#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
TAS1R1	80835	broad.mit.edu	37	1	6639227	6639227	+	Silent	SNP	A	A	G			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr1:6639227A>G	ENST00000333172.6	+	6	2302	c.2109A>G	c.(2107-2109)ccA>ccG	p.P703P	ZBTB48_ENST00000377674.4_5'Flank|TAS1R1_ENST00000351136.3_Silent_p.P449P|TAS1R1_ENST00000328191.4_3'UTR	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	703					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TGTGGACCCCACTGCCTGCTA	0.577																																						uc001ant.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(2107-2109)ccA>ccG		Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA.							107.0	98.0	101.0					1																	6639227		2203	4300	6503	SO:0001819	synonymous_variant	80835				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:6639227A>G		CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14448	protein-coding gene	gene with protein product		606225	"""G protein-coupled receptor 70"""	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.2109A>G	1.37:g.6639227A>G						TAS1R1_uc001anu.3_Silent_p.P449P|TAS1R1_uc021ofp.1_3'UTR|ZBTB48_uc009vmc.2_5'Flank|ZBTB48_uc001anx.3_5'Flank|ZBTB48_uc009vmd.2_5'Flank	p.P703P	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	5	2205	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	703					B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Silent	SNP	ENST00000333172.6	37	c.2109A>G	CCDS81.1																																																																																				0.577	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1		
PABPC4	8761	broad.mit.edu	37	1	40029374	40029374	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr1:40029374G>A	ENST00000372857.3	-	12	2324	c.1532C>T	c.(1531-1533)gCt>gTt	p.A511V	PABPC4_ENST00000372862.3_Missense_Mutation_p.A482V|PABPC4_ENST00000372856.3_Missense_Mutation_p.A498V|PABPC4_ENST00000372858.3_Missense_Mutation_p.A527V|RP11-69E11.8_ENST00000415255.1_RNA	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	511	Poly-Ala.				blood coagulation (GO:0007596)|RNA catabolic process (GO:0006401)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGCAGCAACAGCAGCGCGTGG	0.572																																						uc001cdl.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21						c.(1579-1581)gCt>gTt		Homo sapiens poly(A) binding protein, cytoplasmic 4 (inducible form) (PABPC4), transcript variant 1, mRNA.							51.0	56.0	54.0					1																	40029374		2203	4300	6503	SO:0001583	missense	8761				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding	g.chr1:40029374G>A	U33818	CCDS438.1, CCDS44114.1, CCDS44115.1	1p34.2	2013-02-12	2001-11-28		ENSG00000090621	ENSG00000090621		"""RNA binding motif (RRM) containing"""	8557	protein-coding gene	gene with protein product		603407	"""poly(A)-binding protein, cytoplasmic 4 (inducible form)"""			10543404	Standard	NM_001135653		Approved	iPABP, APP-1	uc001cdl.2	Q13310	OTTHUMG00000009097	ENST00000372857.3:c.1532C>T	1.37:g.40029374G>A	ENSP00000361948:p.Ala511Val					PABPC4_uc010oiv.1_Missense_Mutation_p.A511V|PABPC4_uc001cdm.2_Missense_Mutation_p.A498V	p.A527V	NM_001135653	NP_001129125	Q13310	PABP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		11	2478	-	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	511					B1ANQ8|Q4VC03|Q6P0N3	Missense_Mutation	SNP	ENST00000372857.3	37	c.1580C>T	CCDS438.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.476938	0.44044	.	.	ENSG00000090621	ENST00000372862;ENST00000372858;ENST00000372857;ENST00000372856	T;T;T;T	0.42513	0.97;2.52;2.52;2.43	5.67	5.67	0.87782	Polyadenylate-binding protein/Hyperplastic disc protein (1);	0.630929	0.17960	N	0.156224	T	0.43100	0.1232	L	0.43923	1.385	0.43494	D	0.995735	B;B;B	0.19445	0.001;0.002;0.036	B;B;B	0.28991	0.006;0.008;0.097	T	0.16837	-1.0389	10	0.27785	T	0.31	.	20.1421	0.98061	0.0:0.0:1.0:0.0	.	511;498;527	Q13310;Q13310-2;Q4VC03	PABP4_HUMAN;.;.	V	482;527;511;498	ENSP00000361953:A482V;ENSP00000361949:A527V;ENSP00000361948:A511V;ENSP00000361947:A498V	ENSP00000361947:A498V	A	-	2	0	PABPC4	39801961	1.000000	0.71417	0.956000	0.39512	0.174000	0.22865	9.383000	0.97214	2.836000	0.97738	0.655000	0.94253	GCT		0.572	PABPC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025220.1	NM_001135653	
WDR47	22911	broad.mit.edu	37	1	109553699	109553699	+	Silent	SNP	T	T	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr1:109553699T>A	ENST00000369962.3	-	5	1191	c.969A>T	c.(967-969)ggA>ggT	p.G323G	WDR47_ENST00000400794.3_Silent_p.G330G|WDR47_ENST00000369965.4_Silent_p.G323G|WDR47_ENST00000357672.3_Silent_p.G295G|WDR47_ENST00000361054.3_Silent_p.G295G			O94967	WDR47_HUMAN	WD repeat domain 47	323					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		GACTGGTTAGTCCACAGGTGA	0.448																																						uc001dwl.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(988-990)ggA>ggT		Homo sapiens WD repeat domain 47 (WDR47), transcript variant 1, mRNA.							223.0	246.0	238.0					1																	109553699		2203	4296	6499	SO:0001819	synonymous_variant	22911							g.chr1:109553699T>A	AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"""WD repeat domain containing"""	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.969A>T	1.37:g.109553699T>A						WDR47_uc001dwi.3_Silent_p.G323G|WDR47_uc001dwj.3_Silent_p.G323G|WDR47_uc001dwk.2_Silent_p.G295G|WDR47_uc010ovf.2_Silent_p.G250G	p.G330G	NM_001142550	NP_001136022	O94967	WDR47_HUMAN		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)	4	1366	-		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)	323					A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Silent	SNP	ENST00000369962.3	37	c.990A>T	CCDS44187.1																																																																																				0.448	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	NM_014969	
RPTN	126638	broad.mit.edu	37	1	152127651	152127651	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr1:152127651G>A	ENST00000316073.3	-	3	1988	c.1924C>T	c.(1924-1926)Cag>Tag	p.Q642*		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	642	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CCGTTCTGCTGTGAGTCCCTA	0.483																																						uc001ezs.1																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1924-1926)Cag>Tag		Homo sapiens repetin (RPTN), mRNA.							221.0	184.0	195.0					1																	152127651		1568	3582	5150	SO:0001587	stop_gained	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152127651G>A	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1924C>T	1.37:g.152127651G>A	ENSP00000317895:p.Gln642*						p.Q642*	NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN			2	1989	-			642			Gln-rich.		B7ZBZ3	Nonsense_Mutation	SNP	ENST00000316073.3	37	c.1924C>T	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.113958	0.56398	.	.	ENSG00000215853	ENST00000316073;ENST00000541545	.	.	.	4.05	3.11	0.35812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	7.0856	11.3485	0.49575	0.0:0.1858:0.8142:0.0	.	.	.	.	X	642;297	.	ENSP00000317895:Q642X	Q	-	1	0	RPTN	150394275	0.005000	0.15991	0.002000	0.10522	0.002000	0.02628	0.848000	0.27710	0.902000	0.36520	0.579000	0.79373	CAG		0.483	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312	
PLXNA2	5362	broad.mit.edu	37	1	208205103	208205103	+	Splice_Site	SNP	C	C	T			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr1:208205103C>T	ENST00000367033.3	-	29	5814	c.5057G>A	c.(5056-5058)gGc>gAc	p.G1686D	PLXNA2_ENST00000483048.1_5'Flank	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1686					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CTGCAGGGTGCCCTGGAGGAG	0.572																																						uc001hgz.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.e29-1		Homo sapiens plexin A2 (PLXNA2), mRNA.							41.0	40.0	41.0					1																	208205103		2203	4300	6503	SO:0001630	splice_region_variant	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208205103C>T	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.5056-1G>A	1.37:g.208205103C>T						PLXNA2_uc001hgy.3_5'Flank	p.G1686_splice	NM_025179	NP_079455	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	29	5814	-			1686					A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.5056_splice	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640139	0.87760	.	.	ENSG00000076356	ENST00000367033	T	0.18810	2.19	5.02	5.02	0.67125	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.114452	0.64402	D	0.000012	T	0.57917	0.2086	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.69416	-0.5151	10	0.87932	D	0	.	18.5493	0.91057	0.0:1.0:0.0:0.0	.	1686	O75051	PLXA2_HUMAN	D	1686	ENSP00000356000:G1686D	ENSP00000356000:G1686D	G	-	2	0	PLXNA2	206271726	1.000000	0.71417	1.000000	0.80357	0.595000	0.36748	7.345000	0.79337	2.618000	0.88619	0.655000	0.94253	GGC		0.572	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179	Missense_Mutation
KIAA1217	56243	broad.mit.edu	37	10	24832950	24832950	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr10:24832950C>A	ENST00000376454.3	+	19	4781	c.4751C>A	c.(4750-4752)gCt>gAt	p.A1584D	KIAA1217_ENST00000376451.2_Missense_Mutation_p.A1267D|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000396446.1_Intron	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1584					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CAACTCGCCGCTCTCACTCAA	0.473																																						uc001iru.4																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(4750-4752)gCt>gAt		Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.							85.0	91.0	89.0					10																	24832950		2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24832950C>A	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.4751C>A	10.37:g.24832950C>A	ENSP00000365637:p.Ala1584Asp					KIAA1217_uc001irs.3_Intron|KIAA1217_uc001irt.4_Intron|KIAA1217_uc010qcy.2_Intron|KIAA1217_uc010qcz.2_Intron|KIAA1217_uc001irw.3_Intron|KIAA1217_uc001irz.3_Intron|KIAA1217_uc001irx.3_Missense_Mutation_p.A1267D|KIAA1217_uc001iry.3_Intron|KIAA1217_uc001isa.1_Missense_Mutation_p.A420D	p.A1584D	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN			18	5154	+			1584					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.4751C>A	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371164	0.82573	.	.	ENSG00000120549	ENST00000442879;ENST00000376454;ENST00000450158;ENST00000376451	T;T	0.57595	0.83;0.39	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.72471	0.3464	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.74636	-0.3599	10	0.66056	D	0.02	.	19.0404	0.92997	0.0:1.0:0.0:0.0	.	1267;1267;1584	C9JRK3;Q5T5P2-3;Q5T5P2	.;.;SKT_HUMAN	D	1267;1584;1267;1267	ENSP00000365637:A1584D;ENSP00000365634:A1267D	ENSP00000365634:A1267D	A	+	2	0	KIAA1217	24872956	1.000000	0.71417	0.967000	0.41034	0.824000	0.46624	7.436000	0.80404	2.495000	0.84180	0.561000	0.74099	GCT		0.473	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590	
AGAP7P	653268	broad.mit.edu	37	10	51464835	51464835	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr10:51464835C>T	ENST00000374095.5	-	7	1746	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN		541	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						ATCCACCGTTCCTTCTCTTCC	0.572																																						uc001jio.3																			0				kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						c.(1621-1623)Gaa>Aaa		Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 7 (AGAP7), mRNA.							107.0	129.0	121.0					10																	51464835		2197	4296	6493	SO:0001583	missense	653268				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51464835C>T																												ENST00000374095.5:c.1621G>A	10.37:g.51464835C>T	ENSP00000363208:p.Glu541Lys					PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron|DQ588224_uc021pqk.1_5'Flank	p.E541K	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN			6	1747	-			541			Arf-GAP.		A6NGH4	Missense_Mutation	SNP	ENST00000374095.5	37	c.1621G>A	CCDS41524.1	.	.	.	.	.	.	.	.	.	.	.	15.50	2.852534	0.51270	.	.	ENSG00000204169	ENST00000374095	T	0.42513	0.97	.	.	.	.	0.280844	0.37715	N	0.001974	T	0.60025	0.2237	M	0.83852	2.665	0.52501	D	0.999955	D	0.76494	0.999	D	0.97110	1.0	T	0.58154	-0.7686	9	0.87932	D	0	.	5.9763	0.19382	0.0:0.9994:0.0:6.0E-4	.	541	Q5VUJ5	AGAP7_HUMAN	K	541	ENSP00000363208:E541K	ENSP00000363208:E541K	E	-	1	0	AGAP7	51134841	1.000000	0.71417	0.036000	0.18154	0.036000	0.12997	5.054000	0.64275	0.172000	0.19760	0.175000	0.17021	GAA		0.572	AGAP7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048033.1		
PTEN	5728	broad.mit.edu	37	10	89692904	89692904	+	Nonsense_Mutation	SNP	C	C	T	rs121913292|rs121909224		TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr10:89692904C>T	ENST00000371953.3	+	5	1745	c.388C>T	c.(388-390)Cga>Tga	p.R130*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	130	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CWS1 and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9635567}.|R -> Q (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9915974}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R130G(102)|p.R130*(63)|p.0?(37)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.R130R(1)|p.A121_F145del(1)|p.R130fs*4(1)|p.G129fs*51(1)|p.F56fs*2(1)|p.G129fs*50(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGGAAAGGGACGAACTGGTGT	0.403	R130G(KMBC2_URINARY_TRACT)|R130G(OV56_OVARY)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3	R130G(KMBC2_URINARY_TRACT)|R130G(OV56_OVARY)	31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		224	Substitution - Missense(102)|Substitution - Nonsense(63)|Whole gene deletion(37)|Deletion - Frameshift(10)|Unknown(5)|Deletion - In frame(4)|Insertion - Frameshift(2)|Substitution - coding silent(1)	p.R130G(212)|p.R130*(135)|p.R130Q(68)|p.0?(37)|p.R130fs*4(16)|p.R130L(13)|p.K128_R130del(8)|p.R130P(7)|p.G129R(7)|p.?(5)|p.R55fs*1(5)|p.G129*(4)|p.G129V(3)|p.R130R(2)|p.Y27_N212>Y(2)|p.G129E(2)|p.A121_F145del(2)|p.Y27fs*1(2)|p.G129fs*50(2)|p.G129fs*51(2)|p.K128fs*47(1)|p.F56fs*2(1)|p.G129fs*5(1)|p.R130?(1)|p.R130fs*2(1)	endometrium(125)|central_nervous_system(37)|prostate(21)|ovary(10)|lung(9)|skin(6)|haematopoietic_and_lymphoid_tissue(5)|breast(3)|cervix(2)|large_intestine(2)|soft_tissue(2)|thyroid(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM971273	PTEN	M	rs121909224	c.(388-390)Cga>Tga		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							141.0	131.0	134.0					10																	89692904		2203	4300	6503	SO:0001587	stop_gained	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692904C>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.388C>T	10.37:g.89692904C>T	ENSP00000361021:p.Arg130*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.R130*	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	4	1420	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	130		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.388C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	48	14.299622	0.99789	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.7685	18.7776	0.91918	0.0:1.0:0.0:0.0	.	.	.	.	X	130	.	.	R	+	1	2	PTEN	89682884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.527000	0.67123	2.411000	0.81874	0.655000	0.94253	CGA		0.403	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
OR51B2	79345	broad.mit.edu	37	11	5344773	5344773	+	Missense_Mutation	SNP	G	G	A	rs200357780		TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr11:5344773G>A	ENST00000328813.2	-	1	809	c.755C>T	c.(754-756)aCa>aTa	p.T252I	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	252						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCCATCACTGTAACATAGAA	0.393																																						uc001mao.1																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(754-756)aCa>aTa		Homo sapiens olfactory receptor, family 51, subfamily B, member 2 (OR51B2), mRNA.		G	ILE/THR	0,4402		0,0,2201	102.0	94.0	97.0		755	3.4	0.0	11		97	1,8593	1.2+/-3.3	0,1,4296	no	missense	OR51B2	NM_033180.4	89	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	252/313	5344773	1,12995	2201	4297	6498	SO:0001583	missense	79345				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5344773G>A	AF399503	CCDS31377.1	11p15.4	2012-08-09			ENSG00000184881	ENSG00000184881		"""GPCR / Class A : Olfactory receptors"""	14703	protein-coding gene	gene with protein product				OR51B1P			Standard	NM_033180		Approved		uc001mao.1	Q9Y5P1	OTTHUMG00000066682	ENST00000328813.2:c.755C>T	11.37:g.5344773G>A	ENSP00000327540:p.Thr252Ile					HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	p.T252I	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	810	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	252					Q96RD4	Missense_Mutation	SNP	ENST00000328813.2	37	c.755C>T	CCDS31377.1	.	.	.	.	.	.	.	.	.	.	G	9.487	1.099589	0.20552	0.0	1.16E-4	ENSG00000184881	ENST00000328813	T	0.00289	8.28	4.27	3.36	0.38483	GPCR, rhodopsin-like superfamily (1);	0.195332	0.24774	U	0.035710	T	0.00666	0.0022	M	0.89715	3.055	0.09310	N	1	D	0.54397	0.966	P	0.58928	0.848	T	0.19778	-1.0295	10	0.87932	D	0	.	10.8854	0.46964	0.0927:0.0:0.9073:0.0	.	252	Q9Y5P1	O51B2_HUMAN	I	252	ENSP00000327540:T252I	ENSP00000327540:T252I	T	-	2	0	OR51B2	5301349	0.431000	0.25546	0.005000	0.12908	0.001000	0.01503	3.992000	0.56980	1.047000	0.40274	0.638000	0.83543	ACA		0.393	OR51B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142983.1	NM_033180	
OR52D1	390066	broad.mit.edu	37	11	5510785	5510785	+	Silent	SNP	C	C	G			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr11:5510785C>G	ENST00000322641.5	+	1	871	c.849C>G	c.(847-849)ctC>ctG	p.L283L	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	283					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGCTAATCTCTATGTGCTGG	0.493																																						uc010qzg.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(847-849)ctC>ctG		Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA.							118.0	105.0	109.0					11																	5510785		2201	4297	6498	SO:0001819	synonymous_variant	390066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5510785C>G	BK004276	CCDS31384.1	11p15.4	2012-08-09			ENSG00000181609	ENSG00000181609		"""GPCR / Class A : Olfactory receptors"""	15212	protein-coding gene	gene with protein product							Standard	NM_001005163		Approved		uc010qzg.2	Q9H346	OTTHUMG00000066895	ENST00000322641.5:c.849C>G	11.37:g.5510785C>G						HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	p.L283L	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	871	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	283					B9EGY9|Q6IFI6	Silent	SNP	ENST00000322641.5	37	c.849C>G	CCDS31384.1																																																																																				0.493	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143372.1	NM_001005163	
SLC17A6	57084	broad.mit.edu	37	11	22363249	22363249	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr11:22363249C>A	ENST00000263160.3	+	2	699	c.262C>A	c.(262-264)Cgc>Agc	p.R88S		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	88					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CTTCGGTATCCGCTGCAACCT	0.642																																						uc001mqk.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						c.(262-264)Cgc>Agc		Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.							74.0	61.0	65.0					11																	22363249		2203	4300	6503	SO:0001583	missense	57084				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr11:22363249C>A	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.262C>A	11.37:g.22363249C>A	ENSP00000263160:p.Arg88Ser						p.R88S	NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN			1	675	+			88					A6NKS2	Missense_Mutation	SNP	ENST00000263160.3	37	c.262C>A	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	C	35	5.576665	0.96565	.	.	ENSG00000091664	ENST00000263160	T	0.60040	0.22	5.86	5.86	0.93980	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.84786	0.5549	H	0.96015	3.755	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.88780	0.3270	10	0.87932	D	0	.	20.1986	0.98248	0.0:1.0:0.0:0.0	.	88	Q9P2U8	VGLU2_HUMAN	S	88	ENSP00000263160:R88S	ENSP00000263160:R88S	R	+	1	0	SLC17A6	22319825	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.781000	0.95711	0.650000	0.86243	CGC		0.642	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346	
CD5	921	broad.mit.edu	37	11	60885944	60885944	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr11:60885944C>A	ENST00000347785.3	+	3	558	c.392C>A	c.(391-393)aCc>aAc	p.T131N		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	131	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic signaling pathway (GO:0097190)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CTGGGCCTGACCTGCTTAGGT	0.607																																						uc009ynk.3																			0				central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(391-393)aCc>aAc		Homo sapiens CD5 molecule (CD5), mRNA.							101.0	95.0	97.0					11																	60885944		2203	4299	6502	SO:0001583	missense	921				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity	g.chr11:60885944C>A	X04391	CCDS8000.1	11q13	2008-07-18	2006-03-28		ENSG00000110448	ENSG00000110448		"""CD molecules"""	1685	protein-coding gene	gene with protein product		153340	"""CD5 antigen (p56-62)"""	LEU1		1711157	Standard	NM_014207		Approved	T1	uc009ynk.3	P06127	OTTHUMG00000167825	ENST00000347785.3:c.392C>A	11.37:g.60885944C>A	ENSP00000342681:p.Thr131Asn						p.T131N	NM_014207	NP_055022	P06127	CD5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)	2	495	+		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)	131			SRCR 1.		A0N0P4|A8K9I3	Missense_Mutation	SNP	ENST00000347785.3	37	c.392C>A	CCDS8000.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.516197	0.27123	.	.	ENSG00000110448	ENST00000347785;ENST00000544014	T;T	0.37058	1.22;1.22	3.85	2.63	0.31362	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.005840	0.08000	N	0.988657	T	0.30854	0.0778	N	0.14661	0.345	0.26550	N	0.973934	P	0.44578	0.838	P	0.50082	0.63	T	0.22068	-1.0227	10	0.62326	D	0.03	-12.4868	5.945	0.19213	0.0:0.1193:0.0:0.8807	.	131	P06127	CD5_HUMAN	N	131	ENSP00000342681:T131N;ENSP00000440899:T131N	ENSP00000342681:T131N	T	+	2	0	CD5	60642520	0.874000	0.30092	0.949000	0.38748	0.186000	0.23388	0.976000	0.29462	0.830000	0.34757	-0.290000	0.09829	ACC		0.607	CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396465.2	NM_014207	
OR2AT4	341152	broad.mit.edu	37	11	74799893	74799893	+	Missense_Mutation	SNP	A	A	T			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr11:74799893A>T	ENST00000305159.3	-	1	906	c.866T>A	c.(865-867)aTt>aAt	p.I289N		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	289						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						GGGGTTGAGAATTGGTGTGAG	0.488																																						uc010rro.2																			0				endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						c.(865-867)aTt>aAt		Homo sapiens olfactory receptor, family 2, subfamily AT, member 4 (OR2AT4), mRNA.							152.0	132.0	139.0					11																	74799893		2200	4293	6493	SO:0001583	missense	341152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:74799893A>T	BK004820	CCDS31639.1	11q13.4	2012-08-09			ENSG00000171561	ENSG00000171561		"""GPCR / Class A : Olfactory receptors"""	19620	protein-coding gene	gene with protein product							Standard	NM_001005285		Approved		uc010rro.2	A6NND4	OTTHUMG00000165370	ENST00000305159.3:c.866T>A	11.37:g.74799893A>T	ENSP00000304846:p.Ile289Asn						p.I289N	NM_001005285	NP_001005285	A6NND4	O2AT4_HUMAN			0	866	-			289					B9EGZ8	Missense_Mutation	SNP	ENST00000305159.3	37	c.866T>A	CCDS31639.1	.	.	.	.	.	.	.	.	.	.	A	15.69	2.908506	0.52333	.	.	ENSG00000171561	ENST00000305159	T	0.38560	1.13	5.09	3.96	0.45880	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.40372	0.1114	L	0.38175	1.15	0.09310	N	1	P	0.45428	0.858	P	0.48114	0.567	T	0.23476	-1.0187	9	0.87932	D	0	.	8.5703	0.33565	0.9083:0.0:0.0917:0.0	.	289	A6NND4	O2AT4_HUMAN	N	289	ENSP00000304846:I289N	ENSP00000304846:I289N	I	-	2	0	OR2AT4	74477541	0.025000	0.19082	0.887000	0.34795	0.966000	0.64601	2.885000	0.48570	2.038000	0.60285	0.533000	0.62120	ATT		0.488	OR2AT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383734.1	NM_001005285	
KMT2A	4297	broad.mit.edu	37	11	118382698	118382698	+	Missense_Mutation	SNP	G	G	C			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr11:118382698G>C	ENST00000389506.5	+	31	11095	c.11095G>C	c.(11095-11097)Gaa>Caa	p.E3699Q	KMT2A_ENST00000534358.1_Missense_Mutation_p.E3702Q|RP11-770J1.3_ENST00000532597.1_RNA|KMT2A_ENST00000354520.4_Missense_Mutation_p.E3661Q			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3699	FYR C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00876}.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TAAAGTCCAGGAAGCTCGATC	0.418																																						uc001pta.3										"""T, O"""					"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""		"""AML, ALL"""		0				breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131						c.(11095-11097)Gaa>Caa		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.							104.0	97.0	100.0					11																	118382698		2200	4295	6495	SO:0001583	missense	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118382698G>C	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.11095G>C	11.37:g.118382698G>C	ENSP00000374157:p.Glu3699Gln					MLL_uc001ptb.3_Missense_Mutation_p.E3702Q	p.E3699Q	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	30	11118	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	3699			FYR C-terminal.		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.11095G>C	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160512	0.78226	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	T;T;T	0.46819	0.86;0.86;0.86	5.57	5.57	0.84162	FY-rich, C-terminal (1);FY-rich, C-terminal subgroup (1);	0.000000	0.85682	D	0.000000	T	0.68495	0.3007	M	0.62016	1.91	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.69829	-0.5039	10	0.72032	D	0.01	.	19.5603	0.95369	0.0:0.0:1.0:0.0	.	3702;3699	E9PQG7;Q03164	.;MLL1_HUMAN	Q	3702;3699;3661;2609	ENSP00000436786:E3702Q;ENSP00000374157:E3699Q;ENSP00000346516:E3661Q	ENSP00000346516:E3661Q	E	+	1	0	MLL	117887908	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.411000	0.80078	2.637000	0.89404	0.650000	0.86243	GAA		0.418	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933	
Unknown	0	broad.mit.edu	37	11	124095935	124095935	+	IGR	SNP	T	T	C			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr11:124095935T>C								OR10D3 (38983 upstream) : OR8G1 (24487 downstream)																							GTTGAGACTCTTTTTGTGCAA	0.428																																						uc010saf.2																			0											c.(538-540)Ttt>Ctt		Homo sapiens olfactory receptor, family 8, subfamily G, member 2 (OR8G2), mRNA.							260.0	267.0	265.0					11																	124095935		2001	4210	6211	SO:0001628	intergenic_variant	26492					integral to membrane	olfactory receptor activity	g.chr11:124095935T>C																													11.37:g.124095935T>C							p.F180L	NM_001007249	NP_001007250	Q8N0Y1	Q8N0Y1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)	0	538	+		Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	180						Missense_Mutation	SNP		37	c.538T>C																																																																																				0	0.428								
RPL13AP20	387841	broad.mit.edu	37	12	13028751	13028751	+	IGR	SNP	G	G	C	rs199863259		TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr12:13028751G>C								DDX47 (45836 upstream) : GPRC5A (14964 downstream)																							GGTGTTTGACGGCATCCCACC	0.612																																						uc010sho.2																			0											c.(319-321)Ggc>Cgc		Homo sapiens ribosomal protein L13a pseudogene 20 (RPL13AP20), non-coding RNA.																																				SO:0001628	intergenic_variant	387841							g.chr12:13028751G>C																													12.37:g.13028751G>C							p.G107R							0	341	+									Missense_Mutation	SNP		37	c.319G>C																																																																																				0	0.612								
ERP27	121506	broad.mit.edu	37	12	15073953	15073953	+	Silent	SNP	G	G	A	rs199978046	byFrequency	TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr12:15073953G>A	ENST00000266397.2	-	4	936	c.363C>T	c.(361-363)gaC>gaT	p.D121D	ERP27_ENST00000540097.1_Silent_p.D20D	NM_152321.2	NP_689534.1	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27	121	Thioredoxin.					endoplasmic reticulum (GO:0005783)				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						CAATGTCTTCGTCCTCTAAAT	0.378													G|||	3	0.000599042	0.0	0.0	5008	,	,		20609	0.001		0.0	False		,,,				2504	0.002					uc001rco.3																			0				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						c.(361-363)gaC>gaT		Homo sapiens endoplasmic reticulum protein 27 (ERP27), mRNA.		G		0,4406		0,0,2203	261.0	224.0	237.0		363	-9.4	0.0	12		237	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ERP27	NM_152321.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		121/274	15073953	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	121506					endoplasmic reticulum lumen		g.chr12:15073953G>A	AK056677	CCDS8670.1, CCDS73450.1	12p12.3	2011-10-19	2009-02-23	2007-03-26	ENSG00000139055	ENSG00000139055		"""Protein disulfide isomerases"""	26495	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 8"""	610642	"""chromosome 12 open reading frame 46"", ""endoplasmic reticulum protein 27 kDa"""	C12orf46		12975309, 16940051	Standard	XM_005253303		Approved	FLJ32115, ERp27, PDIA8	uc001rco.3	Q96DN0	OTTHUMG00000168741	ENST00000266397.2:c.363C>T	12.37:g.15073953G>A							p.D121D	NM_152321	NP_689534	Q96DN0	ERP27_HUMAN			3	384	-			121			Thioredoxin.			Silent	SNP	ENST00000266397.2	37	c.363C>T	CCDS8670.1																																																																																				0.378	ERP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400868.1	NM_152321	
SLCO1B7	338821	broad.mit.edu	37	12	21175884	21175884	+	Silent	SNP	T	T	C			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr12:21175884T>C	ENST00000421593.2	+	4	441	c.441T>C	c.(439-441)tcT>tcC	p.S147S	LST3_ENST00000381541.3_Silent_p.S194S|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Silent_p.S194S|LST3_ENST00000540229.1_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TGGGGATTTCTTACATTGATG	0.383																																						uc010sil.2																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63								Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.							121.0	119.0	120.0					12																	21175884		2203	4299	6502	SO:0001819	synonymous_variant	338821				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21175884T>C	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.441T>C	12.37:g.21175884T>C						SLCO1B3_uc010sim.2_Silent_p.S194S|SLCO1B3_uc010sin.2_Silent_p.S147S				Q9NPD5	SO1B3_HUMAN					+	Esophageal squamous(101;0.149)							Q71QF0	Silent	SNP	ENST00000421593.2	37		CCDS44843.1																																																																																				0.383	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562	
ABCD2	225	broad.mit.edu	37	12	40012546	40012546	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr12:40012546T>C	ENST00000308666.3	-	1	1007	c.872A>G	c.(871-873)tAt>tGt	p.Y291C		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	291	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						ATACCGCAAATAGCCTTTTCT	0.413																																						uc001rmb.2																			0		p.G290G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						c.(871-873)tAt>tGt		Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA.							122.0	118.0	120.0					12																	40012546		2203	4300	6503	SO:0001583	missense	225				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	g.chr12:40012546T>C	U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"""ATP binding cassette transporters / subfamily D"""	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.872A>G	12.37:g.40012546T>C	ENSP00000310688:p.Tyr291Cys						p.Y291C	NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN			0	1298	-			291			ABC transmembrane type-1.		B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	ENST00000308666.3	37	c.872A>G	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	T	11.87	1.767117	0.31320	.	.	ENSG00000173208	ENST00000308666	D	0.99607	-6.27	5.52	5.52	0.82312	ABC transporter, N-terminal (1);ABC transporter, integral membrane type 1 (1);	0.062950	0.64402	D	0.000003	D	0.98975	0.9651	M	0.78916	2.43	0.48185	D	0.999606	B	0.24426	0.103	B	0.27076	0.076	D	0.99971	1.2007	9	.	.	.	-13.0921	15.6346	0.76941	0.0:0.0:0.0:1.0	.	291	Q9UBJ2	ABCD2_HUMAN	C	291	ENSP00000310688:Y291C	.	Y	-	2	0	ABCD2	38298813	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	3.758000	0.55220	2.093000	0.63338	0.460000	0.39030	TAT		0.413	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164	
AMHR2	269	broad.mit.edu	37	12	53823327	53823327	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr12:53823327G>A	ENST00000257863.4	+	8	1138	c.1058G>A	c.(1057-1059)gGc>gAc	p.G353D	AMHR2_ENST00000550311.1_Missense_Mutation_p.G353D|AMHR2_ENST00000379791.3_Missense_Mutation_p.G353D	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	353	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	GGAGACCTGGGCCTTGCCTTG	0.572																																						uc001scx.2																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34						c.(1057-1059)gGc>gAc		Homo sapiens anti-Mullerian hormone receptor, type II (AMHR2), transcript variant 1, mRNA.	Adenosine triphosphate(DB00171)						104.0	92.0	96.0					12																	53823327		2203	4300	6503	SO:0001583	missense	269				Mullerian duct regression		ATP binding|hormone binding|metal ion binding	g.chr12:53823327G>A	AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"""Muellerian inhibiting substance type II receptor"""	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.1058G>A	12.37:g.53823327G>A	ENSP00000257863:p.Gly353Asp					AMHR2_uc009zmy.2_Missense_Mutation_p.G353D|AMHR2_uc021qyg.1_Missense_Mutation_p.G353D	p.G353D	NM_020547	NP_065434	Q16671	AMHR2_HUMAN			7	1138	+			353			Protein kinase.		A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Missense_Mutation	SNP	ENST00000257863.4	37	c.1058G>A	CCDS8858.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520332	0.85495	.	.	ENSG00000135409	ENST00000257863;ENST00000550311;ENST00000379791	D;D;D	0.99527	-6.09;-6.09;-6.09	4.99	4.99	0.66335	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.40302	N	0.001140	D	0.99573	0.9846	M	0.91872	3.25	0.51012	D	0.999903	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97948	1.0330	10	0.87932	D	0	.	13.98	0.64299	0.0:0.0:1.0:0.0	.	353;353	F8W1D2;Q16671	.;AMHR2_HUMAN	D	353	ENSP00000257863:G353D;ENSP00000446661:G353D;ENSP00000369117:G353D	ENSP00000257863:G353D	G	+	2	0	AMHR2	52109594	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.447000	0.80620	2.769000	0.95229	0.563000	0.77884	GGC		0.572	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	NM_020547	
LUM	4060	broad.mit.edu	37	12	91497971	91497971	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr12:91497971G>A	ENST00000266718.4	-	3	1442	c.988C>T	c.(988-990)Cgt>Tgt	p.R330C	LUM_ENST00000548071.1_5'UTR	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	330					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TTAGCAACACGTAGACATTCA	0.383																																						uc001tbm.3																			0		p.R330H(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						c.(988-990)Cgt>Tgt		Homo sapiens lumican (LUM), mRNA.							114.0	108.0	110.0					12																	91497971		2203	4300	6503	SO:0001583	missense	4060				collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	g.chr12:91497971G>A	BT006707	CCDS9038.1	12q21.33	2014-06-13			ENSG00000139329			"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6724	protein-coding gene	gene with protein product	"""lumican proteoglycan"""	600616		LDC		7558030	Standard	NM_002345		Approved	SLRR2D	uc001tbm.3	P51884	OTTHUMG00000170074	ENST00000266718.4:c.988C>T	12.37:g.91497971G>A	ENSP00000266718:p.Arg330Cys						p.R330C	NM_002345	NP_002336	P51884	LUM_HUMAN			2	1377	-			330					B2R6R5|Q96QM7	Missense_Mutation	SNP	ENST00000266718.4	37	c.988C>T	CCDS9038.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.329075	0.81690	.	.	ENSG00000139329	ENST00000266718	T	0.20200	2.09	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.41558	0.1164	M	0.78456	2.415	0.80722	D	1	D	0.62365	0.991	P	0.52957	0.714	T	0.45026	-0.9289	10	0.66056	D	0.02	-17.5142	18.291	0.90130	0.0:0.0:1.0:0.0	.	330	P51884	LUM_HUMAN	C	330	ENSP00000266718:R330C	ENSP00000266718:R330C	R	-	1	0	LUM	90022102	1.000000	0.71417	0.996000	0.52242	0.648000	0.38561	6.883000	0.75595	2.394000	0.81467	0.585000	0.79938	CGT		0.383	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407150.2	NM_002345	
CORO1C	23603	broad.mit.edu	37	12	109052586	109052586	+	Silent	SNP	G	G	C			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr12:109052586G>C	ENST00000261401.3	-	5	730	c.558C>G	c.(556-558)ggC>ggG	p.G186G	CORO1C_ENST00000549384.1_Intron|CORO1C_ENST00000420959.2_Silent_p.G239G|CORO1C_ENST00000541050.1_Silent_p.G186G|CORO1C_ENST00000549772.1_Silent_p.G192G|CORO1C_ENST00000421578.2_Silent_p.G81G	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	186					actin cytoskeleton organization (GO:0030036)|phagocytosis (GO:0006909)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						AGATCAGACTGCCATTCCGGT	0.433																																						uc009zva.3																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						c.(715-717)ggC>ggG		Homo sapiens coronin, actin binding protein, 1C (CORO1C), transcript variant 1, mRNA.							213.0	187.0	196.0					12																	109052586		2203	4300	6503	SO:0001819	synonymous_variant	23603				actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding	g.chr12:109052586G>C	BC002342	CCDS9120.1, CCDS61236.1	12q24.1	2013-01-10	2001-11-28			ENSG00000110880		"""Coronins"", ""WD repeat domain containing"""	2254	protein-coding gene	gene with protein product		605269	"""coronin, actin-binding protein, 1C"""			9778037, 10461187	Standard	NM_014325		Approved	coronin-3, HCRNN4	uc009zva.4	Q9ULV4		ENST00000261401.3:c.558C>G	12.37:g.109052586G>C						CORO1C_uc001tnj.3_Silent_p.G186G|CORO1C_uc010sxf.2_Silent_p.G149G	p.G239G	NM_014325	NP_055140	Q9ULV4	COR1C_HUMAN			4	766	-			186					A7MAP0|A7MAP1|B3KU12|Q9NSK5	Silent	SNP	ENST00000261401.3	37	c.717C>G	CCDS9120.1																																																																																				0.433	CORO1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403802.1	NM_014325	
TRPV4	59341	broad.mit.edu	37	12	110226433	110226433	+	Silent	SNP	G	G	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr12:110226433G>A	ENST00000418703.2	-	12	2074	c.1980C>T	c.(1978-1980)tgC>tgT	p.C660C	TRPV4_ENST00000537083.1_Silent_p.C600C|TRPV4_ENST00000536838.1_Silent_p.C626C|TRPV4_ENST00000346520.2_Silent_p.C600C|TRPV4_ENST00000541794.1_Silent_p.C613C|TRPV4_ENST00000544971.1_Silent_p.C553C|TRPV4_ENST00000392719.2_Silent_p.C613C|TRPV4_ENST00000261740.2_Silent_p.C660C	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	660					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)	p.C660C(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CGCTGTCACGGCACGAGGGGT	0.597																																						uc001tpj.2																			1	Substitution - coding silent(1)	p.C660C(2)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						c.(1978-1980)tgC>tgT		Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.							236.0	168.0	191.0					12																	110226433		2203	4300	6503	SO:0001819	synonymous_variant	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110226433G>A	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.1980C>T	12.37:g.110226433G>A						TRPV4_uc001tpg.2_Silent_p.C626C|TRPV4_uc021rdp.1_Silent_p.C600C|TRPV4_uc001tph.2_Silent_p.C613C|TRPV4_uc001tpi.2_Silent_p.C553C|TRPV4_uc001tpk.2_Silent_p.C660C	p.C660C	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN			11	2075	-			660					B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Silent	SNP	ENST00000418703.2	37	c.1980C>T	CCDS9134.1																																																																																				0.597	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625	
TRPV4	59341	broad.mit.edu	37	12	110238470	110238470	+	Missense_Mutation	SNP	C	C	T	rs267607144		TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr12:110238470C>T	ENST00000418703.2	-	4	900	c.806G>A	c.(805-807)cGt>cAt	p.R269H	TRPV4_ENST00000537083.1_Missense_Mutation_p.R269H|TRPV4_ENST00000536838.1_Missense_Mutation_p.R235H|TRPV4_ENST00000346520.2_Missense_Mutation_p.R269H|TRPV4_ENST00000541794.1_Intron|TRPV4_ENST00000544971.1_Intron|TRPV4_ENST00000392719.2_Intron|TRPV4_ENST00000261740.2_Missense_Mutation_p.R269H	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	269			R -> C (in CMT2C). {ECO:0000269|PubMed:20037586}.|R -> H (in DSMAC and CMT2C; increased agonist-induced channel activity and increased basal intracellular calcium concentration; causes increased cell death). {ECO:0000269|PubMed:20037586, ECO:0000269|PubMed:20037587, ECO:0000269|PubMed:20037588}.		actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GAAGCGCCCACGGGCCTGGGC	0.632																																						uc001tpj.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						c.(805-807)cGt>cAt		Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.							66.0	55.0	59.0					12																	110238470		2203	4300	6503	SO:0001583	missense	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110238470C>T	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.806G>A	12.37:g.110238470C>T	ENSP00000406191:p.Arg269His					TRPV4_uc001tpg.2_Missense_Mutation_p.R235H|TRPV4_uc021rdp.1_Missense_Mutation_p.R269H|TRPV4_uc001tph.2_Intron|TRPV4_uc001tpi.2_Intron|TRPV4_uc001tpk.2_Missense_Mutation_p.R269H	p.R269H	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN			3	901	-			269		R -> C (in CMT2C).|R -> H (in CMT2C and DSMAC).			B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	c.806G>A	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.553517	0.65425	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000346520;ENST00000537083;ENST00000536838	D;D;D;D;D	0.89681	-2.5;-2.5;-2.55;-2.55;-2.49	4.92	4.92	0.64577	Ankyrin repeat-containing domain (3);	0.098346	0.64402	D	0.000004	D	0.90212	0.6940	L	0.34521	1.04	0.39990	D	0.975027	D;D;B	0.89917	1.0;0.999;0.032	D;D;B	0.70716	0.97;0.963;0.012	D	0.87165	0.2217	10	0.15066	T	0.55	-16.6531	17.0872	0.86614	0.0:1.0:0.0:0.0	.	269;269;235	Q9HBA0-2;Q9HBA0;Q9HBA0-5	.;TRPV4_HUMAN;.	H	269;269;269;269;235	ENSP00000406191:R269H;ENSP00000261740:R269H;ENSP00000319003:R269H;ENSP00000442738:R269H;ENSP00000444336:R235H	ENSP00000261740:R269H	R	-	2	0	TRPV4	108722853	0.434000	0.25570	0.954000	0.39281	0.973000	0.67179	2.420000	0.44679	2.445000	0.82738	0.655000	0.94253	CGT		0.632	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625	
RB1	5925	broad.mit.edu	37	13	48951053	48951053	+	Splice_Site	SNP	G	G	C	rs587778831		TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr13:48951053G>C	ENST00000267163.4	+	13	1353		c.e13-1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	ACCTCCTAAAGAACTGCACAG	0.318		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.3		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		26	Whole gene deletion(15)|Unknown(11)	p.0?(15)|p.?(11)	bone(11)|breast(5)|central_nervous_system(2)|lung(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|ovary(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496	GRCh37	CS971888	RB1	S		c.e13-1		Homo sapiens retinoblastoma 1 (RB1), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						83.0	90.0	88.0					13																	48951053		2203	4300	6503	SO:0001630	splice_region_variant	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48951053G>C	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1216-1G>C	13.37:g.48951053G>C		TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				RB1_uc010act.1_Splice_Site_p.N107_splice	p.N406_splice	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	13	1382	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	406			Domain A.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Splice_Site	SNP	ENST00000267163.4	37	c.1216_splice	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942494	0.73672	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3495	0.98807	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RB1	47849054	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	8.600000	0.90860	2.814000	0.96858	0.591000	0.81541	.		0.318	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		Intron
LEO1	123169	broad.mit.edu	37	15	52258194	52258194	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr15:52258194T>C	ENST00000299601.5	-	2	626	c.566A>G	c.(565-567)gAt>gGt	p.D189G	LEO1_ENST00000315141.5_Missense_Mutation_p.D189G	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	189	Asp-rich.				endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		CTCCTCATCATCTGTGTTCTG	0.433																																					Esophageal Squamous(40;229 896 18505 32465 43844)|Ovarian(53;886 1123 14462 18432 23189)	uc002abo.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14						c.(565-567)gAt>gGt		Homo sapiens Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (LEO1), mRNA.							268.0	261.0	263.0					15																	52258194		2195	4293	6488	SO:0001583	missense	123169				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr15:52258194T>C	AY302186	CCDS10146.1, CCDS66767.1	15q21.2	2008-02-05			ENSG00000166477	ENSG00000166477			30401	protein-coding gene	gene with protein product		610507				15632063	Standard	NM_001286430		Approved		uc002abo.3	Q8WVC0	OTTHUMG00000131843	ENST00000299601.5:c.566A>G	15.37:g.52258194T>C	ENSP00000299601:p.Asp189Gly					LEO1_uc010bfd.3_Missense_Mutation_p.D189G	p.D189G	NM_138792	NP_620147	Q8WVC0	LEO1_HUMAN		all cancers(107;0.00264)	1	582	-			189			Asp-rich.		Q96N99	Missense_Mutation	SNP	ENST00000299601.5	37	c.566A>G	CCDS10146.1	.	.	.	.	.	.	.	.	.	.	T	14.60	2.583322	0.46006	.	.	ENSG00000166477	ENST00000299601;ENST00000538386;ENST00000315141	.	.	.	5.46	5.46	0.80206	.	0.321794	0.33670	N	0.004668	T	0.63438	0.2511	N	0.24115	0.695	0.80722	D	1	B;D	0.63880	0.01;0.993	B;D	0.74674	0.015;0.984	T	0.64283	-0.6444	9	0.39692	T	0.17	.	15.5251	0.75898	0.0:0.0:0.0:1.0	.	189;189	Q8WVC0-2;Q8WVC0	.;LEO1_HUMAN	G	189	.	ENSP00000299601:D189G	D	-	2	0	LEO1	50045486	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	3.549000	0.53681	2.068000	0.61886	0.459000	0.35465	GAT		0.433	LEO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254791.2	NM_138792	
PDILT	204474	broad.mit.edu	37	16	20380898	20380898	+	Silent	SNP	G	G	A	rs150342728		TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr16:20380898G>A	ENST00000302451.4	-	8	1280	c.1032C>T	c.(1030-1032)gaC>gaT	p.D344D		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	344					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)	p.D344D(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TGTACCTGGCGTCAGAGCTCA	0.468													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20018	0.0		0.0	False		,,,				2504	0.0					uc002dhc.1																			1	Substitution - coding silent(1)	p.D344D(2)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						c.(1030-1032)gaC>gaT		Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.		G		4,4402	8.1+/-20.4	0,4,2199	195.0	190.0	191.0		1032	-3.7	0.0	16	dbSNP_134	191	9,8591	6.4+/-24.3	0,9,4291	no	coding-synonymous	PDILT	NM_174924.1		0,13,6490	AA,AG,GG		0.1047,0.0908,0.1		344/585	20380898	13,12993	2203	4300	6503	SO:0001819	synonymous_variant	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20380898G>A		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1032C>T	16.37:g.20380898G>A							p.D344D	NM_174924	NP_777584	Q8N807	PDILT_HUMAN			7	1255	-			344					Q8IVQ5	Silent	SNP	ENST00000302451.4	37	c.1032C>T	CCDS10584.1																																																																																				0.468	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924	
CHD9	80205	broad.mit.edu	37	16	53330872	53330872	+	Missense_Mutation	SNP	A	A	G			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr16:53330872A>G	ENST00000398510.3	+	29	5602	c.5515A>G	c.(5515-5517)Aca>Gca	p.T1839A	CHD9_ENST00000566029.1_Missense_Mutation_p.T1839A|CHD9_ENST00000447540.1_Missense_Mutation_p.T1839A|CHD9_ENST00000564845.1_Missense_Mutation_p.T1839A			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1839					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AAATAGATGGACAAGAAGAGA	0.299																																						uc002ehb.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(5515-5517)Aca>Gca		Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.							79.0	77.0	77.0					16																	53330872		1810	4072	5882	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53330872A>G	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.5515A>G	16.37:g.53330872A>G	ENSP00000381522:p.Thr1839Ala					CHD9_uc002egy.3_Missense_Mutation_p.T1839A|CHD9_uc002ehc.3_Missense_Mutation_p.T1839A|CHD9_uc002ehf.3_Missense_Mutation_p.T953A|CHD9_uc002ehg.2_Missense_Mutation_p.T953A|CHD9_uc010cbw.3_Missense_Mutation_p.T207A	p.T1839A	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN			28	5679	+		all_cancers(37;0.0212)	1839					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.5515A>G		.	.	.	.	.	.	.	.	.	.	A	23.0	4.363173	0.82353	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D;D	0.91407	-2.84;-2.84	4.95	4.95	0.65309	.	0.000000	0.56097	D	0.000023	D	0.95573	0.8561	M	0.86864	2.845	0.58432	D	0.999999	D;D;D;D	0.63880	0.993;0.993;0.984;0.99	D;D;D;D	0.73380	0.978;0.98;0.956;0.98	D	0.96318	0.9234	10	0.87932	D	0	-14.2477	14.5941	0.68392	1.0:0.0:0.0:0.0	.	207;1839;1839;1839	C9JR69;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	A	1839;1839;207	ENSP00000396345:T1839A;ENSP00000381522:T1839A	ENSP00000381522:T1839A	T	+	1	0	CHD9	51888373	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.281000	0.95811	1.867000	0.54127	0.397000	0.26171	ACA		0.299	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134	
ZFHX3	463	broad.mit.edu	37	16	72827367	72827367	+	Missense_Mutation	SNP	C	C	T	rs368568803		TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr16:72827367C>T	ENST00000268489.5	-	9	9886	c.9214G>A	c.(9214-9216)Gta>Ata	p.V3072I	ZFHX3_ENST00000397992.5_Missense_Mutation_p.V2158I|RP5-991G20.4_ENST00000569195.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3072					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AACTGACGTACGGTGGCTGGG	0.488																																						uc002fck.3																			0		p.T3071T(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(9214-9216)Gta>Ata		Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.		C	ILE/VAL,ILE/VAL	0,4396		0,0,2198	160.0	158.0	159.0		6472,9214	5.8	1.0	16		159	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ZFHX3	NM_001164766.1,NM_006885.3	29,29	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	2158/2790,3072/3704	72827367	1,12995	2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72827367C>T	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.9214G>A	16.37:g.72827367C>T	ENSP00000268489:p.Val3072Ile					ZFHX3_uc002fcl.3_Missense_Mutation_p.V2158I	p.V3072I	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			8	9887	-		Ovarian(137;0.13)	3072					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.9214G>A	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.168669	0.38315	0.0	1.16E-4	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.75938	-0.98;-0.95	5.78	5.78	0.91487	.	0.000000	0.45126	D	0.000397	D	0.84361	0.5455	L	0.55990	1.75	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.84029	0.0358	10	0.56958	D	0.05	.	20.0203	0.97492	0.0:1.0:0.0:0.0	.	3072	Q15911	ZFHX3_HUMAN	I	3072;2158	ENSP00000268489:V3072I;ENSP00000438926:V2158I	ENSP00000268489:V3072I	V	-	1	0	ZFHX3	71384868	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.730000	0.93505	0.655000	0.94253	GTA		0.488	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885	
ARHGAP44	9912	broad.mit.edu	37	17	12847456	12847456	+	Silent	SNP	C	C	T			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr17:12847456C>T	ENST00000379672.5	+	10	1104	c.804C>T	c.(802-804)atC>atT	p.I268I	ARHGAP44_ENST00000262444.9_Silent_p.I268I|ARHGAP44_ENST00000340825.3_Silent_p.I268I	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	268	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						GCCGGGAGATCGCCTTCCCCA	0.632																																						uc002gnr.4																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						c.(802-804)atC>atT		Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA.							47.0	57.0	54.0					17																	12847456		2114	4232	6346	SO:0001819	synonymous_variant	9912				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr17:12847456C>T		CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"""Rho GTPase activating proteins"""	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.804C>T	17.37:g.12847456C>T						ARHGAP44_uc010vvk.2_Silent_p.I268I|ARHGAP44_uc010vvl.2_Silent_p.I268I|ARHGAP44_uc002gns.4_Silent_p.I68I|ARHGAP44_uc010vvm.2_Silent_p.I268I|ARHGAP44_uc010vvn.2_Non-coding_Transcript|ARHGAP44_uc002gnt.1_5'UTR	p.I268I	NM_014859	NP_055674	Q17R89	RHG44_HUMAN			9	1131	+			268			Rho-GAP.		A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Silent	SNP	ENST00000379672.5	37	c.804C>T	CCDS45616.1																																																																																				0.632	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441566.1	NM_014859	
CPD	1362	broad.mit.edu	37	17	28770823	28770823	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr17:28770823C>A	ENST00000225719.4	+	11	2453	c.2377C>A	c.(2377-2379)Cat>Aat	p.H793N	CPD_ENST00000543464.2_Missense_Mutation_p.H546N	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	793	Carboxypeptidase-like 2.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						AATCCAGGTTCATCAGGGCGT	0.378																																						uc002hfb.2																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						c.(2377-2379)Cat>Aat		Homo sapiens carboxypeptidase D (CPD), transcript variant 1, mRNA.							117.0	115.0	116.0					17																	28770823		2203	4300	6503	SO:0001583	missense	1362				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	g.chr17:28770823C>A	U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"""metallocarboxypeptidase D"""	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.2377C>A	17.37:g.28770823C>A	ENSP00000225719:p.His793Asn					CPD_uc010wbo.2_Missense_Mutation_p.H546N|CPD_uc010wbp.2_Non-coding_Transcript	p.H793N	NM_001304	NP_001295	O75976	CBPD_HUMAN			10	2434	+			793			Carboxypeptidase-like 2.		B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Missense_Mutation	SNP	ENST00000225719.4	37	c.2377C>A	CCDS11257.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.079495	0.76528	.	.	ENSG00000108582	ENST00000225719;ENST00000543464	T;T	0.03580	3.88;3.88	5.92	5.92	0.95590	Peptidase M14, carboxypeptidase A (1);	0.088363	0.85682	D	0.000000	T	0.14270	0.0345	M	0.87827	2.91	0.80722	D	1	B;B	0.31769	0.003;0.339	B;B	0.40982	0.02;0.345	T	0.00152	-1.1983	10	0.87932	D	0	-26.1428	17.4859	0.87688	0.0:1.0:0.0:0.0	.	546;793	F5GZH6;O75976	.;CBPD_HUMAN	N	793;546	ENSP00000225719:H793N;ENSP00000444443:H546N	ENSP00000225719:H793N	H	+	1	0	CPD	25794949	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.877000	0.75562	2.810000	0.96702	0.585000	0.79938	CAT		0.378	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3	NM_001304	
CPD	1362	broad.mit.edu	37	17	28770972	28770972	+	Missense_Mutation	SNP	C	C	G			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr17:28770972C>G	ENST00000225719.4	+	11	2602	c.2526C>G	c.(2524-2526)atC>atG	p.I842M	CPD_ENST00000543464.2_Missense_Mutation_p.I595M	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	842	Carboxypeptidase-like 2.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						CTTATAAAATCACAGCATCTG	0.423																																						uc002hfb.2																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						c.(2524-2526)atC>atG		Homo sapiens carboxypeptidase D (CPD), transcript variant 1, mRNA.							145.0	145.0	145.0					17																	28770972		2203	4300	6503	SO:0001583	missense	1362				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	g.chr17:28770972C>G	U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"""metallocarboxypeptidase D"""	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.2526C>G	17.37:g.28770972C>G	ENSP00000225719:p.Ile842Met					CPD_uc010wbo.2_Missense_Mutation_p.I595M|CPD_uc010wbp.2_Non-coding_Transcript	p.I842M	NM_001304	NP_001295	O75976	CBPD_HUMAN			10	2583	+			842			Carboxypeptidase-like 2.		B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Missense_Mutation	SNP	ENST00000225719.4	37	c.2526C>G	CCDS11257.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.127282	0.37533	.	.	ENSG00000108582	ENST00000225719;ENST00000543464	T;T	0.48201	0.82;0.82	5.62	5.62	0.85841	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.157660	0.64402	D	0.000020	T	0.58250	0.2109	M	0.82923	2.615	0.42923	D	0.994295	B;B	0.33044	0.395;0.237	B;B	0.37387	0.248;0.196	T	0.63945	-0.6522	10	0.87932	D	0	.	17.1881	0.86872	0.0:1.0:0.0:0.0	.	595;842	F5GZH6;O75976	.;CBPD_HUMAN	M	842;595	ENSP00000225719:I842M;ENSP00000444443:I595M	ENSP00000225719:I842M	I	+	3	3	CPD	25795098	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.093000	0.57714	2.810000	0.96702	0.585000	0.79938	ATC		0.423	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3	NM_001304	
SLC4A1	6521	broad.mit.edu	37	17	42337808	42337808	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr17:42337808C>T	ENST00000262418.6	-	6	604	c.449G>A	c.(448-450)cGa>cAa	p.R150Q	SLC4A1_ENST00000471005.1_5'UTR|AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	150	Globular.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CAGCTCCTCTCGGTCCTGAGG	0.607																																						uc002igf.4																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40						c.(448-450)cGa>cAa		Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.							49.0	47.0	48.0					17																	42337808		2203	4300	6503	SO:0001583	missense	6521				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	g.chr17:42337808C>T		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.449G>A	17.37:g.42337808C>T	ENSP00000262418:p.Arg150Gln					SLC4A1_uc021tyc.1_Missense_Mutation_p.R150Q	p.R150Q	NM_000342	NP_000333	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	5	598	-		Breast(137;0.014)|Prostate(33;0.0181)	150					G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Missense_Mutation	SNP	ENST00000262418.6	37	c.449G>A	CCDS11481.1	.	.	.	.	.	.	.	.	.	.	c	26.4	4.731705	0.89390	.	.	ENSG00000004939	ENST00000262418	T	0.72505	-0.66	5.38	4.41	0.53225	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.128403	0.46145	N	0.000305	T	0.70072	0.3182	M	0.76433	2.335	0.54753	D	0.999981	D;P	0.54207	0.965;0.952	B;B	0.42062	0.28;0.374	T	0.74284	-0.3715	10	0.54805	T	0.06	.	13.0427	0.58908	0.0:0.9208:0.0:0.0792	.	150;150	E2RVJ0;P02730	.;B3AT_HUMAN	Q	150	ENSP00000262418:R150Q	ENSP00000262418:R150Q	R	-	2	0	SLC4A1	39693334	0.996000	0.38824	0.988000	0.46212	0.734000	0.41952	3.355000	0.52262	1.281000	0.44480	0.462000	0.41574	CGA		0.607	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342	
GJC1	10052	broad.mit.edu	37	17	42882259	42882259	+	Silent	SNP	G	G	T	rs138440006		TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr17:42882259G>T	ENST00000426548.1	-	3	1196	c.927C>A	c.(925-927)atC>atA	p.I309I	GJC1_ENST00000590758.1_Silent_p.I309I|GJC1_ENST00000592524.1_Silent_p.I309I|GJC1_ENST00000330514.4_Silent_p.I309I	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	309					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle tissue development (GO:0048738)|cell development (GO:0048468)|cell-cell junction assembly (GO:0007043)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vasculogenesis (GO:0001570)|visual perception (GO:0007601)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion channel activity (GO:0005216)			NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				GCTTGTAGGCGATCTTAGCAT	0.507																																						uc002ihj.3																			0				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19						c.(925-927)atC>atA		Homo sapiens gap junction protein, gamma 1, 45kDa (GJC1), transcript variant 1, mRNA.							228.0	212.0	217.0					17																	42882259		2203	4300	6503	SO:0001819	synonymous_variant	10052				cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane		g.chr17:42882259G>T	U03493	CCDS11487.1	17q21.31	2008-02-04	2007-11-06	2007-11-06		ENSG00000182963		"""Ion channels / Gap junction proteins (connexins)"""	4280	protein-coding gene	gene with protein product	"""connexin 45"""	608655	"""gap junction protein, alpha 7, 45kDa"""	GJA7		7966354	Standard	NM_005497		Approved	CX45	uc002ihl.3	P36383		ENST00000426548.1:c.927C>A	17.37:g.42882259G>T						GJC1_uc002ihk.3_Silent_p.I309I|GJC1_uc002ihl.3_Silent_p.I309I|GJC1_uc021tyf.1_Silent_p.I309I	p.I309I	NM_005497	NP_005488	P36383	CXG1_HUMAN			1	1438	-		Prostate(33;0.0959)	309					B3KW68|Q4VAY0	Silent	SNP	ENST00000426548.1	37	c.927C>A	CCDS11487.1																																																																																				0.507	GJC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448661.1	NM_005497	
FMNL1	752	broad.mit.edu	37	17	43322740	43322740	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr17:43322740C>T	ENST00000331495.3	+	22	3185	c.2849C>T	c.(2848-2850)tCg>tTg	p.S950L	MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|CTD-2020K17.4_ENST00000591361.1_RNA|FMNL1_ENST00000328118.3_Missense_Mutation_p.S950L|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|CTD-2020K17.4_ENST00000589518.1_RNA|FMNL1_ENST00000587489.1_Missense_Mutation_p.S528L|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|CTD-2020K17.4_ENST00000420431.2_RNA	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	950	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						AGGGCCAACTCGCCCACCATG	0.617																																					GBM(164;1247 1997 8702 11086 51972)	uc002iin.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						c.(2848-2850)tCg>tTg		Homo sapiens formin-like 1 (FMNL1), mRNA.							67.0	64.0	65.0					17																	43322740		2203	4300	6503	SO:0001583	missense	752				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr17:43322740C>T	AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"""formin-like"""	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.2849C>T	17.37:g.43322740C>T	ENSP00000329219:p.Ser950Leu					FMNL1_uc002iiq.3_Missense_Mutation_p.S528L|FMNL1_uc010dag.3_Non-coding_Transcript|FMNL1_uc021tyj.1_Missense_Mutation_p.S277L|LOC100133991_uc010dah.3_5'Flank	p.S950L	NM_005892	NP_005883	O95466	FMNL_HUMAN			21	3049	+			950			FH2.		D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Missense_Mutation	SNP	ENST00000331495.3	37	c.2849C>T	CCDS11497.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212824	0.58452	.	.	ENSG00000184922	ENST00000328118;ENST00000331495;ENST00000539884	T;T	0.18016	2.24;2.24	4.18	3.12	0.35913	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	1.072190	0.07182	N	0.854299	T	0.19287	0.0463	L	0.55017	1.72	0.21105	N	0.999789	P	0.44195	0.828	B	0.41917	0.37	T	0.14839	-1.0458	10	0.45353	T	0.12	.	7.1857	0.25799	0.0:0.7252:0.1755:0.0993	.	950	O95466	FMNL_HUMAN	L	950;950;605	ENSP00000327442:S950L;ENSP00000329219:S950L	ENSP00000327442:S950L	S	+	2	0	FMNL1	40678523	0.012000	0.17670	0.955000	0.39395	0.743000	0.42351	0.256000	0.18351	2.330000	0.79161	0.289000	0.19496	TCG		0.617	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1	NM_005892	
C17orf47	284083	broad.mit.edu	37	17	56621327	56621327	+	Missense_Mutation	SNP	T	T	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr17:56621327T>A	ENST00000321691.3	-	1	402	c.221A>T	c.(220-222)cAg>cTg	p.Q74L	RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	74										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGGTCCTGACTGGAGGGAGAC	0.567																																						uc002iwq.2																			0				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(220-222)cAg>cTg		Homo sapiens chromosome 17 open reading frame 47 (C17orf47), mRNA.							182.0	157.0	166.0					17																	56621327		2203	4300	6503	SO:0001583	missense	284083							g.chr17:56621327T>A		CCDS32691.1	17q23.2	2012-10-11			ENSG00000181013	ENSG00000181013			26844	protein-coding gene	gene with protein product							Standard	NM_001038704		Approved	FLJ40121	uc002iwq.2	Q8NEP4	OTTHUMG00000179244	ENST00000321691.3:c.221A>T	17.37:g.56621327T>A	ENSP00000354874:p.Gln74Leu						p.Q74L	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN			0	407	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		74					Q8N821	Missense_Mutation	SNP	ENST00000321691.3	37	c.221A>T	CCDS32691.1	.	.	.	.	.	.	.	.	.	.	T	13.47	2.246870	0.39697	.	.	ENSG00000181013	ENST00000321691	T	0.35605	1.3	5.52	-0.0048	0.14020	.	0.891913	0.09680	N	0.769866	T	0.32675	0.0837	L	0.32530	0.975	0.09310	N	1	B	0.33238	0.403	B	0.38842	0.283	T	0.41197	-0.9522	10	0.66056	D	0.02	0.0937	12.5541	0.56244	0.0:0.0:0.5643:0.4357	.	74	Q8NEP4	CQ047_HUMAN	L	74	ENSP00000354874:Q74L	ENSP00000354874:Q74L	Q	-	2	0	C17orf47	53976326	0.019000	0.18553	0.000000	0.03702	0.006000	0.05464	0.543000	0.23237	0.069000	0.16605	0.533000	0.62120	CAG		0.567	C17orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445443.1	NM_001038704	
USP32	84669	broad.mit.edu	37	17	58258719	58258719	+	Missense_Mutation	SNP	C	C	T	rs17405739		TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr17:58258719C>T	ENST00000300896.4	-	32	4708	c.4514G>A	c.(4513-4515)cGt>cAt	p.R1505H	USP32_ENST00000592339.1_Missense_Mutation_p.R1175H	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1505	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			AGGCTTAATACGAGTATCTTC	0.383													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20701	0.0		0.0	False		,,,				2504	0.0					uc002iyo.1																			0				NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62						c.(4513-4515)cGt>cAt		Homo sapiens ubiquitin specific peptidase 32 (USP32), mRNA.							116.0	110.0	112.0					17																	58258719		2203	4300	6503	SO:0001583	missense	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58258719C>T	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.4514G>A	17.37:g.58258719C>T	ENSP00000300896:p.Arg1505His					USP32_uc002iyn.1_Missense_Mutation_p.R1175H	p.R1505H	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		31	4800	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		1505					Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	c.4514G>A	CCDS32697.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	12.56	1.975765	0.34848	.	.	ENSG00000170832	ENST00000300896	T	0.45276	0.9	5.37	-1.06	0.10002	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.391486	0.34932	N	0.003573	T	0.27967	0.0689	.	.	.	0.19775	N	0.999959	B	0.02656	0.0	B	0.01281	0.0	T	0.16100	-1.0414	9	0.40728	T	0.16	.	10.6726	0.45768	0.0:0.6677:0.0:0.3323	rs17405739	1505	Q8NFA0	UBP32_HUMAN	H	1505	ENSP00000300896:R1505H	ENSP00000300896:R1505H	R	-	2	0	USP32	55613501	0.930000	0.31532	0.179000	0.23059	0.985000	0.73830	0.895000	0.28363	-0.397000	0.07691	0.555000	0.69702	CGT		0.383	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582	
GAA	2548	broad.mit.edu	37	17	78081639	78081639	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr17:78081639C>T	ENST00000302262.3	+	5	1118	c.899C>T	c.(898-900)gCg>gTg	p.A300V	GAA_ENST00000390015.3_Missense_Mutation_p.A300V	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	300					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	TTCTACCTGGCGCTGGAGGAC	0.697																																						uc002jxp.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(898-900)gCg>gTg		Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA.	Acarbose(DB00284)						28.0	31.0	30.0					17																	78081639		2199	4299	6498	SO:0001583	missense	2548				cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity	g.chr17:78081639C>T		CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"""Pompe disease"", ""glycogen storage disease type II"""	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.899C>T	17.37:g.78081639C>T	ENSP00000305692:p.Ala300Val					GAA_uc002jxo.3_Missense_Mutation_p.A300V|GAA_uc002jxq.3_Missense_Mutation_p.A300V	p.A300V	NM_000152	NP_001073272	P10253	LYAG_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		4	1266	+	all_neural(118;0.117)		300					Q09GN4|Q14351|Q16302|Q8IWE7	Missense_Mutation	SNP	ENST00000302262.3	37	c.899C>T	CCDS32760.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.830636	0.32329	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	D;D	0.85629	-2.01;-2.01	5.29	-8.6	0.00889	Glycoside hydrolase-type carbohydrate-binding (1);	0.867186	0.10208	N	0.702419	T	0.55862	0.1947	N	0.04275	-0.24	0.09310	N	0.999995	B	0.06786	0.001	B	0.06405	0.002	T	0.54296	-0.8315	10	0.10377	T	0.69	-16.4738	4.2898	0.10872	0.0816:0.1963:0.2372:0.485	.	300	P10253	LYAG_HUMAN	V	300	ENSP00000305692:A300V;ENSP00000374665:A300V	ENSP00000305692:A300V	A	+	2	0	GAA	75696234	0.003000	0.15002	0.007000	0.13788	0.912000	0.54170	0.024000	0.13555	-1.160000	0.02804	-0.137000	0.14449	GCG		0.697	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1		
MUC16	94025	broad.mit.edu	37	19	9056586	9056586	+	Missense_Mutation	SNP	G	G	T			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr19:9056586G>T	ENST00000397910.4	-	3	31063	c.30860C>A	c.(30859-30861)aCt>aAt	p.T10287N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10289	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCAAATGAAGTCATGGCCTC	0.493																																						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.(30859-30861)aCt>aAt		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							101.0	101.0	101.0					19																	9056586		2054	4203	6257	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9056586G>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.30860C>A	19.37:g.9056586G>T	ENSP00000381008:p.Thr10287Asn						p.T10287N	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			2	31064	-			10289			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.30860C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.909	0.351723	0.11182	.	.	ENSG00000181143	ENST00000397910	T	0.02525	4.26	3.28	-0.0683	0.13756	.	.	.	.	.	T	0.02571	0.0078	N	0.08118	0	.	.	.	D	0.64830	0.994	P	0.51866	0.682	T	0.47222	-0.9134	8	0.87932	D	0	.	5.4533	0.16576	0.3885:0.0:0.6115:0.0	.	10287	B5ME49	.	N	10287	ENSP00000381008:T10287N	ENSP00000381008:T10287N	T	-	2	0	MUC16	8917586	0.001000	0.12720	0.000000	0.03702	0.010000	0.07245	0.481000	0.22260	0.070000	0.16634	0.461000	0.40582	ACT		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
NR1H2	7376	broad.mit.edu	37	19	50882004	50882004	+	Frame_Shift_Del	DEL	C	C	-			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr19:50882004delC	ENST00000253727.5	+	6	933	c.698delC	c.(697-699)gccfs	p.A233fs	NR1H2_ENST00000542413.1_Frame_Shift_Del_p.A8fs|NR1H2_ENST00000411902.2_Frame_Shift_Del_p.A136fs|NR1H2_ENST00000599105.1_Frame_Shift_Del_p.A233fs|NR1H2_ENST00000598168.1_Frame_Shift_Del_p.A233fs|NR1H2_ENST00000593926.1_Frame_Shift_Del_p.A233fs	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	233	Ligand-binding. {ECO:0000255}.				cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		TTGGTGGCGGCCCAACTGCAG	0.612																																						uc010enw.3																			0		p.A232T(1)		endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8						c.(697-699)gccfs		Homo sapiens nuclear receptor subfamily 1, group H, member 2 (NR1H2), mRNA.							46.0	54.0	51.0					19																	50882004		2117	4230	6347	SO:0001589	frameshift_variant	7376				negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr19:50882004delC	U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"""Nuclear hormone receptors"""	7965	protein-coding gene	gene with protein product	"""liver X receptor-beta"""	600380	"""ubiquitously-expressed nuclear receptor"""	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000253727.5:c.698delC	19.37:g.50882004delC	ENSP00000253727:p.Ala233fs					NR1H2_uc002prv.4_Non-coding_Transcript|NR1H2_uc002psa.4_Frame_Shift_Del_p.A136fs	p.A233fs	NM_007121	NP_009052	P55055	NR1H2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)	5	1167	+		all_neural(266;0.057)	233			Ligand-binding (Potential).		A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	Frame_Shift_Del	DEL	ENST00000253727.5	37	c.698delC	CCDS42593.1																																																																																				0.612	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464724.2		
ADD2	119	broad.mit.edu	37	2	70890611	70890611	+	Missense_Mutation	SNP	G	G	C			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr2:70890611G>C	ENST00000264436.4	-	16	2571	c.2127C>G	c.(2125-2127)ttC>ttG	p.F709L	ADD2_ENST00000407644.2_Missense_Mutation_p.F709L	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	709	Interaction with calmodulin. {ECO:0000255}.				actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						AGGGGGTTCGGAATTTCTTTT	0.527																																						uc021vjc.1																			0				autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						c.(2125-2127)ttC>ttG		Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.							160.0	168.0	165.0					2																	70890611		2203	4300	6503	SO:0001583	missense	119				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	g.chr2:70890611G>C	X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.2127C>G	2.37:g.70890611G>C	ENSP00000264436:p.Phe709Leu					ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_3'UTR|ADD2_uc002sgz.3_Missense_Mutation_p.F709L	p.F709L	NM_001185054	NP_001608	P35612	ADDB_HUMAN			15	2392	-			709			Interaction with calmodulin (Potential).		A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	37	c.2127C>G	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142893	0.77888	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320	T;T	0.53423	0.62;0.62	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.60907	0.2305	L	0.47716	1.5	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.63070	-0.6719	10	0.87932	D	0	-22.8511	16.6543	0.85224	0.0:0.0:1.0:0.0	.	709	P35612	ADDB_HUMAN	L	709;709;460	ENSP00000264436:F709L;ENSP00000384677:F709L	ENSP00000264436:F709L	F	-	3	2	ADD2	70744119	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.955000	0.87856	2.592000	0.87571	0.655000	0.94253	TTC		0.527	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617	
CLASP1	23332	broad.mit.edu	37	2	122216417	122216417	+	Splice_Site	SNP	C	C	T			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr2:122216417C>T	ENST00000263710.4	-	13	1702	c.1313G>A	c.(1312-1314)cGg>cAg	p.R438Q	CLASP1_ENST00000541377.1_Splice_Site_p.R438Q|CLASP1_ENST00000409078.3_Splice_Site_p.R438Q|CLASP1_ENST00000545861.1_Splice_Site_p.R206Q|CLASP1_ENST00000430234.1_5'Flank|CLASP1_ENST00000455322.2_Splice_Site_p.R438Q|CLASP1_ENST00000397587.3_Splice_Site_p.R438Q|CLASP1_ENST00000541859.1_Splice_Site_p.R207Q	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	438					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CATACTTACCCGAATAATTAA	0.338																																						uc002tnc.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47						c.e13+1		Homo sapiens cytoplasmic linker associated protein 1 (CLASP1), transcript variant 1, mRNA.							68.0	69.0	68.0					2																	122216417		1836	4096	5932	SO:0001630	splice_region_variant	23332				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	g.chr2:122216417C>T	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.1314+1G>A	2.37:g.122216417C>T						CLASP1_uc002tna.3_5'Flank|CLASP1_uc010yyw.2_Splice_Site|CLASP1_uc002tnb.3_Splice_Site|CLASP1_uc010yyx.2_Splice_Site|CLASP1_uc010yyy.2_Splice_Site|CLASP1_uc010yyz.2_Splice_Site_p.R438_splice|CLASP1_uc010yza.2_Splice_Site_p.R438_splice|CLASP1_uc021vnl.1_Splice_Site_p.R438_splice|CLASP1_uc010yzc.2_Splice_Site|CLASP1_uc002tng.1_Splice_Site_p.R438_splice	p.R438_splice	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN			13	1704	-	Renal(3;0.0496)		438					B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	37	c.1314_splice		.	.	.	.	.	.	.	.	.	.	C	29.8	5.037978	0.93630	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	T;T;T;T;T;T;T	0.66280	-0.2;1.03;1.03;1.03;-0.2;1.03;-0.2	5.45	5.45	0.79879	Armadillo-like helical (1);Armadillo-type fold (1);CLASP N-terminal domain (1);	0.111459	0.64402	D	0.000007	T	0.72732	0.3497	L	0.42245	1.32	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.85130	0.994;0.99;0.994;0.997	T	0.64909	-0.6296	10	0.16896	T	0.51	-10.2852	19.6233	0.95669	0.0:1.0:0.0:0.0	.	438;438;438;438	E7EUA5;F5GWS0;B7ZLX3;Q7Z460	.;.;.;CLAP1_HUMAN	Q	438;438;438;438;207;438;206	ENSP00000263710:R438Q;ENSP00000389372:R438Q;ENSP00000380717:R438Q;ENSP00000441625:R438Q;ENSP00000441770:R207Q;ENSP00000386442:R438Q;ENSP00000438620:R206Q	ENSP00000263710:R438Q	R	-	2	0	CLASP1	121932887	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.782000	0.85680	2.714000	0.92807	0.655000	0.94253	CGG		0.338	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282	Missense_Mutation
MBD5	55777	broad.mit.edu	37	2	149220206	149220206	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr2:149220206G>A	ENST00000407073.1	+	7	1166	c.169G>A	c.(169-171)Gat>Aat	p.D57N	MBD5_ENST00000404807.1_Missense_Mutation_p.D57N	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	57	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CCTGCTTACTGATGGAACATG	0.353																																						uc002twm.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62						c.(169-171)Gat>Aat		Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.							137.0	132.0	134.0					2																	149220206		2203	4300	6503	SO:0001583	missense	55777					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149220206G>A	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.169G>A	2.37:g.149220206G>A	ENSP00000386049:p.Asp57Asn					MBD5_uc010zbs.2_Non-coding_Transcript	p.D57N	NM_018328	NP_060798	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	6	1166	+			57			MBD.		A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	c.169G>A	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	G	31	5.091921	0.94149	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.52754	0.65;0.66	5.83	5.83	0.93111	Methyl-CpG DNA binding (1);	0.090693	0.47852	D	0.000212	T	0.66086	0.2754	M	0.66939	2.045	0.80722	D	1	D	0.61080	0.989	P	0.58928	0.848	T	0.67063	-0.5765	10	0.72032	D	0.01	-8.1856	20.1338	0.98010	0.0:0.0:1.0:0.0	.	57	Q9P267	MBD5_HUMAN	N	57	ENSP00000386049:D57N;ENSP00000384672:D57N	ENSP00000384672:D57N	D	+	1	0	MBD5	148936676	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.807000	0.99171	2.770000	0.95276	0.655000	0.94253	GAT		0.353	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2		
PMS1	5378	broad.mit.edu	37	2	190660525	190660525	+	Nonsense_Mutation	SNP	C	C	T	rs375147123		TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr2:190660525C>T	ENST00000441310.2	+	3	396	c.163C>T	c.(163-165)Cga>Tga	p.R55*	PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000409985.1_Nonsense_Mutation_p.R55*|PMS1_ENST00000374826.4_Nonsense_Mutation_p.R55*|PMS1_ENST00000418224.3_5'UTR|PMS1_ENST00000447232.2_Nonsense_Mutation_p.R55*|PMS1_ENST00000432292.3_Intron|PMS1_ENST00000409823.3_Nonsense_Mutation_p.R55*	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	55					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			AATTGAGGTGCGAGATAACGG	0.323			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)																														uc002urh.4			yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	"""Mis, N"""	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)			E		"""colorectal, endometrial, ovarian"""			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(163-165)Cga>Tga	Direct reversal of damage;Mismatch excision repair (MMR)	Homo sapiens PMS1 postmeiotic segregation increased 1 (S. cerevisiae) (PMS1), transcript variant 1, mRNA.		C	stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	73.0	73.0	73.0		163,163,163	3.9	0.9	2		73	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained,stop-gained	PMS1	NM_000534.4,NM_001128143.1,NM_001128144.1	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	55/933,55/894,55/771	190660525	1,13005	2203	4300	6503	SO:0001587	stop_gained	5378				mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	g.chr2:190660525C>T		CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"""postmeiotic segregation increased (S. cerevisiae) 1"""	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.163C>T	2.37:g.190660525C>T	ENSP00000406490:p.Arg55*					PMS1_uc010zga.1_Nonsense_Mutation_p.R55*|PMS1_uc010zgb.1_Intron|PMS1_uc002urk.4_Nonsense_Mutation_p.R55*|PMS1_uc002uri.4_Nonsense_Mutation_p.R55*|PMS1_uc010zgc.2_5'UTR|PMS1_uc010zgd.2_Intron|PMS1_uc002urj.3_Non-coding_Transcript|PMS1_uc010fry.1_Nonsense_Mutation_p.R55*|PMS1_uc010frz.3_Nonsense_Mutation_p.R55*|PMS1_uc010zfz.1_Nonsense_Mutation_p.R55*	p.R55*	NM_000534	NP_000525	P54277	PMS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)		2	692	+			55					D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Nonsense_Mutation	SNP	ENST00000441310.2	37	c.163C>T	CCDS2302.1	.	.	.	.	.	.	.	.	.	.	C	35	5.416745	0.96092	0.0	1.16E-4	ENSG00000064933	ENST00000441310;ENST00000409985;ENST00000409823;ENST00000374826;ENST00000424766;ENST00000447232;ENST00000420421	.	.	.	5.78	3.94	0.45596	.	0.058038	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.1259	14.6752	0.68975	0.3959:0.6041:0.0:0.0	.	.	.	.	X	55	.	ENSP00000343888:R55X	R	+	1	2	PMS1	190368770	0.998000	0.40836	0.919000	0.36401	0.959000	0.62525	3.997000	0.57016	0.741000	0.32674	0.637000	0.83480	CGA		0.323	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2		
DYTN	391475	broad.mit.edu	37	2	207530695	207530695	+	Nonsense_Mutation	SNP	G	G	A	rs180718219	byFrequency	TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr2:207530695G>A	ENST00000452335.2	-	10	1155	c.1039C>T	c.(1039-1041)Cag>Tag	p.Q347*		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	347						plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		CTTTCTTCCTGGGAGGTGTAT	0.408													G|||	3	0.000599042	0.0	0.0	5008	,	,		20848	0.003		0.0	False		,,,				2504	0.0					uc002vbr.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36						c.(1039-1041)Cag>Tag		Homo sapiens dystrotelin (DYTN), mRNA.							230.0	203.0	211.0					2																	207530695		1833	4092	5925	SO:0001587	stop_gained	391475					plasma membrane	zinc ion binding	g.chr2:207530695G>A	ABF55377	CCDS46502.1	2q33.3	2007-01-22			ENSG00000232125	ENSG00000232125			23279	protein-coding gene	gene with protein product						17233888	Standard	NM_001093730		Approved		uc002vbr.1	A2CJ06	OTTHUMG00000154729	ENST00000452335.2:c.1039C>T	2.37:g.207530695G>A	ENSP00000396593:p.Gln347*						p.Q347*	NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)	9	1156	-			347						Nonsense_Mutation	SNP	ENST00000452335.2	37	c.1039C>T	CCDS46502.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	18.50	3.636973	0.67130	.	.	ENSG00000232125	ENST00000452335	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-6.3928	13.7247	0.62750	0.0:0.0:1.0:0.0	.	.	.	.	X	347	.	ENSP00000396593:Q347X	Q	-	1	0	DYTN	207238940	1.000000	0.71417	0.991000	0.47740	0.101000	0.19017	3.070000	0.50033	2.695000	0.91970	0.555000	0.69702	CAG		0.408	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336799.1		
WNT10A	80326	broad.mit.edu	37	2	219745829	219745829	+	Splice_Site	SNP	A	A	T			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr2:219745829A>T	ENST00000258411.3	+	1	745	c.112A>T	c.(112-114)Agg>Tgg	p.R38W		NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	38					cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|epidermis morphogenesis (GO:0048730)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|neural crest cell differentiation (GO:0014033)|neuron differentiation (GO:0030182)|odontogenesis (GO:0042476)|positive regulation of gene expression (GO:0010628)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sebaceous gland development (GO:0048733)|skin development (GO:0043588)|tongue development (GO:0043586)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCCATGCCCAGGTGAGCCCT	0.687																																						uc002vjd.1																			0				breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12						c.e1+1		Homo sapiens wingless-type MMTV integration site family, member 10A (WNT10A), mRNA.							9.0	10.0	9.0					2																	219745829		2170	4283	6453	SO:0001630	splice_region_variant	80326				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr2:219745829A>T	AB059569	CCDS2426.1	2q35	2008-05-23			ENSG00000135925	ENSG00000135925		"""Wingless-type MMTV integration sites"""	13829	protein-coding gene	gene with protein product		606268				11350055, 17847007	Standard	NM_025216		Approved		uc002vjd.1	Q9GZT5	OTTHUMG00000133085	ENST00000258411.3:c.113+1A>T	2.37:g.219745829A>T							p.R38_splice	NM_025216	NP_079492	Q9GZT5	WN10A_HUMAN		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	1	576	+		Renal(207;0.0474)	38					Q53S44|Q96TA7|Q9H7S8	Missense_Mutation	SNP	ENST00000258411.3	37	c.113_splice	CCDS2426.1	.	.	.	.	.	.	.	.	.	.	A	19.40	3.819788	0.71028	.	.	ENSG00000135925	ENST00000258411	T	0.76839	-1.05	3.75	2.56	0.30785	.	.	.	.	.	T	0.81128	0.4758	L	0.52573	1.65	0.48236	D	0.999614	D	0.89917	1.0	D	0.76575	0.988	T	0.76334	-0.2997	9	0.37606	T	0.19	.	6.9126	0.24342	0.7632:0.2368:0.0:0.0	.	38	Q9GZT5	WN10A_HUMAN	W	38	ENSP00000258411:R38W	ENSP00000258411:R38W	R	+	1	2	WNT10A	219454073	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.884000	0.39668	0.493000	0.27837	0.454000	0.30748	AGG		0.687	WNT10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256730.2	NM_025216	Missense_Mutation
KCNJ13	3769	broad.mit.edu	37	2	233632952	233632952	+	Silent	SNP	A	A	G	rs570363677		TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr2:233632952A>G	ENST00000233826.3	-	3	1171	c.1032T>C	c.(1030-1032)aaT>aaC	p.N344N	GIGYF2_ENST00000409547.1_Intron|GIGYF2_ENST00000452341.2_Intron|GIGYF2_ENST00000373563.4_Intron|GIGYF2_ENST00000409196.3_Intron|KCNJ13_ENST00000409779.1_3'UTR|AC064852.4_ENST00000427571.1_RNA|GIGYF2_ENST00000409451.3_Intron|GIGYF2_ENST00000373566.3_Intron|KCNJ13_ENST00000410029.1_Silent_p.N344N|GIGYF2_ENST00000409480.1_Intron	NM_002242.4	NP_002233.2	O60928	KCJ13_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 13	344					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	inward rectifier potassium channel activity (GO:0005242)			endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		TGCTTTGTCCATTGATGTGGA	0.383													A|||	1	0.000199681	0.0	0.0	5008	,	,		20865	0.001		0.0	False		,,,				2504	0.0					uc002vto.3																			0				endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9						c.(1030-1032)aaT>aaC		Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 13 (KCNJ13), transcript variant 3, mRNA.							122.0	122.0	122.0					2																	233632952		2203	4300	6503	SO:0001819	synonymous_variant	3769					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr2:233632952A>G	AJ006128	CCDS2498.1, CCDS54437.1	2q37	2014-01-28			ENSG00000115474	ENSG00000115474		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6259	protein-coding gene	gene with protein product		603208				9878260, 9620703, 16382105	Standard	NM_002242		Approved	Kir7.1, Kir1.4, LCA16	uc002vtp.3	O60928	OTTHUMG00000153292	ENST00000233826.3:c.1032T>C	2.37:g.233632952A>G						GIGYF2_uc010zmj.1_Intron|GIGYF2_uc002vtg.2_Intron|GIGYF2_uc002vtj.4_Intron|GIGYF2_uc002vti.4_Intron|GIGYF2_uc002vtk.4_Intron|GIGYF2_uc002vth.4_Intron|GIGYF2_uc010zmk.2_Intron|GIGYF2_uc010zml.1_Intron|KCNJ13_uc002vtn.3_3'UTR|KCNJ13_uc002vtp.3_Silent_p.N344N|KCNJ13_uc021vyk.1_Silent_p.N264N	p.N344N	NM_001172417	NP_001165888	O60928	IRK13_HUMAN		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)	1	1075	-		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)	344					A0PGH1|O76023|Q53SA1|Q8N3Y4	Silent	SNP	ENST00000233826.3	37	c.1032T>C	CCDS2498.1																																																																																				0.383	KCNJ13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257036.1	NM_002242	
SIRPG	55423	broad.mit.edu	37	20	1616837	1616837	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr20:1616837G>A	ENST00000303415.3	-	3	809	c.745C>T	c.(745-747)Cga>Tga	p.R249*	RP11-77C3.3_ENST00000456177.1_RNA|RP11-77C3.3_ENST00000437384.1_RNA|SIRPG_ENST00000381583.2_Nonsense_Mutation_p.R249*|SIRPG_ENST00000381580.1_Nonsense_Mutation_p.R216*|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000216927.4_Nonsense_Mutation_p.R249*	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	249					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						CCTCTACCTCGGATGGCCTCA	0.622																																						uc002wfm.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						c.(745-747)Cga>Tga		Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.							62.0	59.0	60.0					20																	1616837		2203	4300	6503	SO:0001587	stop_gained	55423				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding	g.chr20:1616837G>A	AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15757	protein-coding gene	gene with protein product		605466	"""signal-regulatory protein beta 2"""	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.745C>T	20.37:g.1616837G>A	ENSP00000305529:p.Arg249*					SIRPG_uc002wfn.1_Nonsense_Mutation_p.R249*|SIRPG_uc002wfo.1_Intron|AK093519_uc002wfp.1_Intron	p.R249*	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN			2	810	-			249					B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Nonsense_Mutation	SNP	ENST00000303415.3	37	c.745C>T	CCDS13020.2	.	.	.	.	.	.	.	.	.	.	.	34	5.317974	0.95682	.	.	ENSG00000089012	ENST00000381580;ENST00000303415;ENST00000381583;ENST00000216927	.	.	.	2.1	2.1	0.27182	.	0.313459	0.23127	N	0.051634	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.6332	0.28251	0.0:0.0:1.0:0.0	.	.	.	.	X	216;249;249;249	.	ENSP00000216927:R249X	R	-	1	2	SIRPG	1564837	0.982000	0.34865	0.502000	0.27614	0.713000	0.41058	1.556000	0.36288	1.148000	0.42385	0.195000	0.17529	CGA		0.622	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077566.2	NM_018556	
KIZ-AS1	101929591	broad.mit.edu	37	20	21143753	21143753	+	RNA	SNP	C	C	G			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr20:21143753C>G	ENST00000591761.1	-	0	5051				RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA																							AAACCCTAAGCTCTCCTGATT	0.368																																						uc002wsb.3																			0											c.(1303-1305)agC>agG		Homo sapiens polo-like kinase 1 substrate 1 (PLK1S1), transcript variant 1, mRNA.							96.0	96.0	96.0					20																	21143753		1852	4105	5957			55857				spindle organization	centrosome	protein kinase binding	g.chr20:21143753C>G																													20.37:g.21143753C>G						PLK1S1_uc010zsh.2_Missense_Mutation_p.S332R|PLK1S1_uc010zsi.2_Missense_Mutation_p.S302R|PLK1S1_uc010zsj.2_Non-coding_Transcript|BC042893_uc002wsc.3_Intron|PLK1S1_uc002wsd.3_Non-coding_Transcript	p.S435R	NM_018474	NP_060944	Q2M2Z5	KIZ_HUMAN			5	1438	+			435						Missense_Mutation	SNP	ENST00000591761.1	37	c.1305C>G																																																																																					0.368	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2		
PYGB	5834	broad.mit.edu	37	20	25271172	25271172	+	Missense_Mutation	SNP	G	G	T			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr20:25271172G>T	ENST00000216962.4	+	16	1993	c.1883G>T	c.(1882-1884)gGc>gTc	p.G628V		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	628					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						ACCTCCATCGGCGACGTCGTC	0.522																																						uc002wup.3																			0		p.G628G(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(1882-1884)gGc>gTc		Homo sapiens phosphorylase, glycogen; brain (PYGB), mRNA.	Pyridoxal Phosphate(DB00114)						248.0	204.0	219.0					20																	25271172		2203	4300	6503	SO:0001583	missense	5834				glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding	g.chr20:25271172G>T		CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"""Glycogen phosphorylases"""	9723	protein-coding gene	gene with protein product	"""glycogen phosphorylase, brain form"""	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.1883G>T	20.37:g.25271172G>T	ENSP00000216962:p.Gly628Val					BC128043_uc010gdm.1_5'Flank	p.G628V	NM_002862	NP_002853	P11216	PYGB_HUMAN			15	1992	+			628					Q96AK1|Q9NPX8	Missense_Mutation	SNP	ENST00000216962.4	37	c.1883G>T	CCDS13171.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.15|13.15	2.151174|2.151174	0.38021|0.38021	.|.	.|.	ENSG00000100994|ENSG00000100994	ENST00000428458|ENST00000216962	.|D	.|0.93247	.|-3.19	4.1|4.1	4.1|4.1	0.47936|0.47936	.|.	.|0.097880	.|0.64402	.|D	.|0.000001	D|D	0.96821|0.96821	0.8962|0.8962	M|M	0.91717|0.91717	3.235|3.235	0.80722|0.80722	D|D	1|1	.|D	.|0.64830	.|0.994	.|D	.|0.67548	.|0.952	D|D	0.97238|0.97238	0.9889|0.9889	5|10	.|0.87932	.|D	.|0	-19.3355|-19.3355	12.4033|12.4033	0.55424|0.55424	0.0:0.1698:0.8302:0.0|0.0:0.1698:0.8302:0.0	.|.	.|628	.|P11216	.|PYGB_HUMAN	S|V	47|628	.|ENSP00000216962:G628V	.|ENSP00000216962:G628V	A|G	+|+	1|2	0|0	PYGB|PYGB	25219172|25219172	1.000000|1.000000	0.71417|0.71417	0.022000|0.022000	0.16811|0.16811	0.128000|0.128000	0.20619|0.20619	6.262000|6.262000	0.72514|0.72514	2.286000|2.286000	0.76751|0.76751	0.563000|0.563000	0.77884|0.77884	GCG|GGC		0.522	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862	
SLC32A1	140679	broad.mit.edu	37	20	37356106	37356106	+	Silent	SNP	G	G	C			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr20:37356106G>C	ENST00000217420.1	+	2	665	c.402G>C	c.(400-402)gtG>gtC	p.V134V		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	134					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	GCATGTTCGTGCTGGGCCTAC	0.647																																						uc002xjc.3																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38						c.(400-402)gtG>gtC		Homo sapiens solute carrier family 32 (GABA vesicular transporter), member 1 (SLC32A1), mRNA.	Glycine(DB00145)						57.0	49.0	52.0					20																	37356106		2201	4294	6495	SO:0001819	synonymous_variant	140679				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	g.chr20:37356106G>C	AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"""Solute carriers"""	11018	protein-coding gene	gene with protein product			"""vesicular inhibitory amino acid transporter"""	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.402G>C	20.37:g.37356106G>C							p.V134V	NM_080552	NP_542119	Q9H598	VIAAT_HUMAN			1	665	+		Myeloproliferative disorder(115;0.00878)	134					Q8N489	Silent	SNP	ENST00000217420.1	37	c.402G>C	CCDS13307.1																																																																																				0.647	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	NM_080552	
CASS4	57091	broad.mit.edu	37	20	55033502	55033502	+	Missense_Mutation	SNP	T	T	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr20:55033502T>A	ENST00000360314.3	+	7	2285	c.2060T>A	c.(2059-2061)aTc>aAc	p.I687N	AL121914.1_ENST00000390795.2_RNA|CASS4_ENST00000434344.1_Missense_Mutation_p.I250N|CASS4_ENST00000371336.3_Missense_Mutation_p.I687N	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	687					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						TTCAAAGCCATCAGCGCATTT	0.577																																						uc002xxp.2																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						c.(2059-2061)aTc>aAc		Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.							64.0	63.0	63.0					20																	55033502		2203	4300	6503	SO:0001583	missense	57091				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	g.chr20:55033502T>A	AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"""Cas scaffolding proteins"""	15878	protein-coding gene	gene with protein product	"""HEF-like protein"", ""HEF1-Efs-p130Cas-like"""		"""chromosome 20 open reading frame 32"""	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.2060T>A	20.37:g.55033502T>A	ENSP00000353462:p.Ile687Asn					CASS4_uc010zze.1_Missense_Mutation_p.I633N|CASS4_uc002xxr.2_Missense_Mutation_p.I687N|CASS4_uc010gio.2_Missense_Mutation_p.I250N	p.I687N	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN			6	2285	+			687					E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Missense_Mutation	SNP	ENST00000360314.3	37	c.2060T>A	CCDS33492.1	.	.	.	.	.	.	.	.	.	.	T	19.08	3.758285	0.69763	.	.	ENSG00000087589	ENST00000360314;ENST00000371336;ENST00000434344	T;T;T	0.34667	1.35;1.35;1.35	5.91	5.91	0.95273	CAS family, DUF3513 (1);	0.273612	0.40728	N	0.001036	T	0.63943	0.2554	M	0.82323	2.585	0.54753	D	0.999988	D;D;D	0.76494	0.999;0.996;0.999	D;D;D	0.71414	0.973;0.939;0.964	T	0.69468	-0.5137	10	0.87932	D	0	-11.999	16.3483	0.83171	0.0:0.0:0.0:1.0	.	633;250;687	B4DII4;Q9NQ75-3;Q9NQ75	.;.;CASS4_HUMAN	N	687;687;250	ENSP00000353462:I687N;ENSP00000360387:I687N;ENSP00000410027:I250N	ENSP00000353462:I687N	I	+	2	0	CASS4	54466909	1.000000	0.71417	0.298000	0.25002	0.442000	0.32017	7.270000	0.78493	2.254000	0.74563	0.533000	0.62120	ATC		0.577	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356	
SLCO4A1	28231	broad.mit.edu	37	20	61288142	61288142	+	Silent	SNP	C	C	T			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr20:61288142C>T	ENST00000370507.1	+	1	432	c.336C>T	c.(334-336)gcC>gcT	p.A112A	SLCO4A1_ENST00000217159.1_Silent_p.A112A			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	112					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)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TGTGTGCGGCCGCATTCCTGC	0.647																																					Pancreas(168;741 2006 10379 40139 45334)	uc002ydb.1																			0				endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21						c.(334-336)gcC>gcT		Homo sapiens solute carrier organic anion transporter family, member 4A1 (SLCO4A1), mRNA.							47.0	44.0	45.0					20																	61288142		2203	4299	6502	SO:0001819	synonymous_variant	28231				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr20:61288142C>T	AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"""Solute carriers"""	10953	protein-coding gene	gene with protein product		612436	"""solute carrier family 21 (organic anion transporter), member 12"""	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.336C>T	20.37:g.61288142C>T							p.A112A	NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		1	541	+	Breast(26;3.65e-08)		112					Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Silent	SNP	ENST00000370507.1	37	c.336C>T	CCDS13501.1																																																																																				0.647	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080048.2	NM_016354	
POTEH	23784	broad.mit.edu	37	22	16287657	16287657	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr22:16287657T>C	ENST00000343518.6	-	1	280	c.229A>G	c.(229-231)Aag>Gag	p.K77E		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	77										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						ACGTTGCTCTTGCCGCTCCCC	0.587																																						uc010gqp.2																			0		p.G76C(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						c.(229-231)Aag>Gag		Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.							73.0	86.0	82.0					22																	16287657		2072	3825	5897	SO:0001583	missense	23784							g.chr22:16287657T>C	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.229A>G	22.37:g.16287657T>C	ENSP00000340610:p.Lys77Glu					POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_5'UTR	p.K77E	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN			0	281	-			77					A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.229A>G	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	9.939	1.216885	0.22373	.	.	ENSG00000198062	ENST00000343518;ENST00000355872	T	0.34275	1.37	.	.	.	.	.	.	.	.	T	0.28167	0.0695	L	0.38838	1.175	0.09310	N	1	P	0.34587	0.458	B	0.39152	0.292	T	0.24154	-1.0168	7	0.44086	T	0.13	.	.	.	.	.	77	Q6S545	POTEH_HUMAN	E	77	ENSP00000340610:K77E	ENSP00000340610:K77E	K	-	1	0	POTEH	14667657	0.006000	0.16342	0.080000	0.20451	0.081000	0.17604	0.280000	0.18790	0.129000	0.18514	0.128000	0.15822	AAG		0.587	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213	
ELFN2	114794	broad.mit.edu	37	22	37769172	37769172	+	Silent	SNP	G	G	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr22:37769172G>A	ENST00000402918.2	-	3	3188	c.2403C>T	c.(2401-2403)gaC>gaT	p.D801D	RP1-63G5.8_ENST00000609322.1_RNA|RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000435824.1_5'Flank	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	801					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GCAGATCCTCGTCCTTGGCGA	0.632																																						uc003asq.4																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35						c.(2401-2403)gaC>gaT		Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.							98.0	87.0	91.0					22																	37769172		2203	4300	6503	SO:0001819	synonymous_variant	114794					cell surface|integral to membrane		g.chr22:37769172G>A	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.2403C>T	22.37:g.37769172G>A						ELFN2_uc021wph.1_Silent_p.D801D	p.D801D	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN			2	3189	-	Melanoma(58;0.0574)		801					Q96PY3	Silent	SNP	ENST00000402918.2	37	c.2403C>T	CCDS33642.1																																																																																				0.632	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906	
CAND2	23066	broad.mit.edu	37	3	12856711	12856711	+	Missense_Mutation	SNP	G	G	T	rs199547028	byFrequency	TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr3:12856711G>T	ENST00000456430.2	+	8	1119	c.1078G>T	c.(1078-1080)Gca>Tca	p.A360S	CAND2_ENST00000295989.5_Missense_Mutation_p.A267S	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	360					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CAAGTGCATCGCAGCCTTGAT	0.597																																					GBM(43;676 868 1633 6395 37496)	uc003bxk.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1078-1080)Gca>Tca		Homo sapiens cullin-associated and neddylation-dissociated 2 (putative) (CAND2), transcript variant 1, mRNA.							55.0	63.0	60.0					3																	12856711		2149	4248	6397	SO:0001583	missense	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12856711G>T		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.1078G>T	3.37:g.12856711G>T	ENSP00000387641:p.Ala360Ser					CAND2_uc003bxj.2_Missense_Mutation_p.A267S	p.A360S	NM_001162499	NP_001155971	O75155	CAND2_HUMAN			7	1127	+			360					B9EGM9|E9KL24	Missense_Mutation	SNP	ENST00000456430.2	37	c.1078G>T	CCDS54554.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.572198	0.28092	.	.	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.07327	3.2;3.2	4.86	3.07	0.35406	Armadillo-like helical (1);Armadillo-type fold (1);	0.229694	0.33023	N	0.005378	T	0.06050	0.0157	N	0.25426	0.745	0.80722	D	1	B;B	0.20368	0.004;0.044	B;B	0.29353	0.008;0.101	T	0.30650	-0.9971	10	0.10111	T	0.7	-1.0575	9.1981	0.37240	0.1803:0.0:0.8197:0.0	.	360;267	O75155;O75155-2	CAND2_HUMAN;.	S	267;360	ENSP00000295989:A267S;ENSP00000387641:A360S	ENSP00000295989:A267S	A	+	1	0	CAND2	12831711	1.000000	0.71417	0.004000	0.12327	0.469000	0.32828	5.670000	0.68088	0.464000	0.27142	-0.254000	0.11334	GCA		0.597	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617	
SLC7A11	23657	broad.mit.edu	37	4	139100426	139100426	+	Silent	SNP	C	C	A	rs145453312		TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr4:139100426C>A	ENST00000280612.5	-	11	1668	c.1389G>T	c.(1387-1389)gcG>gcT	p.A463A	SLC7A11-AS1_ENST00000510767.1_RNA	NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	463					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|brain development (GO:0007420)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|lens fiber cell differentiation (GO:0070306)|leukocyte migration (GO:0050900)|platelet aggregation (GO:0070527)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	cystine:glutamate antiporter activity (GO:0015327)			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				Acetylcysteine(DB06151)|L-Cystine(DB00138)|Riluzole(DB00740)|Rosuvastatin(DB01098)|Sulfasalazine(DB00795)|Tauroursodeoxycholic acid(DB08834)	AGAGATAATACGCAGGGACTC	0.423																																						uc021xrw.1																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18						c.(1387-1389)gcG>gcT		Homo sapiens solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 (SLC7A11), mRNA.	L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)						70.0	68.0	69.0					4																	139100426		2203	4300	6503	SO:0001819	synonymous_variant	23657				blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding	g.chr4:139100426C>A	AB026891	CCDS3742.1	4q28-q32	2013-05-22	2011-07-12		ENSG00000151012	ENSG00000151012		"""Solute carriers"""	11059	protein-coding gene	gene with protein product		607933				10206947, 12763038	Standard	XM_005262875		Approved	xCT	uc021xrw.1	Q9UPY5	OTTHUMG00000133396	ENST00000280612.5:c.1389G>T	4.37:g.139100426C>A							p.A463A	NM_014331	NP_055146	Q9UPY5	XCT_HUMAN			10	1669	-	all_hematologic(180;0.166)		463					A8K2U4	Silent	SNP	ENST00000280612.5	37	c.1389G>T	CCDS3742.1																																																																																				0.423	SLC7A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257251.2		
CARD6	84674	broad.mit.edu	37	5	40843343	40843343	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr5:40843343C>A	ENST00000254691.5	+	2	572	c.373C>A	c.(373-375)Cct>Act	p.P125T	CARD6_ENST00000381677.3_Missense_Mutation_p.P125T	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	125					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						AATAAAACAGCCTGAAGCCCC	0.403																																						uc003jmg.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						c.(373-375)Cct>Act		Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.							53.0	56.0	55.0					5																	40843343		2203	4300	6503	SO:0001583	missense	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40843343C>A	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.373C>A	5.37:g.40843343C>A	ENSP00000254691:p.Pro125Thr						p.P125T	NM_032587	NP_115976	Q9BX69	CARD6_HUMAN			1	448	+			125					Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	c.373C>A	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.471074	0.43942	.	.	ENSG00000132357	ENST00000254691;ENST00000381677;ENST00000444789;ENST00000509771	T;T	0.32272	2.67;1.46	5.33	3.42	0.39159	.	0.785759	0.11201	N	0.588858	T	0.24699	0.0599	L	0.34521	1.04	0.09310	N	1	D	0.56521	0.976	B	0.43990	0.438	T	0.11084	-1.0602	10	0.72032	D	0.01	-1.7824	6.5773	0.22573	0.0:0.7859:0.0:0.2141	.	125	Q9BX69	CARD6_HUMAN	T	125	ENSP00000254691:P125T;ENSP00000371093:P125T	ENSP00000254691:P125T	P	+	1	0	CARD6	40879100	0.000000	0.05858	0.005000	0.12908	0.002000	0.02628	0.138000	0.16016	1.495000	0.48549	-0.136000	0.14681	CCT		0.403	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3		
HARS	3035	broad.mit.edu	37	5	140056309	140056309	+	Missense_Mutation	SNP	C	C	T	rs151258227		TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr5:140056309C>T	ENST00000504156.1	-	10	1843	c.1124G>A	c.(1123-1125)cGc>cAc	p.R375H	HARS_ENST00000438307.2_Missense_Mutation_p.R335H|HARS_ENST00000448240.1_Missense_Mutation_p.R180H|HARS_ENST00000457527.2_Missense_Mutation_p.R355H|HARS_ENST00000431330.2_Missense_Mutation_p.R261H|HARS_ENST00000415192.2_Missense_Mutation_p.R301H|HARS_ENST00000307633.3_Missense_Mutation_p.R315H|HARS_ENST00000504366.1_Missense_Mutation_p.R306H	NM_002109.4	NP_002100.2	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	375				R -> L (in Ref. 3; BAG58213). {ECO:0000305}.	gene expression (GO:0010467)|histidyl-tRNA aminoacylation (GO:0006427)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|histidine-tRNA ligase activity (GO:0004821)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	TGGCACCTTGCGCCCTTTGGG	0.597																																						uc003lgv.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(1123-1125)cGc>cAc		Homo sapiens histidyl-tRNA synthetase (HARS), mRNA.	L-Histidine(DB00117)	C	HIS/ARG	0,4406		0,0,2203	121.0	115.0	117.0		1124	4.8	1.0	5	dbSNP_134	117	1,8599	1.2+/-3.3	0,1,4299	no	missense	HARS	NM_002109.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	375/510	140056309	1,13005	2203	4300	6503	SO:0001583	missense	3035				histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity	g.chr5:140056309C>T	AK000498	CCDS4237.1, CCDS58976.1, CCDS58977.1, CCDS58978.1, CCDS75323.1, CCDS75324.1	5q31.3	2012-10-02			ENSG00000170445	ENSG00000170445	6.1.1.21	"""Aminoacyl tRNA synthetases / Class II"""	4816	protein-coding gene	gene with protein product	"""histidine tRNA ligase 1, cytoplasmic"""	142810					Standard	XM_005268428		Approved		uc003lgv.4	P12081	OTTHUMG00000129502	ENST00000504156.1:c.1124G>A	5.37:g.140056309C>T	ENSP00000425634:p.Arg375His					HARS_uc003lgu.3_Missense_Mutation_p.R306H|HARS_uc011czm.2_Missense_Mutation_p.R335H|HARS_uc003lgw.3_Missense_Mutation_p.R355H|HARS_uc011czn.2_Missense_Mutation_p.R315H|HARS_uc011czo.2_Missense_Mutation_p.R301H|HARS_uc011czp.2_Missense_Mutation_p.R261H|HARS_uc011czq.2_Missense_Mutation_p.R265H	p.R375H	NM_002109	NP_002100	P12081	SYHC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		9	1206	-			375					B4DHQ1|B4DY73|D6REN6|J3KNE5	Missense_Mutation	SNP	ENST00000504156.1	37	c.1124G>A	CCDS4237.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.331294	0.41297	0.0	1.16E-4	ENSG00000170445	ENST00000504156;ENST00000457527;ENST00000431330;ENST00000504366;ENST00000307633;ENST00000448240;ENST00000438307;ENST00000415192;ENST00000507746	T;T;T;T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78	5.64	4.78	0.61160	Aminoacyl-tRNA synthetase, class II (1);	0.000000	0.85682	D	0.000000	T	0.39118	0.1066	L	0.37507	1.11	0.80722	D	1	B;B;B;B;B;B;B	0.24368	0.018;0.032;0.003;0.102;0.004;0.013;0.008	B;B;B;B;B;B;B	0.20955	0.007;0.032;0.005;0.021;0.009;0.008;0.003	T	0.16041	-1.0416	10	0.32370	T	0.25	-0.0737	15.1869	0.73009	0.0:0.9322:0.0:0.0678	.	265;261;301;335;375;355;375	B4DEA2;B4E1C5;B4DDD8;B4DY73;Q52NV4;D6REN6;P12081	.;.;.;.;.;.;SYHC_HUMAN	H	375;355;261;306;315;180;335;301;265	ENSP00000425634:R375H;ENSP00000387893:R355H;ENSP00000393244:R261H;ENSP00000430063:R306H;ENSP00000304668:R315H;ENSP00000413605:R180H;ENSP00000411511:R335H;ENSP00000411085:R301H;ENSP00000425889:R265H	ENSP00000304668:R315H	R	-	2	0	HARS	140036493	1.000000	0.71417	1.000000	0.80357	0.296000	0.27459	5.870000	0.69620	1.535000	0.49220	-0.217000	0.12591	CGC		0.597	HARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251673.2	NM_002109	
PCDHB13	56123	broad.mit.edu	37	5	140594357	140594357	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr5:140594357C>T	ENST00000341948.4	+	1	849	c.662C>T	c.(661-663)cCg>cTg	p.P221L		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	221	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P221L(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGGCTCTCCGCCCAGATCT	0.532																																						uc003lja.1																			1	Substitution - Missense(1)	p.P221L(2)	ovary(1)	NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66						c.(661-663)cCg>cTg		Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.							97.0	104.0	102.0					5																	140594357		2203	4300	6503	SO:0001583	missense	56123				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140594357C>T	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.662C>T	5.37:g.140594357C>T	ENSP00000345491:p.Pro221Leu						p.P221L	NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	849	+			221			Cadherin 2.		A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	c.662C>T	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	c	29.3	4.992937	0.93167	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.00792	5.69	3.51	2.6	0.31112	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.06554	0.0168	H	0.95982	3.75	0.46478	D	0.999069	D	0.65815	0.995	D	0.71870	0.975	T	0.01162	-1.1432	9	0.66056	D	0.02	.	11.0844	0.48078	0.0:0.9018:0.0:0.0982	.	221	Q9Y5F0	PCDBD_HUMAN	L	221	ENSP00000345491:P221L	ENSP00000345491:P221L	P	+	2	0	PCDHB13	140574541	0.999000	0.42202	0.006000	0.13384	0.808000	0.45660	4.915000	0.63355	0.548000	0.28955	0.306000	0.20318	CCG		0.532	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933	
RREB1	6239	broad.mit.edu	37	6	7229251	7229251	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr6:7229251C>T	ENST00000349384.6	+	10	1233	c.919C>T	c.(919-921)Cgg>Tgg	p.R307W	RREB1_ENST00000379933.3_Missense_Mutation_p.R307W|RREB1_ENST00000379938.2_Missense_Mutation_p.R307W|RREB1_ENST00000334984.6_Missense_Mutation_p.R307W	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	307					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AACAAACCTGCGGAGGTGCAT	0.507																																						uc003mxb.3																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(919-921)Cgg>Tgg		Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.							78.0	60.0	66.0					6																	7229251		2203	4300	6503	SO:0001583	missense	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7229251C>T	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.919C>T	6.37:g.7229251C>T	ENSP00000305560:p.Arg307Trp					RREB1_uc021yky.1_Missense_Mutation_p.R307W|RREB1_uc003mxc.3_Missense_Mutation_p.R307W|RREB1_uc010jnx.3_Missense_Mutation_p.R307W|RREB1_uc021ykz.1_Missense_Mutation_p.R307W|RREB1_uc021yla.1_Intron	p.R307W	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN			9	1411	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	307					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	c.919C>T	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.900556	0.72754	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T	0.14144	2.63;2.59;2.63;2.53;2.68	5.71	4.81	0.61882	.	0.000000	0.47093	D	0.000255	T	0.37785	0.1016	M	0.91354	3.2	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;0.991;1.0	T	0.42481	-0.9449	10	0.87932	D	0	-24.4462	13.7888	0.63126	0.2759:0.7241:0.0:0.0	.	307;307;307	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	W	307	ENSP00000369265:R307W;ENSP00000369270:R307W;ENSP00000305560:R307W;ENSP00000335574:R307W;ENSP00000419511:R307W	ENSP00000335574:R307W	R	+	1	2	RREB1	7174250	0.984000	0.35163	0.900000	0.35374	0.983000	0.72400	1.734000	0.38166	2.701000	0.92244	0.462000	0.41574	CGG		0.507	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1		
TDP2	51567	broad.mit.edu	37	6	24658115	24658115	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr6:24658115T>C	ENST00000378198.4	-	4	612	c.442A>G	c.(442-444)Ata>Gta	p.I148V	TDP2_ENST00000545995.1_Missense_Mutation_p.I178V|TDP2_ENST00000478285.1_5'UTR|TDP2_ENST00000341060.3_Missense_Mutation_p.I90V			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	148					cell surface receptor signaling pathway (GO:0007166)|double-strand break repair (GO:0006302)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|PML body (GO:0016605)	5'-tyrosyl-DNA phosphodiesterase activity (GO:0070260)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)|tyrosyl-RNA phosphodiesterase activity (GO:0036317)			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						TGTAGAAATATCACATCTGGG	0.313								Direct reversal of damage																														uc003nej.3																			0				kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						c.(442-444)Ata>Gta	Direct reversal of damage	Homo sapiens tyrosyl-DNA phosphodiesterase 2 (TDP2), mRNA.							83.0	90.0	87.0					6																	24658115		2203	4296	6499	SO:0001583	missense	51567				cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity	g.chr6:24658115T>C	AJ269473	CCDS4557.1	6p22.3-p22.1	2010-05-07	2010-05-07	2010-05-07	ENSG00000111802	ENSG00000111802	3.1.4.-		17768	protein-coding gene	gene with protein product		605764	"""TRAF and TNF receptor associated protein"""	TTRAP		11478795	Standard	NM_016614		Approved		uc003nej.3	O95551	OTTHUMG00000014360	ENST00000378198.4:c.442A>G	6.37:g.24658115T>C	ENSP00000367440:p.Ile148Val					TDP2_uc010jpu.1_Missense_Mutation_p.I148V	p.I148V	NM_016614	NP_057698	O95551	TYDP2_HUMAN			3	467	-			148					B4DKL8|B4DQ95|Q2TBE2|Q5JYM0|Q7Z6U5|Q9NUK5|Q9NYY9	Missense_Mutation	SNP	ENST00000378198.4	37	c.442A>G	CCDS4557.1	.	.	.	.	.	.	.	.	.	.	T	2.390	-0.340122	0.05243	.	.	ENSG00000111802	ENST00000378198;ENST00000545995;ENST00000545780;ENST00000341060	T;T;T	0.79033	-1.23;-1.23;-1.23	6.04	-10.3	0.00346	Endonuclease/exonuclease/phosphatase (2);	0.415439	0.28241	N	0.016070	T	0.17831	0.0428	N	0.00493	-1.44	0.27847	N	0.940897	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.42582	-0.9443	10	0.02654	T	1	-20.6792	25.1668	0.99993	0.0:0.9086:0.0:0.0914	.	178;148	O95551-2;O95551	.;TYDP2_HUMAN	V	148;178;70;90	ENSP00000367440:I148V;ENSP00000437637:I178V;ENSP00000345345:I90V	ENSP00000345345:I90V	I	-	1	0	TDP2	24766094	0.078000	0.21339	0.154000	0.22540	0.775000	0.43874	-0.106000	0.10890	-2.496000	0.00513	-1.436000	0.01078	ATA		0.313	TDP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000040012.1		
MDC1	9656	broad.mit.edu	37	6	30671570	30671570	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr6:30671570G>A	ENST00000376406.3	-	10	6037	c.5390C>T	c.(5389-5391)tCt>tTt	p.S1797F	MDC1_ENST00000376405.2_Missense_Mutation_p.S1533F|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1797	Required for nuclear localization (NLS2).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						GGTGAACCTAGATCTACCTGC	0.537								Other conserved DNA damage response genes																														uc003nrg.4																			0				breast(2)|kidney(1)|ovary(1)	4						c.(5389-5391)tCt>tTt	Other conserved DNA damage response genes	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.							121.0	110.0	114.0					6																	30671570		2203	4300	6503	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30671570G>A	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.5390C>T	6.37:g.30671570G>A	ENSP00000365588:p.Ser1797Phe					MDC1_uc003nrf.4_Missense_Mutation_p.S428F|MDC1_uc011dmp.1_Missense_Mutation_p.S1404F	p.S1797F	NM_014641	NP_055456	Q14676	MDC1_HUMAN			9	5830	-			1797			Required for nuclear localization (NLS2).		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.5390C>T	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.591912	0.28357	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.05717	3.4;3.4	5.36	2.54	0.30619	.	0.893166	0.09115	N	0.846543	T	0.02888	0.0086	M	0.70275	2.135	0.09310	N	1	B;B;B	0.29432	0.244;0.085;0.009	B;B;B	0.26202	0.067;0.017;0.016	T	0.44034	-0.9354	10	0.62326	D	0.03	-0.0356	4.8086	0.13331	0.1785:0.0:0.6326:0.1888	.	1533;1797;774	Q14676-2;Q14676;Q14676-4	.;MDC1_HUMAN;.	F	1797;1533;1510;1363	ENSP00000365588:S1797F;ENSP00000365587:S1533F	ENSP00000365587:S1533F	S	-	2	0	MDC1	30779549	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	0.511000	0.22739	0.297000	0.22615	0.555000	0.69702	TCT		0.537	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641	
DST	667	broad.mit.edu	37	6	56566691	56566691	+	Missense_Mutation	SNP	G	G	A	rs183558657		TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr6:56566691G>A	ENST00000361203.3	-	4	323	c.316C>T	c.(316-318)Cgc>Tgc	p.R106C	DST_ENST00000370769.4_Missense_Mutation_p.R106C|DST_ENST00000370754.5_Missense_Mutation_p.R284C|DST_ENST00000421834.2_Missense_Mutation_p.R106C|DST_ENST00000370788.2_Missense_Mutation_p.R106C|DST_ENST00000312431.6_Missense_Mutation_p.R106C			Q03001	DYST_HUMAN	dystonin	106	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CATACCTGGCGTCTTTTCAAA	0.343													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16317	0.0		0.0	False		,,,				2504	0.0					uc021zay.1																			0		p.E146K(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(436-438)Cgc>Tgc		Homo sapiens dystonin (DST), transcript variant 1e, mRNA.							86.0	78.0	80.0					6																	56566691		1815	4079	5894	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56566691G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.316C>T	6.37:g.56566691G>A	ENSP00000354508:p.Arg106Cys					DST_uc011dxl.1_Missense_Mutation_p.R135C|DST_uc021zaz.1_Missense_Mutation_p.R106C	p.R146C	NM_001723	NP_001714	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		4	562	-	Lung NSC(77;0.103)		106			Actin-binding.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.436C>T		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	16.22	3.062660	0.55432	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000421834;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000520645;ENST00000449297;ENST00000522538;ENST00000523817	D;D;D;D;D;D;D;D;D;D	0.94931	-3.56;-3.56;-3.56;-3.56;-3.56;-3.56;-3.56;-3.56;-3.56;-3.56	4.94	4.94	0.65067	Calponin homology domain (5);	0.121578	0.37348	N	0.002139	D	0.96288	0.8789	L	0.60845	1.875	0.37313	D	0.909193	D;D;D;D;D	0.89917	1.0;0.998;1.0;0.999;0.998	D;P;D;P;P	0.77004	0.989;0.881;0.989;0.881;0.881	D	0.96481	0.9356	9	0.87932	D	0	.	18.7006	0.91619	0.0:0.0:1.0:0.0	.	135;106;106;284;106	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001	.;.;.;.;DYST_HUMAN	C	284;106;106;106;106;106;146;284;57;99	ENSP00000359790:R284C;ENSP00000359805:R106C;ENSP00000400883:R106C;ENSP00000307959:R106C;ENSP00000359824:R106C;ENSP00000354508:R106C;ENSP00000431030:R146C;ENSP00000393082:R284C;ENSP00000429075:R57C;ENSP00000429221:R99C	ENSP00000307959:R106C	R	-	1	0	DST	56674650	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.492000	0.66893	2.721000	0.93114	0.591000	0.81541	CGC		0.343	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
PMS2	5395	broad.mit.edu	37	7	6026906	6026906	+	Missense_Mutation	SNP	C	C	T	rs199739859		TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr7:6026906C>T	ENST00000265849.7	-	11	1595	c.1490G>A	c.(1489-1491)gGc>gAc	p.G497D	PMS2_ENST00000382321.4_Intron|PMS2_ENST00000441476.2_Missense_Mutation_p.G391D|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.G497D	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	497					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		GGAAGTGCTGCCGTGCCCCGA	0.632			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													uc003spl.3			yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	"""Mis, N, F"""	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			E		"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1489-1491)gGc>gAc	Direct reversal of damage;Mismatch excision repair (MMR)	Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) (PMS2), transcript variant 1, mRNA.							63.0	66.0	65.0					7																	6026906		2203	4300	6503	SO:0001583	missense	5395	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	g.chr7:6026906C>T		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.1490G>A	7.37:g.6026906C>T	ENSP00000265849:p.Gly497Asp					PMS2_uc003spj.3_Missense_Mutation_p.G391D|PMS2_uc003spk.3_Missense_Mutation_p.G362D|PMS2_uc011jwl.2_Missense_Mutation_p.G362D|PMS2_uc010ktg.3_Missense_Mutation_p.G186D|PMS2_uc010kte.3_Intron|PMS2_uc010ktf.2_Missense_Mutation_p.G497D	p.G497D	NM_000535	NP_000526	P54278	PMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)	10	1577	-		Ovarian(82;0.0694)	497					B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	ENST00000265849.7	37	c.1490G>A	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	c	10.16	1.273726	0.23221	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000441476;ENST00000406569	T;T;D	0.86865	1.16;1.16;-2.18	5.95	3.14	0.36123	.	1.048100	0.07338	N	0.880374	T	0.80226	0.4584	L	0.29908	0.895	0.27060	N	0.96359	P;P;B	0.46142	0.873;0.611;0.057	B;B;B	0.42282	0.382;0.118;0.055	T	0.63695	-0.6579	10	0.12766	T	0.61	-0.1349	9.339	0.38067	0.0:0.7497:0.1203:0.13	.	497;497;391	P54278-3;P54278;C9J167	.;PMS2_HUMAN;.	D	497;450;391;497	ENSP00000265849:G497D;ENSP00000392843:G391D;ENSP00000384308:G497D	ENSP00000265849:G497D	G	-	2	0	PMS2	5993432	0.905000	0.30787	0.077000	0.20336	0.024000	0.10985	2.404000	0.44539	0.403000	0.25479	-0.145000	0.13849	GGC		0.632	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535	
TRGC1	6966	broad.mit.edu	37	7	38305013	38305013	+	RNA	SNP	C	C	T	rs200517170		TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr7:38305013C>T	ENST00000443402.2	-	0	266					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1	P0CF51	TRGC1_HUMAN	T cell receptor gamma constant 1							integral component of membrane (GO:0016021)											TCATGTCTGACGATACATCTG	0.393																																						uc003tge.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.(694-696)Gtc>Atc		Homo sapiens TCR gamma alternate reading frame protein (TARP), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							171.0	161.0	164.0					7																	38305013		1838	4108	5946			445347					cytoplasm	nucleic acid binding	g.chr7:38305013C>T	M14996		7p14	2012-02-07			ENSG00000211689	ENSG00000211689		"""T cell receptors / TRG locus"""	12275	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C1"""	186970		TCRGC1		2879283	Standard	NG_001336		Approved	C1		P0CF51	OTTHUMG00000155219		7.37:g.38305013C>T						ARPP21_uc022aby.1_Missense_Mutation_p.V28I|ARPP21_uc003tfv.3_Intron|ARPP21_uc022abz.1_Intron|ARPP21_uc003tfz.1_Intron|ARPP21_uc003tgb.2_Missense_Mutation_p.V28I|ARPP21_uc003tgc.1_Missense_Mutation_p.V28I|ARPP21_uc003tgd.1_Missense_Mutation_p.V28I|ARPP21_uc010kxi.1_Non-coding_Transcript|ARPP21_uc003tgf.1_Non-coding_Transcript|ARPP21_uc003tgj.1_Non-coding_Transcript|ARPP21_uc003tgg.1_Non-coding_Transcript|ARPP21_uc003tgh.1_Non-coding_Transcript|ARPP21_uc003tgi.1_Non-coding_Transcript	p.V232I			Q9UBL0	ARP21_HUMAN			4	1071	-			0						Missense_Mutation	SNP	ENST00000443402.2	37	c.694G>A																																																																																					0.393	TRGC1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338825.3	NG_001336	
PCLO	27445	broad.mit.edu	37	7	82584287	82584287	+	Silent	SNP	T	T	C			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr7:82584287T>C	ENST00000333891.9	-	5	6319	c.5982A>G	c.(5980-5982)agA>agG	p.R1994R	PCLO_ENST00000423517.2_Silent_p.R1994R	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTTCTGAAAGTCTTATCTTTT	0.388																																						uc003uhx.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(5980-5982)agA>agG		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.							127.0	130.0	129.0					7																	82584287		1856	4091	5947	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82584287T>C	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.5982A>G	7.37:g.82584287T>C						PCLO_uc003uhv.2_Silent_p.R1994R	p.R1994R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			4	6271	-			1925						Silent	SNP	ENST00000333891.9	37	c.5982A>G	CCDS47630.1																																																																																				0.388	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
TRRAP	8295	broad.mit.edu	37	7	98509724	98509724	+	Missense_Mutation	SNP	G	G	A	rs200324989		TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr7:98509724G>A	ENST00000359863.4	+	18	2296	c.2087G>A	c.(2086-2088)cGc>cAc	p.R696H	TRRAP_ENST00000446306.3_Missense_Mutation_p.R695H|TRRAP_ENST00000355540.3_Missense_Mutation_p.R696H	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	696					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTCCTTGATCGCCTGCCAGAA	0.468																																						uc003upp.3																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(2086-2088)cGc>cAc		Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.		G	HIS/ARG	0,4406		0,0,2203	199.0	177.0	184.0		2087	5.7	1.0	7		184	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TRRAP	NM_003496.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	696/3831	98509724	1,13005	2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98509724G>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.2087G>A	7.37:g.98509724G>A	ENSP00000352925:p.Arg696His					TRRAP_uc011kis.2_Missense_Mutation_p.R696H|TRRAP_uc003upr.3_Missense_Mutation_p.R388H	p.R696H	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		17	2296	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		696					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.2087G>A	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.345451|5.345451	0.95807|0.95807	0.0|0.0	1.16E-4|1.16E-4	ENSG00000196367|ENSG00000196367	ENST00000456197|ENST00000359863;ENST00000355540;ENST00000446306	.|T;T	.|0.03663	.|3.85;3.86	5.7|5.7	5.7|5.7	0.88788|0.88788	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.15046|0.15046	0.0363|0.0363	L|L	0.46614|0.46614	1.455|1.455	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.76071	.|0.987;0.95;0.95	T|T	0.00114|0.00114	-1.2041|-1.2041	5|10	.|0.62326	.|D	.|0.03	.|.	19.8247|19.8247	0.96612|0.96612	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|696;410;696	.|Q9Y4A5-2;Q59FH1;Q9Y4A5	.|.;.;TRRAP_HUMAN	T|H	411|696;696;694	.|ENSP00000352925:R696H;ENSP00000347733:R696H	.|ENSP00000347733:R696H	A|R	+|+	1|2	0|0	TRRAP|TRRAP	98347660|98347660	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	9.869000|9.869000	0.99810|0.99810	2.696000|2.696000	0.92011|0.92011	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.468	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496	
PLOD3	8985	broad.mit.edu	37	7	100852149	100852149	+	Silent	SNP	T	T	C			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr7:100852149T>C	ENST00000223127.3	-	16	2171	c.1773A>G	c.(1771-1773)tcA>tcG	p.S591S		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	591					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	GCCGGCCGCCTGACCACTGGC	0.582																																						uc003uyd.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1771-1773)tcA>tcG		Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 (PLOD3), mRNA.	Succinic acid(DB00139)|Vitamin C(DB00126)						83.0	68.0	73.0					7																	100852149		2203	4300	6503	SO:0001819	synonymous_variant	8985				protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	g.chr7:100852149T>C	AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"""lysyl hydroxlase 3"""	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.1773A>G	7.37:g.100852149T>C							p.S591S	NM_001084	NP_001075	O60568	PLOD3_HUMAN			15	2229	-	Lung NSC(181;0.168)|all_lung(186;0.215)		591					B2R6W6|Q540C3	Silent	SNP	ENST00000223127.3	37	c.1773A>G	CCDS5715.1	.	.	.	.	.	.	.	.	.	.	T	9.174	1.021789	0.19433	.	.	ENSG00000106397	ENST00000454310	.	.	.	4.36	-1.29	0.09288	.	.	.	.	.	T	0.39545	0.1082	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32079	-0.9920	4	.	.	.	-20.5468	1.079	0.01638	0.4472:0.1054:0.1483:0.2991	.	.	.	.	R	166	.	.	Q	-	2	0	PLOD3	100638869	0.030000	0.19436	0.999000	0.59377	0.827000	0.46813	-0.953000	0.03877	0.159000	0.19401	0.459000	0.35465	CAG		0.582	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347470.1		
KIAA1549	57670	broad.mit.edu	37	7	138603251	138603251	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr7:138603251G>A	ENST00000422774.1	-	2	1169	c.1121C>T	c.(1120-1122)cCa>cTa	p.P374L	KIAA1549_ENST00000440172.1_Missense_Mutation_p.P374L|KIAA1549_ENST00000242365.4_Missense_Mutation_p.P324L			Q9HCM3	K1549_HUMAN	KIAA1549	374						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AACATCAGTTGGTGAAGCAGA	0.507			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.(1120-1122)cCa>cTa		Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.							133.0	139.0	137.0					7																	138603251		2110	4229	6339	SO:0001583	missense	57670					integral to membrane		g.chr7:138603251G>A		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.1121C>T	7.37:g.138603251G>A	ENSP00000416040:p.Pro374Leu					KIAA1549_uc011kqj.2_Missense_Mutation_p.P374L	p.P374L	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN			1	1170	-			374					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.1121C>T	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	G	8.648	0.897654	0.17686	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.22945	1.93;1.93;1.93	4.84	2.05	0.26809	.	1.337120	0.05082	N	0.483763	T	0.16471	0.0396	N	0.14661	0.345	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.09377	0.002;0.004	T	0.28522	-1.0041	10	0.33141	T	0.24	.	7.4294	0.27118	0.2734:0.0:0.7266:0.0	.	374;374	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	L	374;324;374	ENSP00000406661:P374L;ENSP00000242365:P324L;ENSP00000416040:P374L	ENSP00000242365:P324L	P	-	2	0	KIAA1549	138253791	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	1.366000	0.34193	0.253000	0.21552	-0.142000	0.14014	CCA		0.507	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1		
TRPV5	56302	broad.mit.edu	37	7	142609825	142609825	+	Silent	SNP	A	A	G			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr7:142609825A>G	ENST00000265310.1	-	13	1959	c.1611T>C	c.(1609-1611)ttT>ttC	p.F537F		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	537					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TAACAGTGAGAAAAAGCTCAA	0.502																																						uc003wby.1																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67						c.(1609-1611)ttT>ttC		Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.							202.0	171.0	181.0					7																	142609825		2203	4300	6503	SO:0001819	synonymous_variant	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142609825A>G	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1611T>C	7.37:g.142609825A>G							p.F537F	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN			12	1875	-	Melanoma(164;0.059)		537					A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Silent	SNP	ENST00000265310.1	37	c.1611T>C	CCDS5875.1																																																																																				0.502	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841	
ASIC3	9311	broad.mit.edu	37	7	150749681	150749681	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr7:150749681C>T	ENST00000349064.5	+	11	1736	c.1538C>T	c.(1537-1539)gCc>gTc	p.A513V	ASIC3_ENST00000357922.4_Silent_p.C493C|ASIC3_ENST00000297512.8_Missense_Mutation_p.P520S	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	513					cation transmembrane transport (GO:0098655)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ion transmembrane transport (GO:0034220)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|response to heat (GO:0009408)|sensory perception (GO:0007600)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|enterobactin transporter activity (GO:0042931)|ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)										CCTCCCTGTGCCGTCACCAAG	0.632																																						uc003wio.2																			0											c.(1558-1560)Ccg>Tcg		Homo sapiens amiloride-sensitive cation channel 3 (ACCN3), transcript variant 2, mRNA.							182.0	130.0	148.0					7																	150749681		2203	4300	6503	SO:0001583	missense	9311				sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity	g.chr7:150749681C>T	AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	101	protein-coding gene	gene with protein product	"""testis sodium channel 1"""	611741	"""amiloride-sensitive cation channel 3, testis"", ""amiloride-sensitive cation channel 3"""	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.1538C>T	7.37:g.150749681C>T	ENSP00000344838:p.Ala513Val					ASIC3_uc003win.2_Missense_Mutation_p.A513V|ASIC3_uc003wip.2_Silent_p.C493C|ASIC3_uc003wiq.2_Non-coding_Transcript	p.P520S	NM_020321	NP_064717	Q9UHC3	ACCN3_HUMAN			10	1926	+			508					B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Missense_Mutation	SNP	ENST00000349064.5	37	c.1558C>T	CCDS5916.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.808|6.808	0.518163|0.518163	0.13005|0.13005	.|.	.|.	ENSG00000213199|ENSG00000213199	ENST00000349064|ENST00000297512	T|T	0.67345|0.63913	-0.26|-0.07	4.6|4.6	4.6|4.6	0.57074|0.57074	.|.	.|.	.|.	.|.	.|.	T|T	0.41673|0.41673	0.1169|0.1169	.|.	.|.	.|.	0.23727|0.23727	N|N	0.997001|0.997001	B|B	0.23377|0.30281	0.084|0.275	B|B	0.24155|0.25405	0.051|0.06	T|T	0.10154|0.10154	-1.0642|-1.0642	8|8	0.41790|0.11485	T|T	0.15|0.65	-1.0939|-1.0939	13.0963|13.0963	0.59195|0.59195	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	513|520	Q9UHC3|Q9UHC3-3	ACCN3_HUMAN|.	V|S	513|520	ENSP00000344838:A513V|ENSP00000297512:P520S	ENSP00000344838:A513V|ENSP00000297512:P520S	A|P	+|+	2|1	0|0	ACCN3|ACCN3	150380614|150380614	0.004000|0.004000	0.15560|0.15560	0.766000|0.766000	0.31476|0.31476	0.283000|0.283000	0.27025|0.27025	1.161000|1.161000	0.31773|0.31773	2.546000|2.546000	0.85860|0.85860	0.462000|0.462000	0.41574|0.41574	GCC|CCG		0.632	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351725.1	NM_004769	
ECM2	1842	broad.mit.edu	37	9	95263237	95263237	+	Missense_Mutation	SNP	A	A	G			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr9:95263237A>G	ENST00000344604.5	-	9	1852	c.1703T>C	c.(1702-1704)aTt>aCt	p.I568T	ECM2_ENST00000444490.2_Missense_Mutation_p.I546T|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	568					cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						GATCCGTTCAATCTGGTTCCC	0.478																																						uc011lty.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(1702-1704)aTt>aCt		Homo sapiens extracellular matrix protein 2, female organ and adipocyte specific (ECM2), transcript variant 1, mRNA.							152.0	135.0	141.0					9																	95263237		2203	4300	6503	SO:0001583	missense	1842				cell-matrix adhesion		integrin binding	g.chr9:95263237A>G	AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"""matrix glycoprotein SC1/ECM2"""	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.1703T>C	9.37:g.95263237A>G	ENSP00000344758:p.Ile568Thr					CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|ECM2_uc004asf.4_Missense_Mutation_p.I546T|ECM2_uc004asg.3_Missense_Mutation_p.I546T|ECM2_uc010mqz.2_5'UTR	p.I568T	NM_001393	NP_001384	O94769	ECM2_HUMAN			8	1890	-			568					B2R730|E2PU11|Q5T9F2|Q7Z3D0	Missense_Mutation	SNP	ENST00000344604.5	37	c.1703T>C	CCDS6698.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.078591	0.76528	.	.	ENSG00000106823	ENST00000444490;ENST00000344604	T;T	0.30448	1.53;5.11	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.69513	0.3119	H	0.96633	3.855	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.81245	-0.1020	10	0.87932	D	0	.	15.6503	0.77088	1.0:0.0:0.0:0.0	.	568;546;546	O94769;B4DK93;O94769-2	ECM2_HUMAN;.;.	T	546;568	ENSP00000393971:I546T;ENSP00000344758:I568T	ENSP00000344758:I568T	I	-	2	0	ECM2	94303058	1.000000	0.71417	0.997000	0.53966	0.830000	0.47004	8.923000	0.92808	2.161000	0.67846	0.482000	0.46254	ATT		0.478	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	NM_001393	
RIBC1	158787	broad.mit.edu	37	X	53455349	53455349	+	Silent	SNP	G	G	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chrX:53455349G>A	ENST00000375327.3	+	5	471	c.318G>A	c.(316-318)aaG>aaA	p.K106K	RIBC1_ENST00000457095.1_Silent_p.K106K|RIBC1_ENST00000414955.2_Intron	NM_001031745.2	NP_001026915.1	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1	106										lung(2)	2						AGCAGCTCAAGAACGGGCGTG	0.512																																						uc004dsk.3																			0				lung(2)	2						c.(316-318)aaG>aaA		Homo sapiens RIB43A domain with coiled-coils 1 (RIBC1), transcript variant 1, mRNA.							96.0	82.0	87.0					X																	53455349		2203	4300	6503	SO:0001819	synonymous_variant	158787							g.chrX:53455349G>A	AK057345	CCDS14353.1, CCDS35299.1, CCDS59168.1	Xp11.23	2006-04-12			ENSG00000158423	ENSG00000158423			26537	protein-coding gene	gene with protein product							Standard	NM_144968		Approved	FLJ32783	uc004dsk.4	Q8N443	OTTHUMG00000021615	ENST00000375327.3:c.318G>A	X.37:g.53455349G>A						RIBC1_uc004dsj.1_Silent_p.K106K|RIBC1_uc011mog.1_Intron	p.K106K	NM_001031745	NP_001026915	Q8N443	RIBC1_HUMAN			4	522	+			106					B4E297|E9PDU2|Q5H931|Q96A80	Silent	SNP	ENST00000375327.3	37	c.318G>A	CCDS35299.1																																																																																				0.512	RIBC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056762.1	NM_144968	
CT45A5	441521	broad.mit.edu	37	X	134947910	134947910	+	Nonsense_Mutation	SNP	G	G	A	rs146235294	byFrequency	TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chrX:134947910G>A	ENST00000463085.2	-	3	504	c.415C>T	c.(415-417)Cga>Tga	p.R139*	CT45A5_ENST00000491480.1_Nonsense_Mutation_p.R139*|CT45A5_ENST00000370724.3_Nonsense_Mutation_p.R139*|CT45A4_ENST00000420087.2_Intron			Q6NSH3	CT455_HUMAN	cancer/testis antigen family 45, member A5	139										endometrium(1)|large_intestine(2)|lung(6)	9						TACTTACTTCGTCCAAGGCAT	0.383													.|||	1	0.000264901	0.0	0.0	3775	,	,		15388	0.001		0.0	False		,,,				2504	0.0					uc004eze.3																			0		p.R139Q(2)		endometrium(1)|large_intestine(2)|lung(6)	9						c.(415-417)Cga>Tga		Homo sapiens cancer/testis antigen family 45, member A5 (CT45A5), transcript variant 1, mRNA.		G	stop/ARG,stop/ARG	1,3816		0,1,0,1631,553	181.0	152.0	162.0		415,415	-1.3	0.0	X	dbSNP_134	162	4,6689		0,3,1,2425,1836	yes	stop-gained,stop-gained	CT45A5	NM_001007551.3,NM_001172288.1	,	0,4,1,4056,2389	AA,AG,A,GG,G		0.0598,0.0262,0.0476	,	139/190,139/190	134947910	5,10505	2185	4265	6450	SO:0001587	stop_gained	441521							g.chrX:134947910G>A	AY743713	CCDS35406.1	Xq26.3	2009-03-12				ENSG00000269586			33270	protein-coding gene	gene with protein product	"""cancer/testis antigen CT45-5"""	300796				15905330	Standard	XM_006724759		Approved	CT45-5, CT45.5	uc022ces.1	Q6NSH3		ENST00000463085.2:c.415C>T	X.37:g.134947910G>A	ENSP00000424778:p.Arg139*					CT45A5_uc022ces.1_Nonsense_Mutation_p.R139*|CT45A5_uc011mvu.2_Nonsense_Mutation_p.R139*	p.R139*	NM_001007551	NP_001165759	Q6NSH3	CT455_HUMAN			2	660	-			139					A8K842|B7ZMC5	Nonsense_Mutation	SNP	ENST00000463085.2	37	c.415C>T	CCDS35406.1	1	6.027727546714888E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	12.48	1.950148	0.34377	2.62E-4	5.98E-4	ENSG00000242284	ENST00000370724;ENST00000491480	.	.	.	2.4	-1.33	0.09172	.	0.576836	0.16638	U	0.205762	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	0.6057	0.00752	0.1766:0.2399:0.339:0.2445	.	.	.	.	X	139	.	ENSP00000359759:R139X	R	-	1	2	CT45A5	134775576	0.765000	0.28485	0.021000	0.16686	0.037000	0.13140	0.132000	0.15891	-0.142000	0.11354	0.365000	0.22127	CGA		0.383	CT45A5-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472589.1	NM_001007551	
AFF2	2334	broad.mit.edu	37	X	148069012	148069012	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chrX:148069012G>A	ENST00000370460.2	+	20	4218	c.3739G>A	c.(3739-3741)Gtc>Atc	p.V1247I	AFF2_ENST00000342251.3_Missense_Mutation_p.V1214I|AFF2_ENST00000370457.5_Missense_Mutation_p.V1212I|AFF2_ENST00000286437.5_Missense_Mutation_p.V888I	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1247					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TGCCAGCCACGTCAACATCAC	0.498																																						uc004fcp.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(3739-3741)Gtc>Atc		Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.							206.0	160.0	175.0					X																	148069012		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148069012G>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3739G>A	X.37:g.148069012G>A	ENSP00000359489:p.Val1247Ile					AFF2_uc004fcq.3_Missense_Mutation_p.V1237I|AFF2_uc004fcr.3_Missense_Mutation_p.V1208I|AFF2_uc011mxb.2_Missense_Mutation_p.V1212I|AFF2_uc004fcs.3_Missense_Mutation_p.V1212I|AFF2_uc011mxc.2_Missense_Mutation_p.V888I	p.V1247I	NM_002025	NP_002016	P51816	AFF2_HUMAN			19	4218	+	Acute lymphoblastic leukemia(192;6.56e-05)		1247					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.3739G>A	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876190	0.91664	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000001	D	0.87881	0.6289	M	0.85859	2.78	0.54753	D	0.99998	P;D;D;D;D;D	0.76494	0.776;0.991;0.99;0.999;0.999;0.999	P;D;D;D;D;D	0.74348	0.613;0.983;0.937;0.924;0.924;0.954	D	0.88319	0.2961	10	0.49607	T	0.09	.	18.9513	0.92642	0.0:0.0:1.0:0.0	.	888;1212;1212;1208;1237;1247	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	I	1247;1212;1214;888	ENSP00000359489:V1247I;ENSP00000359486:V1212I;ENSP00000345459:V1214I;ENSP00000286437:V888I	ENSP00000286437:V888I	V	+	1	0	AFF2	147876718	1.000000	0.71417	0.997000	0.53966	0.845000	0.48019	6.533000	0.73829	2.423000	0.82170	0.600000	0.82982	GTC		0.498	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025	
