329:P57S	ENSP00000427329:P57S	P	+	1	0	FOXR2	55667038	0.005000	0.15991	0.068000	0.19968	0.069000	0.16628	1.027000	0.30115	2.027000	0.59764	0.513000	0.50165	CCA		0.517	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056877.2	NM_198451	
YIPF6	286451	broad.mit.edu	37	X	67742720	67742720	+	Missense_Mutation	SNP	C	C	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chrX:67742720C>A	ENST00000462683.1	+	6	1297	c.553C>A	c.(553-555)Ctt>Att	p.L185I	YIPF6_ENST00000374622.2_Missense_Mutation_p.L142I	NM_173834.3	NP_776195.2	Q96EC8	YIPF6_HUMAN	Yip1 domain family, member 6	185					intestinal epithelial cell development (GO:0060576)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						CATGGTTCGGCTTTTTGTGGT	0.408																																						uc004dwz.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						c.(553-555)Ctt>Att		Homo sapiens Yip1 domain family, member 6 (YIPF6), transcript variant A, mRNA.							248.0	175.0	200.0					X																	67742720		2203	4300	6503	SO:0001583	missense	286451					endoplasmic reticulum|integral to membrane		g.chrX:67742720C>A	BC012469	CCDS14389.1, CCDS56604.1	Xq13.1	2008-02-05			ENSG00000181704	ENSG00000181704		"""Yip1 domain family"""	28304	protein-coding gene	gene with protein product						12477932	Standard	NM_173834		Approved	MGC21416, FinGER6	uc004dwz.3	Q96EC8	OTTHUMG00000021745	ENST00000462683.1:c.553C>A	X.37:g.67742720C>A	ENSP00000417573:p.Leu185Ile					YIPF6_uc011mph.2_Missense_Mutation_p.L142I	p.L185I	NM_173834	NP_776195	Q96EC8	YIPF6_HUMAN			5	838	+			185					B4E1U7|G5E997|Q5JP08	Missense_Mutation	SNP	ENST00000462683.1	37	c.553C>A	CCDS14389.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.730091	0.48939	.	.	ENSG00000181704	ENST00000462683;ENST00000451537;ENST00000374622	T;T;T	0.80994	-1.44;0.26;0.77	5.43	3.64	0.41730	Yip1 domain (1);	0.062487	0.64402	D	0.000003	T	0.72859	0.3513	L	0.39147	1.195	0.54753	D	0.999982	B;B	0.28128	0.036;0.201	B;B	0.35278	0.067;0.199	T	0.65549	-0.6141	10	0.22706	T	0.39	-8.7832	9.9625	0.41704	0.0:0.8174:0.0:0.1826	.	142;185	G5E997;Q96EC8	.;YIPF6_HUMAN	I	185;142;142	ENSP00000417573:L185I;ENSP00000401799:L142I;ENSP00000363751:L142I	ENSP00000363751:L142I	L	+	1	0	YIPF6	67659445	0.815000	0.29118	0.950000	0.38849	0.945000	0.59286	1.441000	0.35035	1.200000	0.43188	0.523000	0.50628	CTT		0.408	YIPF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057016.1	NM_173834	
FAM199X	139231	broad.mit.edu	37	X	103434406	103434406	+	Missense_Mutation	SNP	T	T	C			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chrX:103434406T>C	ENST00000493442.1	+	6	1280	c.1114T>C	c.(1114-1116)Tcc>Ccc	p.S372P	FAM199X_ENST00000299906.5_3'UTR	NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	372										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						AGAGGTGCTGTCCTTGAAAGT	0.473																																						uc004elw.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						c.(1114-1116)Tcc>Ccc		Homo sapiens family with sequence similarity 199, X-linked (FAM199X), mRNA.							150.0	125.0	133.0					X																	103434406		2203	4300	6503	SO:0001583	missense	139231							g.chrX:103434406T>C	BC016683	CCDS35364.1	Xq22	2010-02-11	2010-02-11	2010-02-11	ENSG00000123575	ENSG00000123575			25195	protein-coding gene	gene with protein product			"""chromosome X open reading frame 39"""	CXorf39			Standard	NM_207318		Approved		uc004elw.3	Q6PEV8	OTTHUMG00000022126	ENST00000493442.1:c.1114T>C	X.37:g.103434406T>C	ENSP00000417581:p.Ser372Pro					FAM199X_uc004elx.3_Missense_Mutation_p.S146P	p.S372P	NM_207318	NP_997201	Q6PEV8	F199X_HUMAN			5	1425	+			372					Q8WVP6|Q96AV3	Missense_Mutation	SNP	ENST00000493442.1	37	c.1114T>C	CCDS35364.1	.	.	.	.	.	.	.	.	.	.	T	15.52	2.859163	0.51376	.	.	ENSG00000123575	ENST00000493442	.	.	.	5.07	5.07	0.68467	.	0.051528	0.85682	D	0.000000	T	0.58293	0.2112	L	0.60455	1.87	0.80722	D	1	P;P	0.42409	0.779;0.718	P;B	0.44359	0.447;0.426	T	0.58940	-0.7547	8	.	.	.	-5.6881	13.353	0.60613	0.0:0.0:0.0:1.0	.	329;372	Q6PEV8-2;Q6PEV8	.;F199X_HUMAN	P	372	.	.	S	+	1	0	FAM199X	103321062	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.215000	0.72206	1.815000	0.52974	0.481000	0.45027	TCC		0.473	FAM199X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057764.1	NM_207318	
COL4A5	1287	broad.mit.edu	37	X	107911614	107911614	+	Missense_Mutation	SNP	G	G	A	rs104886391		TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chrX:107911614G>A	ENST00000361603.2	+	41	3914	c.3670G>A	c.(3670-3672)Gaa>Aaa	p.E1224K	COL4A5_ENST00000328300.6_Missense_Mutation_p.E1224K	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1224	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TCCAAAGGGCGAACCAGGCTT	0.532									Alport syndrome with Diffuse Leiomyomatosis																													uc022ccg.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(3670-3672)Gaa>Aaa		Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.							60.0	54.0	56.0					X																	107911614		2203	4300	6503	SO:0001583	missense	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107911614G>A	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.3670G>A	X.37:g.107911614G>A	ENSP00000354505:p.Glu1224Lys					COL4A5_uc004enz.1_Missense_Mutation_p.E1224K	p.E1224K	NM_033380	NP_203699	P29400	CO4A5_HUMAN			40	3872	+			1224			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.3670G>A	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.899086	0.72754	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.93811	-3.24;-3.29	5.97	5.97	0.96955	.	0.205916	0.45606	D	0.000351	D	0.93429	0.7904	M	0.66506	2.035	0.49483	D	0.999794	D;D	0.53151	0.958;0.958	B;B	0.43990	0.438;0.438	D	0.93799	0.7099	10	0.62326	D	0.03	.	19.2739	0.94023	0.0:0.0:1.0:0.0	.	1224;1224	E7EVY4;P29400	.;CO4A5_HUMAN	K	1224	ENSP00000331902:E1224K;ENSP00000354505:E1224K	ENSP00000331902:E1224K	E	+	1	0	COL4A5	107798270	1.000000	0.71417	0.997000	0.53966	0.850000	0.48378	9.334000	0.96470	2.504000	0.84457	0.594000	0.82650	GAA		0.532	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2		
ZNF275	10838	broad.mit.edu	37	X	152613030	152613030	+	Missense_Mutation	SNP	C	C	T	rs370916699		TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chrX:152613030C>T	ENST00000421401.3	+	4	1064	c.887C>T	c.(886-888)cCc>cTc	p.P296L	ZNF275_ENST00000370251.3_Missense_Mutation_p.P296L|ZNF275_ENST00000370249.2_Missense_Mutation_p.P243L|ZNF275_ENST00000440091.1_Missense_Mutation_p.P326L			Q9NSD4	ZN275_HUMAN	zinc finger protein 275	296					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(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TACGGGTGTCCCCACTGCGGC	0.682																																						uc011myn.2																			0				endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(697-699)cCc>cTc		Homo sapiens zinc finger protein 275 (ZNF275), mRNA.		C	LEU/PRO	1,3805		0,1,1617,570	16.0	18.0	17.0		887	-1.8	0.0	X		17	0,6704		0,0,2425,1854	no	missense	ZNF275	NM_001080485.3	98	0,1,4042,2424	TT,TC,CC,C		0.0,0.0263,0.0095	possibly-damaging	296/330	152613030	1,10509	2188	4279	6467	SO:0001583	missense	10838					intracellular	nucleic acid binding|zinc ion binding	g.chrX:152613030C>T	BC041602		Xq28	2013-01-08			ENSG00000063587	ENSG00000063587		"""Zinc fingers, C2H2-type"", ""-"""	13069	protein-coding gene	gene with protein product							Standard	NM_001080485		Approved		uc004fhg.2	Q9NSD4	OTTHUMG00000067450	ENST00000421401.3:c.887C>T	X.37:g.152613030C>T	ENSP00000398977:p.Pro296Leu					ZNF275_uc004fhg.2_Missense_Mutation_p.P296L|ZNF275_uc022cht.1_Missense_Mutation_p.P233L|ZNF275_uc022chu.1_5'Flank	p.P233L	NM_001080485	NP_001073954	A6NFS0	A6NFS0_HUMAN			1	1600	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		296					A6NE92	Missense_Mutation	SNP	ENST00000421401.3	37	c.698C>T		.	.	.	.	.	.	.	.	.	.	C	3.648	-0.072043	0.07228	2.63E-4	0.0	ENSG00000063587	ENST00000370251;ENST00000421401;ENST00000440091;ENST00000370249	T;T;T;T	0.54866	0.55;3.23;3.23;3.23	4.49	-1.81	0.07882	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.595728	0.14115	N	0.340475	T	0.27027	0.0662	N	0.17082	0.46	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.13150	-1.0520	10	0.59425	D	0.04	-4.8402	0.4026	0.00428	0.2814:0.2073:0.1367:0.3745	.	296;296	Q9NSD4;A6NFS0	ZN275_HUMAN;.	L	296;296;326;243	ENSP00000359271:P296L;ENSP00000398977:P296L;ENSP00000411097:P326L;ENSP00000359269:P243L	ENSP00000359269:P243L	P	+	2	0	ZNF275	152266224	0.000000	0.05858	0.001000	0.08648	0.116000	0.19942	-1.699000	0.01906	-0.419000	0.07439	-0.422000	0.05995	CCC		0.682	ZNF275-201	KNOWN	basic	protein_coding	protein_coding		NM_001080485	
SLC10A3	8273	broad.mit.edu	37	X	153716308	153716308	+	Silent	SNP	C	C	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chrX:153716308C>A	ENST00000393587.4	-	3	1235	c.972G>T	c.(970-972)ctG>ctT	p.L324L	UBL4A_ENST00000369653.4_5'Flank|SLC10A3_ENST00000263512.4_Silent_p.L324L|UBL4A_ENST00000477777.1_5'Flank|SLC10A3_ENST00000393586.1_Silent_p.L379L|SLC10A3_ENST00000369649.4_Silent_p.L295L|UBL4A_ENST00000369660.4_5'Flank	NM_001142391.1|NM_001142392.1	NP_001135863.1|NP_001135864.1	P09131	P3_HUMAN	solute carrier family 10, member 3	324					response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCAGGGTCCCCAGGATCTTGG	0.607																																						uc022cig.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(970-972)ctG>ctT		Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 3 (SLC10A3), transcript variant 1, mRNA.							64.0	65.0	65.0					X																	153716308		2203	4300	6503	SO:0001819	synonymous_variant	8273				organic anion transport	integral to membrane	bile acid:sodium symporter activity	g.chrX:153716308C>A	X12458	CCDS14755.1, CCDS48195.1	Xq28	2013-07-18	2013-07-18		ENSG00000126903	ENSG00000126903		"""Solute carriers"""	22979	protein-coding gene	gene with protein product		312090				8733135	Standard	NM_019848		Approved	P3, DXS253E	uc004flq.3	P09131	OTTHUMG00000013369	ENST00000393587.4:c.972G>T	X.37:g.153716308C>A						UBL4A_uc004flo.3_5'Flank|SLC10A3_uc004flr.3_Silent_p.L295L|SLC10A3_uc004flq.3_Silent_p.L324L|SLC10A3_uc004flp.3_Silent_p.L324L	p.L324L	NM_019848	NP_062822	P09131	P3_HUMAN			0	972	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		324					Q5HY79|Q9BSL2	Silent	SNP	ENST00000393587.4	37	c.972G>T	CCDS14755.1																																																																																				0.607	SLC10A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037235.3	NM_019848	
