#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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
PLEKHN1	84069	broad.mit.edu	37	1	909268	909268	+	Missense_Mutation	SNP	C	C	T	rs140958781	byFrequency	TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:909268C>T	ENST00000379409.2	+	13	1676	c.1646C>T	c.(1645-1647)tCg>tTg	p.S549L	PLEKHN1_ENST00000379410.3_Missense_Mutation_p.S497L|PLEKHN1_ENST00000379407.3_Missense_Mutation_p.S462L			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	549										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CCACTCCCCTCGGTGCCTGTG	0.697																																						uc001ace.2		NaN																	0					0						c.(1645-1647)TCG>TTG		pleckstrin homology domain containing, family N		C	LEU/SER,LEU/SER	1,4397	2.1+/-5.4	0,1,2198	30.0	35.0	33.0		1385,1490	0.4	0.0	1	dbSNP_134	33	2,8588	2.2+/-6.3	0,2,4293	yes	missense,missense	PLEKHN1	NM_001160184.1,NM_032129.2	145,145	0,3,6491	TT,TC,CC		0.0233,0.0227,0.0231	benign,benign	462/577,497/612	909268	3,12985	2199	4295	6494	SO:0001583	missense	84069							g.chr1:909268C>T	AL136730	CCDS4.1, CCDS53256.1	1p36.33	2013-01-11			ENSG00000187583	ENSG00000187583		"""Pleckstrin homology (PH) domain containing"""	25284	protein-coding gene	gene with protein product						11230166	Standard	NM_032129		Approved	DKFZP434H2010	uc001acd.3	Q494U1	OTTHUMG00000040756	ENST00000379409.2:c.1646C>T	1.37:g.909268C>T	ENSP00000368719:p.Ser549Leu					PLEKHN1_uc001acd.2_Missense_Mutation_p.S497L|PLEKHN1_uc001acf.2_Missense_Mutation_p.S462L	p.S549L	NM_032129	NP_115505	Q494U1	PKHN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)	13	1681	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	549					Q494U2|Q5SV98|Q9H0M7	Missense_Mutation	SNP	ENST00000379409.2	37	c.1646C>T		.	.	.	.	.	.	.	.	.	.	c	2.627	-0.287266	0.05605	2.27E-4	2.33E-4	ENSG00000187583	ENST00000379410;ENST00000379407;ENST00000379409	T;T;T	0.47177	0.89;0.85;0.88	4.65	0.439	0.16567	.	2.340600	0.01451	N	0.015507	T	0.33381	0.0861	L	0.29908	0.895	0.09310	N	1	B;B;B	0.13145	0.003;0.007;0.003	B;B;B	0.06405	0.001;0.002;0.001	T	0.10613	-1.0622	10	0.08599	T	0.76	.	6.213	0.20640	0.0:0.6021:0.1381:0.2598	.	462;549;497	Q494U1-3;Q494U1;Q494U1-2	.;PKHN1_HUMAN;.	L	497;462;549	ENSP00000368720:S497L;ENSP00000368717:S462L;ENSP00000368719:S549L	ENSP00000368717:S462L	S	+	2	0	PLEKHN1	899131	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.240000	0.18042	-0.280000	0.09154	-1.524000	0.00929	TCG		0.697	PLEKHN1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000473256.1		NM_032129		28	75	0	0	0	0.104719	0	28	75		
TP73	7161	broad.mit.edu	37	1	3644231	3644231	+	Silent	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:3644231C>T	ENST00000378295.4	+	8	1037	c.882C>T	c.(880-882)atC>atT	p.I294I	TP73_ENST00000346387.4_Silent_p.I294I|TP73_ENST00000604479.1_Silent_p.I294I|TP73_ENST00000354437.4_Silent_p.I294I|TP73_ENST00000378285.1_Silent_p.I245I|TP73_ENST00000378280.1_Silent_p.I245I|TP73_ENST00000357733.3_Silent_p.I294I|TP73_ENST00000378290.4_Silent_p.I223I|TP73_ENST00000603362.1_Silent_p.I294I|TP73_ENST00000378288.4_Silent_p.I245I|TP73_ENST00000604074.1_Silent_p.I294I	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	294	DNA-binding. {ECO:0000255}.				activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		AGGGCCGCATCTGCGCCTGTC	0.672																																						uc001akp.2		NaN																	0				ovary(1)|lung(1)	2						c.(880-882)ATC>ATT		tumor protein p73 isoform a							15.0	17.0	16.0					1																	3644231		2178	4283	6461	SO:0001819	synonymous_variant	7161				cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity	g.chr1:3644231C>T	AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.882C>T	1.37:g.3644231C>T						TP73_uc001akq.2_Silent_p.I294I|TP73_uc010nzj.1_Silent_p.I245I|TP73_uc001akr.2_Silent_p.I245I|TP73_uc009vlk.1_Silent_p.I245I|TP73_uc001aks.2_Silent_p.I245I|TP73_uc010nzk.1_Silent_p.I223I|TP73_uc010nzl.1_5'UTR	p.I294I	NM_005427	NP_005418	O15350	P73_HUMAN		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)	8	992	+	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)	294			DNA-binding (Potential).		B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Silent	SNP	ENST00000378295.4	37	c.882C>T	CCDS49.1																																																																																				0.672	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001468.4		NM_005427		7	14	0	0	0	0.02938	0	7	14		
TNFRSF8	943	broad.mit.edu	37	1	12202457	12202457	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:12202457G>C	ENST00000263932.2	+	15	1879	c.1657G>C	c.(1657-1659)Gag>Cag	p.E553Q	TNFRSF8_ENST00000417814.2_Missense_Mutation_p.E441Q|TNFRSF8_ENST00000479933.2_3'UTR|TNFRSF8_ENST00000413146.2_Missense_Mutation_p.E90Q	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	553					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	GGAGGAGCTGGAGGCGGACCA	0.652																																						uc001atq.2		NaN																	0				skin(2)|ovary(1)|pancreas(1)|central_nervous_system(1)	5						c.(1657-1659)GAG>CAG		tumor necrosis factor receptor superfamily,							31.0	35.0	33.0					1																	12202457		2199	4300	6499	SO:0001583	missense	943				cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		g.chr1:12202457G>C	M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.1657G>C	1.37:g.12202457G>C	ENSP00000263932:p.Glu553Gln					TNFRSF8_uc010obc.1_Missense_Mutation_p.E441Q|TNFRSF8_uc001atr.2_Missense_Mutation_p.E90Q|TNFRSF8_uc001ats.2_Missense_Mutation_p.E34Q	p.E553Q	NM_001243	NP_001234	P28908	TNR8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	15	1879	+	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	553			Cytoplasmic (Potential).		B1AN79|B9EGD9|D3YTD8|Q6P4D9	Missense_Mutation	SNP	ENST00000263932.2	37	c.1657G>C	CCDS144.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.687147	0.48097	.	.	ENSG00000120949	ENST00000263932;ENST00000417814;ENST00000413146	T;T;T	0.29397	1.57;1.57;1.57	5.4	4.46	0.54185	.	0.226584	0.29956	N	0.010772	T	0.49830	0.1580	L	0.59436	1.845	0.34487	D	0.704496	D;D	0.89917	1.0;1.0	D;D	0.80764	0.991;0.994	T	0.64474	-0.6399	10	0.72032	D	0.01	-29.3464	11.9964	0.53206	0.0:0.1745:0.8255:0.0	.	441;553	D3YTD8;P28908	.;TNR8_HUMAN	Q	553;441;90	ENSP00000263932:E553Q;ENSP00000390650:E441Q;ENSP00000398337:E90Q	ENSP00000263932:E553Q	E	+	1	0	TNFRSF8	12125044	1.000000	0.71417	0.964000	0.40570	0.075000	0.17131	3.635000	0.54309	1.222000	0.43521	0.655000	0.94253	GAG		0.652	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1				13	31	0	0	0	0.105934	0	13	31		
SPEN	23013	broad.mit.edu	37	1	16199610	16199610	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:16199610G>A	ENST00000375759.3	+	2	587	c.383G>A	c.(382-384)cGt>cAt	p.R128H		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	128	Arg-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CGAGAAGGACGTTATGAGCGG	0.488																																						uc001axk.1		NaN																	0				ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(382-384)CGT>CAT		spen homolog, transcriptional regulator							86.0	74.0	78.0					1																	16199610		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16199610G>A		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.383G>A	1.37:g.16199610G>A	ENSP00000364912:p.Arg128His					SPEN_uc010obp.1_5'Flank	p.R128H	NM_015001	NP_055816	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	2	587	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	128			Arg-rich.|By similarity.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.383G>A	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.854049	0.51270	.	.	ENSG00000065526	ENST00000375759	T	0.11712	2.75	5.46	5.46	0.80206	.	.	.	.	.	T	0.25938	0.0632	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.01036	-1.1473	9	0.72032	D	0.01	-2.7396	19.3121	0.94192	0.0:0.0:1.0:0.0	.	128	Q96T58	MINT_HUMAN	H	128	ENSP00000364912:R128H	ENSP00000364912:R128H	R	+	2	0	SPEN	16072197	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.578000	0.87016	0.555000	0.69702	CGT		0.488	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1		NM_015001		19	38	0	0	0	0.076483	0	19	38		
STPG1	90529	broad.mit.edu	37	1	24706145	24706145	+	Missense_Mutation	SNP	T	T	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:24706145T>A	ENST00000374409.1	-	5	714	c.460A>T	c.(460-462)Aat>Tat	p.N154Y	STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000337248.4_Missense_Mutation_p.N154Y|STPG1_ENST00000003583.8_Missense_Mutation_p.N107Y|STPG1_ENST00000440416.1_Missense_Mutation_p.N107Y	NM_001199012.1	NP_001185941.1	Q5TH74	STPG1_HUMAN	sperm-tail PG-rich repeat containing 1	154					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											GTTCTTACATTGTAATAGTTT	0.373																																						uc001bjc.2		NaN																	0				ovary(1)|breast(1)	2						c.(460-462)AAT>TAT		RecName: Full=UPF0490 protein C1orf201;							107.0	111.0	109.0					1																	24706145		2203	4300	6503	SO:0001583	missense	90529							g.chr1:24706145T>A	BC047705	CCDS253.1, CCDS55581.1	1p36.11	2012-10-31	2012-07-30	2012-07-30	ENSG00000001460	ENSG00000001460			28070	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 2"""	615826	"""chromosome 1 open reading frame 201"""	C1orf201		23028632	Standard	NM_001199012		Approved	FLJ33340, MAPO2	uc001bjc.3	Q5TH74	OTTHUMG00000003297	ENST00000374409.1:c.460A>T	1.37:g.24706145T>A	ENSP00000363530:p.Asn154Tyr					C1orf201_uc001bja.2_Missense_Mutation_p.N107Y|C1orf201_uc001bjb.2_Missense_Mutation_p.N62Y|C1orf201_uc001bjd.2_Missense_Mutation_p.N154Y|C1orf201_uc001bje.1_Missense_Mutation_p.N107Y|C1orf201_uc001bjf.2_Missense_Mutation_p.N22Y	p.N154Y			Q5TH74	CA201_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.48e-25)|Colorectal(126;7.29e-08)|COAD - Colon adenocarcinoma(152;3.85e-06)|GBM - Glioblastoma multiforme(114;0.000399)|BRCA - Breast invasive adenocarcinoma(304;0.00107)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00393)|READ - Rectum adenocarcinoma(331;0.0672)|Lung(427;0.145)	5	595	-		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.0191)|all_lung(284;0.0251)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.056)	154					Q49AP0|Q6P3R4|Q86VU9|Q8WVQ3	Missense_Mutation	SNP	ENST00000374409.1	37	c.460A>T	CCDS55581.1	.	.	.	.	.	.	.	.	.	.	T	17.32	3.359794	0.61403	.	.	ENSG00000001460	ENST00000374409;ENST00000440416;ENST00000003583;ENST00000337248;ENST00000438866;ENST00000374404	.	.	.	5.71	3.33	0.38152	.	0.190998	0.43919	D	0.000506	T	0.52853	0.1760	M	0.70595	2.14	0.80722	D	1	P;P	0.48016	0.845;0.904	B;P	0.46253	0.311;0.509	T	0.55444	-0.8140	9	0.72032	D	0.01	.	6.2676	0.20936	0.0:0.0843:0.1592:0.7565	.	154;107	Q5TH74;Q5TH74-3	CA201_HUMAN;.	Y	154;107;107;154;57;58	.	ENSP00000003583:N107Y	N	-	1	0	C1orf201	24578732	0.999000	0.42202	1.000000	0.80357	0.981000	0.71138	0.383000	0.20651	0.956000	0.37904	0.533000	0.62120	AAT		0.373	STPG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009172.1		NM_178122		11	53	0	0	0	0.09319	0	11	53		
ARID1A	8289	broad.mit.edu	37	1	27059204	27059204	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:27059204C>T	ENST00000324856.7	+	4	2212	c.1841C>T	c.(1840-1842)tCa>tTa	p.S614L	ARID1A_ENST00000374152.2_Missense_Mutation_p.S231L|ARID1A_ENST00000457599.2_Missense_Mutation_p.S614L	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	614					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.S614L(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CAGGCATCCTCAGCCCCCTCA	0.478			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1		NaN		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		1	Substitution - Missense(1)		urinary_tract(1)	ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(1840-1842)TCA>TTA		AT rich interactive domain 1A isoform a							139.0	125.0	130.0					1																	27059204		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27059204C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1841C>T	1.37:g.27059204C>T	ENSP00000320485:p.Ser614Leu					ARID1A_uc001bmt.1_Missense_Mutation_p.S614L|ARID1A_uc001bmu.1_Missense_Mutation_p.S614L|ARID1A_uc001bmw.1_Missense_Mutation_p.S231L	p.S614L	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	4	2214	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	614					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.1841C>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.441516	0.83993	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.03689	4.11;3.84;3.87	5.7	5.7	0.88788	.	0.128735	0.53938	D	0.000048	T	0.05868	0.0153	L	0.29908	0.895	0.80722	D	1	P;P;P	0.48294	0.851;0.908;0.851	B;B;B	0.43916	0.253;0.436;0.253	T	0.40213	-0.9575	10	0.49607	T	0.09	-8.1571	19.8172	0.96573	0.0:1.0:0.0:0.0	.	614;614;268	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	L	614;614;231	ENSP00000320485:S614L;ENSP00000387636:S614L;ENSP00000363267:S231L	ENSP00000320485:S614L	S	+	2	0	ARID1A	26931791	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.905000	0.75714	2.702000	0.92279	0.491000	0.48974	TCA		0.478	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2		NM_139135		17	30	0	0	0	0.062417	0	17	30		
PUM1	9698	broad.mit.edu	37	1	31478699	31478699	+	Splice_Site	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:31478699C>T	ENST00000257075.5	-	5	814		c.e5+1		PUM1_ENST00000373747.3_Splice_Site|PUM1_ENST00000423018.2_Intron|PUM1_ENST00000424085.2_Intron|PUM1_ENST00000373741.4_Splice_Site|PUM1_ENST00000373742.2_Intron|PUM1_ENST00000426105.2_Splice_Site|PUM1_ENST00000440538.2_Splice_Site	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1						membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		AGCCAACTTACAAATCCTCCT	0.478																																						uc001bsi.1		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.e5+1		pumilio 1 isoform 2							90.0	92.0	91.0					1																	31478699		2203	4300	6503	SO:0001630	splice_region_variant	9698				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	g.chr1:31478699C>T	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.720+1G>A	1.37:g.31478699C>T						PUM1_uc001bsg.1_Intron|PUM1_uc001bsh.1_Splice_Site_p.F240_splice|PUM1_uc001bsj.1_Splice_Site_p.F240_splice|PUM1_uc010oga.1_Intron|PUM1_uc001bsk.1_Splice_Site_p.F276_splice|PUM1_uc010ogb.1_Intron	p.F240_splice	NM_014676	NP_055491	Q14671	PUM1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	5	833	-		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)						A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Splice_Site	SNP	ENST00000257075.5	37	c.720_splice	CCDS338.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.274374	0.80580	.	.	ENSG00000134644	ENST00000257075;ENST00000373747;ENST00000525843;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000543952	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2669	0.93990	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PUM1	31251286	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.555000	0.86185	0.650000	0.86243	.		0.478	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			Intron	33	24	0	0	0	0.09836	0	33	24		
RNF220	55182	broad.mit.edu	37	1	44878109	44878109	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:44878109C>G	ENST00000355387.2	+	2	790	c.340C>G	c.(340-342)Cat>Gat	p.H114D	RNF220_ENST00000361799.2_Missense_Mutation_p.H114D|RNF220_ENST00000372247.2_Missense_Mutation_p.H114D			Q5VTB9	RN220_HUMAN	ring finger protein 220	114					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						TATGCTGAATCATAGTGGTGT	0.537																																						uc001clv.1		NaN																	0				ovary(2)	2						c.(340-342)CAT>GAT		ring finger protein 220							127.0	127.0	127.0					1																	44878109		2203	4300	6503	SO:0001583	missense	55182				protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr1:44878109C>G	AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"""RING-type (C3HC4) zinc fingers"""	25552	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 164"""	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.340C>G	1.37:g.44878109C>G	ENSP00000347548:p.His114Asp					RNF220_uc001clw.1_Missense_Mutation_p.H114D	p.H114D	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN			2	700	+			114					B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Missense_Mutation	SNP	ENST00000355387.2	37	c.340C>G	CCDS510.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.747080	0.49257	.	.	ENSG00000187147	ENST00000355387;ENST00000361799;ENST00000453887;ENST00000372247	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.66703	0.2816	L	0.29908	0.895	0.80722	D	1	P	0.50156	0.932	P	0.61397	0.888	T	0.67776	-0.5583	9	0.66056	D	0.02	.	20.066	0.97704	0.0:1.0:0.0:0.0	.	114	Q5VTB9	RN220_HUMAN	D	114	.	ENSP00000347548:H114D	H	+	1	0	RNF220	44650696	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.294000	0.78760	2.744000	0.94065	0.655000	0.94253	CAT		0.537	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4		NM_018150		108	78	0	0	0	0.139131	0	108	78		
STIL	6491	broad.mit.edu	37	1	47767334	47767334	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:47767334G>A	ENST00000360380.3	-	6	715	c.352C>T	c.(352-354)Ctt>Ttt	p.L118F	STIL_ENST00000243182.6_Missense_Mutation_p.L118F|STIL_ENST00000337817.5_Missense_Mutation_p.L118F|STIL_ENST00000396221.2_Missense_Mutation_p.L118F|STIL_ENST00000371877.3_Missense_Mutation_p.L118F	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	118					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TCCCCAGGAAGAGAAGCAGTA	0.388																																						uc001crc.1		NaN																	0				lung(2)|skin(1)	3						c.(352-354)CTT>TTT		SCL/TAL1 interrupting locus isoform 2							94.0	95.0	95.0					1																	47767334		2203	4300	6503	SO:0001583	missense	6491				cell proliferation|multicellular organismal development	centrosome|cytosol		g.chr1:47767334G>A	M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.352C>T	1.37:g.47767334G>A	ENSP00000353544:p.Leu118Phe					TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.L118F|STIL_uc010omo.1_Missense_Mutation_p.L118F|STIL_uc001crd.1_Missense_Mutation_p.L118F|STIL_uc001cre.1_Missense_Mutation_p.L118F|STIL_uc001crg.1_Missense_Mutation_p.L118F	p.L118F	NM_003035	NP_003026	Q15468	STIL_HUMAN			5	507	-		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)	118					Q5T0C5|Q68CN9	Missense_Mutation	SNP	ENST00000360380.3	37	c.352C>T	CCDS548.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.914301	0.92178	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182;ENST00000447475	T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.74928	0.3781	M	0.76574	2.34	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.75855	-0.3170	10	0.87932	D	0	-21.0478	20.3363	0.98740	0.0:0.0:1.0:0.0	.	118;118;118;118;118	E9PSF2;Q5T0C7;B7ZLW5;Q15468-2;Q15468	.;.;.;.;STIL_HUMAN	F	118	ENSP00000353544:L118F;ENSP00000337367:L118F;ENSP00000360944:L118F;ENSP00000379523:L118F;ENSP00000243182:L118F;ENSP00000411664:L118F	ENSP00000243182:L118F	L	-	1	0	STIL	47539921	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.305000	0.59110	2.814000	0.96858	0.563000	0.77884	CTT		0.388	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2		NM_003035		12	14	0	0	0	0.11911	0	12	14		
INADL	10207	broad.mit.edu	37	1	62330234	62330234	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:62330234C>G	ENST00000371158.2	+	20	2878	c.2764C>G	c.(2764-2766)Caa>Gaa	p.Q922E	INADL_ENST00000316485.6_Missense_Mutation_p.Q922E	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	922					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						ATCCGAGTCTCAAGAGGCAAG	0.483																																						uc001dab.2		NaN																	0				ovary(3)|skin(1)	4						c.(2764-2766)CAA>GAA		InaD-like							100.0	105.0	103.0					1																	62330234		2203	4300	6503	SO:0001583	missense	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62330234C>G	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.2764C>G	1.37:g.62330234C>G	ENSP00000360200:p.Gln922Glu					INADL_uc009waf.1_Missense_Mutation_p.Q922E|INADL_uc001daa.2_Missense_Mutation_p.Q922E|INADL_uc001dad.3_Missense_Mutation_p.Q619E|INADL_uc001dac.2_RNA	p.Q922E	NM_176877	NP_795352	Q8NI35	INADL_HUMAN			20	2878	+			922					O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	c.2764C>G	CCDS617.2	.	.	.	.	.	.	.	.	.	.	C	8.528	0.870328	0.17322	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.12147	2.84;2.71	5.18	0.753	0.18404	.	1.149560	0.06529	N	0.741001	T	0.10895	0.0266	L	0.57536	1.79	0.09310	N	1	B;B;B	0.30634	0.288;0.007;0.016	B;B;B	0.24701	0.055;0.006;0.014	T	0.35724	-0.9777	10	0.05351	T	0.99	.	5.3628	0.16098	0.1356:0.3895:0.3971:0.0777	.	922;922;922	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	E	922	ENSP00000360200:Q922E;ENSP00000326199:Q922E	ENSP00000255202:Q922E	Q	+	1	0	INADL	62102822	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.446000	0.21694	0.254000	0.21573	-0.315000	0.08773	CAA		0.483	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2		NM_170605		58	54	0	0	0	0.139131	0	58	54		
MSH4	4438	broad.mit.edu	37	1	76280741	76280741	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:76280741C>A	ENST00000263187.3	+	5	839	c.735C>A	c.(733-735)ttC>ttA	p.F245L		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	245					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						GGAAATACTTCAATGAAACAA	0.323								Mismatch excision repair (MMR)																														uc001dhd.1		NaN																	0				lung(3)|ovary(2)	5						c.(733-735)TTC>TTA	MMR	mutS homolog 4							76.0	79.0	78.0					1																	76280741		2203	4298	6501	SO:0001583	missense	4438				chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr1:76280741C>A	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.735C>A	1.37:g.76280741C>A	ENSP00000263187:p.Phe245Leu						p.F245L	NM_002440	NP_002431	O15457	MSH4_HUMAN			5	776	+			245					Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	37	c.735C>A	CCDS670.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.249586	0.80024	.	.	ENSG00000057468	ENST00000263187	T	0.61859	0.07	5.23	4.31	0.51392	DNA mismatch repair protein MutS, connector (2);	0.096550	0.64402	D	0.000001	T	0.72977	0.3528	M	0.88640	2.97	0.46725	D	0.999176	D	0.89917	1.0	D	0.75020	0.985	T	0.74222	-0.3735	10	0.40728	T	0.16	-12.9976	13.5726	0.61856	0.0:0.9247:0.0:0.0753	.	245	O15457	MSH4_HUMAN	L	245	ENSP00000263187:F245L	ENSP00000263187:F245L	F	+	3	2	MSH4	76053329	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.502000	0.35704	2.631000	0.89168	0.655000	0.94253	TTC		0.323	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1		NM_002440		8	34	1	0	4.68919e-08	0.069234	4.82149e-08	8	34		
ZZZ3	26009	broad.mit.edu	37	1	78031766	78031766	+	Splice_Site	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:78031766C>G	ENST00000370801.3	-	14	3042	c.2567G>C	c.(2566-2568)tGt>tCt	p.C856S	ZZZ3_ENST00000370798.1_Splice_Site_p.C362S|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	856					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						AAACACTTACCAGTCTGAACA	0.393																																						uc001dhq.2		NaN																	0				ovary(4)|large_intestine(1)	5						c.(2566-2568)TGT>TCT		zinc finger, ZZ-type containing 3							53.0	50.0	51.0					1																	78031766		2203	4300	6503	SO:0001630	splice_region_variant	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78031766C>G	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.2567+1G>C	1.37:g.78031766C>G						ZZZ3_uc001dhr.2_Missense_Mutation_p.C362S|ZZZ3_uc001dhp.2_Missense_Mutation_p.C855S	p.C856S	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN			14	3043	-			856			ZZ-type.		B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	37	c.2567G>C	CCDS677.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.110386	0.56398	.	.	ENSG00000036549	ENST00000370801;ENST00000370798	D;D	0.89270	-2.49;-2.49	4.46	4.46	0.54185	Zinc finger, ZZ-type (1);	0.000000	0.85682	D	0.000000	D	0.86176	0.5870	N	0.16166	0.38	0.80722	D	1	D;D;D	0.76494	0.989;0.978;0.999	D;P;D	0.80764	0.978;0.818;0.994	D	0.85873	0.1417	9	.	.	.	.	17.0204	0.86432	0.0:1.0:0.0:0.0	.	362;856;855	Q8IYH5-3;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	S	856;362	ENSP00000359837:C856S;ENSP00000359834:C362S	.	C	-	2	0	ZZZ3	77804354	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.625000	0.83145	2.430000	0.82344	0.655000	0.94253	TGT		0.393	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1		NM_015534	Missense_Mutation	4	15	0	0	0	0.184627	0	4	15		
FUBP1	8880	broad.mit.edu	37	1	78428504	78428504	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:78428504G>A	ENST00000370768.2	-	14	1376	c.1295C>T	c.(1294-1296)aCt>aTt	p.T432I	FUBP1_ENST00000436586.2_Missense_Mutation_p.T453I|FUBP1_ENST00000370767.1_Missense_Mutation_p.T432I	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	432	KH 4. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CTGTTGTGGAGTGCCACGAAT	0.368			"""F, N"""		oligodendroglioma																																	uc001dii.2		NaN		Rec	yes		1	1p13.1	8880		far upstream element (FUSE) binding protein 1			O					0				central_nervous_system(2)|lung(1)	3						c.(1294-1296)ACT>ATT		far upstream element-binding protein							118.0	113.0	115.0					1																	78428504		2203	4300	6503	SO:0001583	missense	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78428504G>A	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.1295C>T	1.37:g.78428504G>A	ENSP00000359804:p.Thr432Ile					FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Missense_Mutation_p.T453I	p.T432I	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN			14	1384	-			432			KH 4.		Q12828	Missense_Mutation	SNP	ENST00000370768.2	37	c.1295C>T	CCDS683.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.412225	0.25465	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586	T;T;T	0.34072	1.38;1.38;1.38	5.67	4.75	0.60458	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.049654	0.85682	D	0.000000	T	0.30103	0.0754	M	0.69248	2.105	0.52501	D	0.999958	B;P	0.42757	0.425;0.789	B;B	0.43194	0.3;0.411	T	0.15723	-1.0427	10	0.51188	T	0.08	-20.3555	15.1032	0.72299	0.0686:0.0:0.9314:0.0	.	453;432	B4DT31;Q96AE4	.;FUBP1_HUMAN	I	431;432;432;431;453	ENSP00000359803:T432I;ENSP00000359804:T432I;ENSP00000389536:T453I	ENSP00000294623:T431I	T	-	2	0	FUBP1	78201092	1.000000	0.71417	1.000000	0.80357	0.013000	0.08279	7.878000	0.87231	1.533000	0.49186	-0.150000	0.13652	ACT		0.368	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3		NM_003902		3	30	0	0	0	0.115264	0	3	30		
IFI44L	10964	broad.mit.edu	37	1	79107468	79107468	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:79107468G>A	ENST00000370751.5	+	9	1512	c.1333G>A	c.(1333-1335)Gag>Aag	p.E445K	IFI44L_ENST00000342282.3_Missense_Mutation_p.E187K|IFI44L_ENST00000476521.1_3'UTR	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	445					defense response to virus (GO:0051607)|immune response (GO:0006955)	cytoplasm (GO:0005737)				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						AGGTGCAATTGAGAGAGCGTT	0.448																																						uc010oro.1		NaN																	0					0						c.(1333-1335)GAG>AAG		interferon-induced protein 44-like							300.0	280.0	287.0					1																	79107468		2203	4300	6503	SO:0001583	missense	10964					cytoplasm		g.chr1:79107468G>A	AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959			17817	protein-coding gene	gene with protein product		613975	"""chromosome 1 open reading frame 29"""	C1orf29			Standard	NM_006820		Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	ENST00000370751.5:c.1333G>A	1.37:g.79107468G>A	ENSP00000359787:p.Glu445Lys					IFI44L_uc010orp.1_Missense_Mutation_p.E182K|IFI44L_uc010orq.1_Missense_Mutation_p.E182K	p.E445K	NM_006820	NP_006811	Q53G44	IF44L_HUMAN			9	1512	+			445					Q86TE1|Q96B64|Q99984	Missense_Mutation	SNP	ENST00000370751.5	37	c.1333G>A	CCDS687.2	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.596958	0.00857	.	.	ENSG00000137959	ENST00000370751;ENST00000342282	T;T	0.28895	3.18;1.59	3.12	-3.96	0.04106	.	16.219000	0.00166	N	0.000002	T	0.02571	0.0078	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17137	-1.0379	10	0.15499	T	0.54	.	4.5935	0.12319	0.5412:0.0:0.2857:0.1732	.	445	Q53G44	IF44L_HUMAN	K	445;187	ENSP00000359787:E445K;ENSP00000342833:E187K	ENSP00000342833:E187K	E	+	1	0	IFI44L	78880056	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.040000	0.03546	-0.980000	0.03524	-1.375000	0.01183	GAG		0.448	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026834.3		NM_006820		44	121	0	0	0	0.139131	0	44	121		
GBP1	2633	broad.mit.edu	37	1	89522638	89522638	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:89522638C>G	ENST00000370473.4	-	7	1273	c.1054G>C	c.(1054-1056)Gag>Cag	p.E352Q	GBP1_ENST00000484970.1_5'Flank	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	352					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		TCCAGCAGCTCCTGGAGGGTT	0.517																																						uc001dmx.2		NaN																	0				ovary(1)|skin(1)	2						c.(1054-1056)GAG>CAG		guanylate binding protein 1,							93.0	91.0	92.0					1																	89522638		2203	4298	6501	SO:0001583	missense	2633				interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89522638C>G	BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"""guanylate binding protein 1, interferon-inducible, 67kDa"""			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.1054G>C	1.37:g.89522638C>G	ENSP00000359504:p.Glu352Gln						p.E352Q	NM_002053	NP_002044	P32455	GBP1_HUMAN		all cancers(265;0.0156)|Epithelial(280;0.0291)	7	1274	-		Lung NSC(277;0.123)	352					D3DT26|Q5T8M1	Missense_Mutation	SNP	ENST00000370473.4	37	c.1054G>C	CCDS718.1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.931264	0.73327	.	.	ENSG00000117228	ENST00000370473;ENST00000542693	T	0.02579	4.24	4.8	4.8	0.61643	Guanylate-binding protein, C-terminal (3);	0.183006	0.46145	D	0.000308	T	0.09247	0.0228	M	0.79805	2.47	0.34099	D	0.661647	D	0.65815	0.995	D	0.66979	0.948	T	0.01090	-1.1455	10	0.62326	D	0.03	.	15.3412	0.74300	0.0:1.0:0.0:0.0	.	352	P32455	GBP1_HUMAN	Q	352;315	ENSP00000359504:E352Q	ENSP00000359504:E352Q	E	-	1	0	GBP1	89295226	0.980000	0.34600	1.000000	0.80357	0.776000	0.43924	2.291000	0.43540	2.210000	0.71456	0.491000	0.48974	GAG		0.517	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029289.3		NM_002053		18	48	0	0	0	0.069288	0	18	48		
AMY2B	280	broad.mit.edu	37	1	104116527	104116527	+	Silent	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:104116527C>T	ENST00000361355.4	+	6	1327	c.711C>T	c.(709-711)ttC>ttT	p.F237F	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	237					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GTAACTGGTTCCCTGCAGGAA	0.363																																						uc001duq.2		NaN																	0					0						c.(709-711)TTC>TTT		amylase, pancreatic, alpha-2B precursor							144.0	144.0	144.0					1																	104116527		2203	4298	6501	SO:0001819	synonymous_variant	280				carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	g.chr1:104116527C>T	M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.711C>T	1.37:g.104116527C>T						AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Silent_p.F237F|AMY2B_uc001dus.1_5'Flank	p.F237F	NM_020978	NP_066188	P19961	AMY2B_HUMAN		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)	6	1327	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	237					B3KTI1|B3KXB7|D3DT76|Q9UBH3	Silent	SNP	ENST00000361355.4	37	c.711C>T	CCDS782.1																																																																																				0.363	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030318.1		NM_020978		32	35	0	0	0	0.139131	0	32	35		
NBPF15	284565	broad.mit.edu	37	1	148754879	148754879	+	Missense_Mutation	SNP	A	A	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:148754879A>T	ENST00000417839.1	+	14	1725	c.1535A>T	c.(1534-1536)cAg>cTg	p.Q512L		NM_001102663.1	NP_001096133	Q5SXJ2	NBPFG_HUMAN		512	NBPF 5. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4	all_hematologic(923;0.032)					GAAGTCTTGCAGGACTCACTG	0.468																																						uc010pba.1		NaN																	0					0						c.(1534-1536)CAG>CTG		hypothetical protein LOC728936																																				SO:0001583	missense	728936							g.chr1:148754879A>T																												ENST00000417839.1:c.1535A>T	1.37:g.148754879A>T	ENSP00000395369:p.Gln512Leu					NBPF16_uc009wkt.1_Missense_Mutation_p.Q292L	p.Q512L	NM_001102663	NP_001096133					14	1726	+	all_hematologic(923;0.032)							A8MPT6	Missense_Mutation	SNP	ENST00000417839.1	37	c.1535A>T	CCDS41384.1	.	.	.	.	.	.	.	.	.	.	a	4.411	0.075988	0.08485	.	.	ENSG00000203827	ENST00000417839;ENST00000254372	T	0.12465	2.68	0.185	-0.371	0.12525	DUF1220 (2);	.	.	.	.	T	0.14356	0.0347	M	0.66939	2.045	0.09310	N	1	D;B	0.67145	0.996;0.02	D;B	0.85130	0.997;0.097	T	0.07578	-1.0765	8	0.72032	D	0.01	.	.	.	.	.	512;322	Q5SXJ2;B4DRP3	NBPFG_HUMAN;.	L	512	ENSP00000395369:Q512L	ENSP00000254372:Q512L	Q	+	2	0	NBPF16	147021503	1.000000	0.71417	0.011000	0.14972	0.012000	0.07955	0.699000	0.25586	-0.785000	0.04522	-0.782000	0.03352	CAG		0.468	NBPF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097693.1				3	47	0	0	0	0.115264	0	3	47		
SSR2	6746	broad.mit.edu	37	1	155989830	155989830	+	Silent	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:155989830C>T	ENST00000295702.4	-	2	200	c.129G>A	c.(127-129)caG>caA	p.Q43Q	SSR2_ENST00000480567.1_Silent_p.Q43Q|SSR2_ENST00000529008.1_Silent_p.Q43Q|SSR2_ENST00000496742.1_Silent_p.Q43Q	NM_003145.3	NP_003136.1	P43308	SSRB_HUMAN	signal sequence receptor, beta (translocon-associated protein beta)	43					cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|stomach(1)	10	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGATGTTGTACTGCAAGGTCA	0.473																																						uc001fmx.2		NaN																	0					0						c.(127-129)CAG>CAA		signal sequence receptor, beta precursor							120.0	111.0	114.0					1																	155989830		2203	4300	6503	SO:0001819	synonymous_variant	6746				cotranslational protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	signal sequence binding	g.chr1:155989830C>T	BC000341	CCDS1126.1	1q21-q23	2008-02-05			ENSG00000163479	ENSG00000163479			11324	protein-coding gene	gene with protein product		600867				7789174	Standard	NM_003145		Approved	TLAP, TRAPB	uc001fmx.3	P43308	OTTHUMG00000017456	ENST00000295702.4:c.129G>A	1.37:g.155989830C>T						SSR2_uc001fmw.2_RNA|SSR2_uc001fmy.2_RNA|SSR2_uc010pgv.1_Silent_p.Q62Q|SSR2_uc010pgw.1_Silent_p.Q62Q	p.Q43Q	NM_003145	NP_003136	P43308	SSRB_HUMAN			2	209	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		43			Lumenal (Potential).		B2R9K9|D3DVA7|Q53HI0|Q5VY95|Q5VY96|Q6IB31|Q9BWE4	Silent	SNP	ENST00000295702.4	37	c.129G>A	CCDS1126.1																																																																																				0.473	SSR2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046172.2		NM_003145		8	65	0	0	0	0.069234	0	8	65		
KIRREL	55243	broad.mit.edu	37	1	158059548	158059548	+	Silent	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:158059548G>C	ENST00000359209.6	+	10	1279	c.1212G>C	c.(1210-1212)gtG>gtC	p.V404V	KIRREL_ENST00000368173.3_Silent_p.V420V|KIRREL_ENST00000360089.4_Silent_p.V240V|KIRREL_ENST00000392272.2_Silent_p.V301V|KIRREL_ENST00000368172.1_Silent_p.V218V|KIRREL_ENST00000416935.2_Silent_p.V304V			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	404	Ig-like C2-type 5.				excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					AGTATGCTGTGAGGGGTGACG	0.602																																						uc001frn.3		NaN																	0				ovary(1)	1						c.(1210-1212)GTG>GTC		kin of IRRE like precursor							149.0	133.0	139.0					1																	158059548		2203	4300	6503	SO:0001819	synonymous_variant	55243					integral to membrane		g.chr1:158059548G>C	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.1212G>C	1.37:g.158059548G>C						KIRREL_uc010pib.1_Silent_p.V304V|KIRREL_uc009wsq.2_Silent_p.V240V|KIRREL_uc001fro.3_Silent_p.V218V	p.V404V	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN			10	1616	+	all_hematologic(112;0.0378)		404			Ig-like C2-type 5.|Extracellular (Potential).		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Silent	SNP	ENST00000359209.6	37	c.1212G>C	CCDS1172.2																																																																																				0.602	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3		NM_018240		38	211	0	0	0	0.139131	0	38	211		
DDR2	4921	broad.mit.edu	37	1	162750019	162750019	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:162750019C>A	ENST00000367922.3	+	19	2989	c.2551C>A	c.(2551-2553)Caa>Aaa	p.Q851K	DDR2_ENST00000367921.3_Missense_Mutation_p.Q851K|RN7SL861P_ENST00000473793.2_RNA	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	851					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	TCTGCTCCTTCAACAAGGCGA	0.527																																					NSCLC(161;314 2006 8283 19651 23192)	uc001gcf.2		NaN																	0				lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6						c.(2551-2553)CAA>AAA		discoidin domain receptor family, member 2							144.0	127.0	132.0					1																	162750019		2203	4300	6503	SO:0001583	missense	4921				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:162750019C>A	AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.2551C>A	1.37:g.162750019C>A	ENSP00000356899:p.Gln851Lys					DDR2_uc001gcg.2_Missense_Mutation_p.Q851K|uc001gch.1_5'Flank	p.Q851K	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.113)		19	3016	+	all_hematologic(112;0.115)		851			Cytoplasmic (Potential).		Q7Z730	Missense_Mutation	SNP	ENST00000367922.3	37	c.2551C>A	CCDS1241.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.378738	0.61735	.	.	ENSG00000162733	ENST00000367922;ENST00000367921	D;D	0.82984	-1.67;-1.67	5.66	5.66	0.87406	.	0.161054	0.52532	D	0.000064	T	0.56217	0.1970	N	0.04768	-0.165	0.27806	N	0.942312	B	0.19331	0.035	B	0.17722	0.019	T	0.58103	-0.7695	9	0.46703	T	0.11	.	15.2607	0.73621	0.0:1.0:0.0:0.0	.	851	Q16832	DDR2_HUMAN	K	851	ENSP00000356899:Q851K;ENSP00000356898:Q851K	ENSP00000356898:Q851K	Q	+	1	0	DDR2	161016643	0.018000	0.18449	0.994000	0.49952	0.981000	0.71138	2.673000	0.46858	2.671000	0.90904	0.650000	0.86243	CAA		0.527	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2		NM_006182		12	93	1	0	2.68362e-12	0.09319	2.83031e-12	12	93		
ADCY10	55811	broad.mit.edu	37	1	167792259	167792259	+	Silent	SNP	G	G	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:167792259G>T	ENST00000367851.4	-	29	4339	c.4155C>A	c.(4153-4155)atC>atA	p.I1385I	RP1-313L4.3_ENST00000451545.1_RNA|ADCY10_ENST00000545172.1_Silent_p.I1232I|ADCY10_ENST00000367848.1_Silent_p.I1293I	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1385					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AATAAAGCAGGATGTCCAAGC	0.502																																						uc001ger.2		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(4153-4155)ATC>ATA		adenylate cyclase 10							110.0	102.0	105.0					1																	167792259		2203	4300	6503	SO:0001819	synonymous_variant	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167792259G>T	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.4155C>A	1.37:g.167792259G>T						ADCY10_uc009wvj.2_RNA|ADCY10_uc009wvk.2_Silent_p.I1293I|ADCY10_uc010plj.1_Silent_p.I1232I	p.I1385I	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN			29	4453	-			1385					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Silent	SNP	ENST00000367851.4	37	c.4155C>A	CCDS1265.1																																																																																				0.502	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1		NM_018417		16	39	1	0	1.33834e-09	0.189662	1.38916e-09	16	39		
GPR161	23432	broad.mit.edu	37	1	168066120	168066120	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:168066120G>C	ENST00000367838.1	-	5	1038	c.725C>G	c.(724-726)tCc>tGc	p.S242C	GPR161_ENST00000537209.1_Missense_Mutation_p.S262C|GPR161_ENST00000367836.1_Missense_Mutation_p.S110C|GPR161_ENST00000271357.5_Missense_Mutation_p.S242C|GPR161_ENST00000367835.1_Missense_Mutation_p.S242C|GPR161_ENST00000361697.2_Missense_Mutation_p.S242C|GPR161_ENST00000539777.1_Missense_Mutation_p.S164C|GPR161_ENST00000546300.1_Missense_Mutation_p.S128C	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	242					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					GGAGGTGCTGGAGTTCTTCCT	0.602																																						uc001gfc.2		NaN																	0					0						c.(724-726)TCC>TGC		G protein-coupled receptor 161 isoform 2							104.0	108.0	107.0					1																	168066120		2203	4300	6503	SO:0001583	missense	23432				multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:168066120G>C	AF091890	CCDS1268.1, CCDS58042.1, CCDS58043.1, CCDS58044.1, CCDS58045.1, CCDS72978.1	1q23.3	2012-08-21			ENSG00000143147	ENSG00000143147		"""GPCR / Class A : Orphans"""	23694	protein-coding gene	gene with protein product		612250				11959142	Standard	NM_153832		Approved	RE2	uc009wvo.4	Q8N6U8	OTTHUMG00000034651	ENST00000367838.1:c.725C>G	1.37:g.168066120G>C	ENSP00000356812:p.Ser242Cys					GPR161_uc001gfb.2_Missense_Mutation_p.S110C|GPR161_uc010pll.1_Missense_Mutation_p.S152C|GPR161_uc010plm.1_Missense_Mutation_p.S128C|GPR161_uc009wvo.2_Missense_Mutation_p.S259C|GPR161_uc001gfd.2_Missense_Mutation_p.S242C|GPR161_uc010pln.1_Missense_Mutation_p.S262C|GPR161_uc001gfe.1_Missense_Mutation_p.S242C	p.S242C	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN			5	1039	-	all_hematologic(923;0.215)		242			Cytoplasmic (Potential).		B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Missense_Mutation	SNP	ENST00000367838.1	37	c.725C>G	CCDS1268.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.178411	0.78564	.	.	ENSG00000143147	ENST00000367838;ENST00000271357;ENST00000367836;ENST00000367835;ENST00000546300;ENST00000539777;ENST00000537209;ENST00000361697	T;T;D;T;T;T;T;T	0.83506	-0.26;-0.26;-1.73;-0.26;-1.26;-1.21;-0.18;-0.26	5.21	5.21	0.72293	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.90882	0.7135	M	0.82823	2.61	0.49389	D	0.999781	D;D;D;P;D;D	0.89917	1.0;1.0;1.0;0.93;0.999;1.0	D;D;D;D;D;D	0.87578	0.996;0.995;0.998;0.912;0.949;0.996	D	0.91120	0.4929	9	0.56958	D	0.05	-34.5007	18.7155	0.91673	0.0:0.0:1.0:0.0	.	262;128;164;262;242;242	F5GXD6;B7Z5E8;F5H6J7;B7Z5Z6;Q8N6U8-2;Q8N6U8	.;.;.;.;.;GP161_HUMAN	C	242;242;110;242;128;164;262;242	ENSP00000356812:S242C;ENSP00000271357:S242C;ENSP00000356810:S110C;ENSP00000356809:S242C;ENSP00000444348:S128C;ENSP00000437576:S164C;ENSP00000441039:S262C;ENSP00000355194:S242C	ENSP00000271357:S242C	S	-	2	0	GPR161	166332744	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.651000	0.83577	2.584000	0.87258	0.561000	0.74099	TCC		0.602	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083829.1		NM_007369		89	106	0	0	0	0.139131	0	89	106		
RFWD2	64326	broad.mit.edu	37	1	176050418	176050418	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:176050418T>C	ENST00000367669.3	-	11	1661	c.1147A>G	c.(1147-1149)Agt>Ggt	p.S383G	RFWD2_ENST00000308769.8_Missense_Mutation_p.S359G	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	383					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GCAGTTCGACTGTCATCTATA	0.328																																					Ovarian(134;1413 1765 5706 35534 51541)	uc001gku.1		NaN																	0					0						c.(1147-1149)AGT>GGT		ring finger and WD repeat domain 2 isoform a							78.0	78.0	78.0					1																	176050418		2203	4300	6503	SO:0001583	missense	64326				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:176050418T>C	AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	17440	protein-coding gene	gene with protein product		608067	"""ring finger and WD repeat domain 2"""			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.1147A>G	1.37:g.176050418T>C	ENSP00000356641:p.Ser383Gly					RFWD2_uc001gkv.1_Missense_Mutation_p.S359G|RFWD2_uc001gkw.1_Missense_Mutation_p.S143G|RFWD2_uc009wwv.2_Missense_Mutation_p.S182G|RFWD2_uc001gkt.1_Missense_Mutation_p.S222G	p.S383G	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN			11	1403	-			383					E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Missense_Mutation	SNP	ENST00000367669.3	37	c.1147A>G	CCDS30944.1	.	.	.	.	.	.	.	.	.	.	T	11.14	1.550974	0.27739	.	.	ENSG00000143207	ENST00000367665;ENST00000367669;ENST00000367666;ENST00000308769	T;T;T	0.12774	2.65;2.65;2.65	4.76	3.64	0.41730	.	0.160959	0.64402	D	0.000019	T	0.07728	0.0194	N	0.16478	0.41	0.49130	D	0.999752	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0	B;B;B;B;B	0.08055	0.001;0.001;0.003;0.001;0.001	T	0.28004	-1.0057	9	.	.	.	-2.3027	9.2078	0.37300	0.0:0.0882:0.0:0.9118	.	158;143;359;383;383	Q8NHY2-3;B1AMD2;Q8NHY2-2;Q8NHY2;Q504W6	.;.;.;RFWD2_HUMAN;.	G	158;383;218;359	ENSP00000356641:S383G;ENSP00000356638:S218G;ENSP00000310943:S359G	.	S	-	1	0	RFWD2	174317041	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	3.278000	0.51662	0.685000	0.31468	0.528000	0.53228	AGT		0.328	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2		NM_022457		9	24	0	0	0	0.069234	0	9	24		
KIAA1614	57710	broad.mit.edu	37	1	180904553	180904553	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:180904553G>A	ENST00000367588.4	+	5	1563	c.1508G>A	c.(1507-1509)cGg>cAg	p.R503Q	KIAA1614_ENST00000367587.1_Missense_Mutation_p.R124Q	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	503										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GGGGCTCCCCGGCTCCGGGAC	0.741																																						uc001gok.2		NaN																	0				ovary(3)|skin(1)	4						c.(1507-1509)CGG>CAG		hypothetical protein LOC57710							4.0	6.0	6.0					1																	180904553		1737	3844	5581	SO:0001583	missense	57710							g.chr1:180904553G>A	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.1508G>A	1.37:g.180904553G>A	ENSP00000356560:p.Arg503Gln					KIAA1614_uc001gol.1_Missense_Mutation_p.R124Q|KIAA1614_uc001gom.1_Intron	p.R503Q	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN			5	1575	+			503					Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	37	c.1508G>A	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	g	10.66	1.412316	0.25465	.	.	ENSG00000135835	ENST00000367588;ENST00000367587	T;T	0.21932	2.52;1.98	3.66	-0.944	0.10392	.	1.042050	0.07657	N	0.932949	T	0.09642	0.0237	N	0.16478	0.41	0.21740	N	0.999565	B	0.23650	0.089	B	0.11329	0.006	T	0.35500	-0.9786	9	0.21540	T	0.41	.	1.9759	0.03415	0.1861:0.1523:0.5052:0.1564	.	503	Q5VZ46	K1614_HUMAN	Q	503;124	ENSP00000356560:R503Q;ENSP00000356559:R124Q	ENSP00000356559:R124Q	R	+	2	0	KIAA1614	179171176	0.000000	0.05858	0.007000	0.13788	0.363000	0.29612	-0.579000	0.05834	-0.231000	0.09825	0.457000	0.33378	CGG		0.741	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1		XM_046531		4	23	0	0	0	0.021553	0	4	23		
LAMC2	3918	broad.mit.edu	37	1	183208644	183208644	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:183208644G>C	ENST00000264144.4	+	20	3080	c.3015G>C	c.(3013-3015)caG>caC	p.Q1005H	LAMC2_ENST00000493293.1_Missense_Mutation_p.Q1005H|LAMC2_ENST00000461729.1_3'UTR	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	1005	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CTGATGCACAGAGGGCAAAGA	0.537																																						uc001gqa.2		NaN																	0				skin(2)|ovary(1)	3						c.(3013-3015)CAG>CAC		laminin, gamma 2 isoform a precursor							73.0	86.0	82.0					1																	183208644		2203	4300	6503	SO:0001583	missense	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183208644G>C	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.3015G>C	1.37:g.183208644G>C	ENSP00000264144:p.Gln1005His					LAMC2_uc001gpz.3_Missense_Mutation_p.Q1005H|LAMC2_uc010poa.1_Missense_Mutation_p.Q705H	p.Q1005H	NM_005562	NP_005553	Q13753	LAMC2_HUMAN			20	3329	+			1005			Potential.|Domain II and I.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	37	c.3015G>C	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	G	7.243	0.601681	0.13939	.	.	ENSG00000058085	ENST00000493293;ENST00000264144	T;T	0.79454	2.4;-1.27	5.36	2.28	0.28536	.	0.618832	0.16294	N	0.220773	T	0.76821	0.4041	L	0.57536	1.79	0.09310	N	1	P;P;P	0.48503	0.855;0.855;0.911	P;B;P	0.51135	0.459;0.359;0.66	T	0.65212	-0.6223	10	0.45353	T	0.12	.	5.9024	0.18974	0.2354:0.1403:0.6243:0.0	.	1005;1005;1005	Q2M1N2;Q13753;Q13753-2	.;LAMC2_HUMAN;.	H	1005	ENSP00000432063:Q1005H;ENSP00000264144:Q1005H	ENSP00000264144:Q1005H	Q	+	3	2	LAMC2	181475267	0.284000	0.24287	0.055000	0.19348	0.108000	0.19459	0.508000	0.22692	0.625000	0.30304	0.491000	0.48974	CAG		0.537	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1		NM_005562		31	78	0	0	0	0.183431	0	31	78		
LAMC2	3918	broad.mit.edu	37	1	183209259	183209259	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:183209259G>C	ENST00000264144.4	+	21	3219	c.3154G>C	c.(3154-3156)Gag>Cag	p.E1052Q	LAMC2_ENST00000493293.1_Missense_Mutation_p.E1052Q|LAMC2_ENST00000461729.1_3'UTR	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	1052	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						TCTGAAGAGTGAGATGAGGGA	0.507																																						uc001gqa.2		NaN																	0				skin(2)|ovary(1)	3						c.(3154-3156)GAG>CAG		laminin, gamma 2 isoform a precursor							146.0	142.0	143.0					1																	183209259		2203	4300	6503	SO:0001583	missense	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183209259G>C	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.3154G>C	1.37:g.183209259G>C	ENSP00000264144:p.Glu1052Gln					LAMC2_uc001gpz.3_Missense_Mutation_p.E1052Q|LAMC2_uc010poa.1_Missense_Mutation_p.E752Q	p.E1052Q	NM_005562	NP_005553	Q13753	LAMC2_HUMAN			21	3468	+			1052			Potential.|Domain II and I.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	37	c.3154G>C	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.739620	0.30774	.	.	ENSG00000058085	ENST00000493293;ENST00000264144	T;T	0.78003	2.46;-1.14	5.69	5.69	0.88448	.	0.556382	0.18391	N	0.142647	T	0.73079	0.3541	L	0.45581	1.43	0.48975	D	0.999734	P;P;P	0.39216	0.534;0.664;0.664	B;B;B	0.41860	0.143;0.368;0.277	T	0.69041	-0.5250	10	0.02654	T	1	.	18.0039	0.89204	0.0:0.0:1.0:0.0	.	1052;1052;1052	Q2M1N2;Q13753;Q13753-2	.;LAMC2_HUMAN;.	Q	1052	ENSP00000432063:E1052Q;ENSP00000264144:E1052Q	ENSP00000264144:E1052Q	E	+	1	0	LAMC2	181475882	1.000000	0.71417	0.997000	0.53966	0.953000	0.61014	4.225000	0.58600	2.674000	0.91012	0.650000	0.86243	GAG		0.507	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1		NM_005562		19	74	0	0	0	0.055883	0	19	74		
FAM58BP	339521	broad.mit.edu	37	1	200183191	200183191	+	IGR	SNP	G	G	A	rs373944087		TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:200183191G>A								NR5A2 (36639 upstream) : RP11-532L16.3 (101371 downstream)																							AGCTGGCAGCGGACCCCCGTT	0.627																																						uc009wzi.1		NaN																	0					0						c.(499-501)CGG>CAG		family with sequence similarity 58 member B		G	GLN/ARG	0,4406		0,0,2203	40.0	42.0	41.0		500	-0.2	0.0	1		41	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM58BP	NM_001105517.1	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	167/253	200183191	1,13005	2203	4300	6503	SO:0001628	intergenic_variant	339521				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding	g.chr1:200183191G>A																													1.37:g.200183191G>A							p.R167Q	NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN			1	536	+	Prostate(682;0.19)		167						Missense_Mutation	SNP		37	c.500G>A																																																																																				0	0.627										23	59	0	0	0	0.173368	0	23	59		
NAV1	89796	broad.mit.edu	37	1	201749566	201749566	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:201749566C>A	ENST00000367296.4	+	4	1664	c.1244C>A	c.(1243-1245)tCc>tAc	p.S415Y	IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367300.3_Missense_Mutation_p.S415Y|NAV1_ENST00000367302.1_Missense_Mutation_p.S428Y|NAV1_ENST00000295624.6_Missense_Mutation_p.S415Y|NAV1_ENST00000367297.4_Missense_Mutation_p.S415Y|NAV1_ENST00000367295.1_Missense_Mutation_p.S24Y	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	415					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GAAAGCAGCTCCATCAGTAGT	0.463																																						uc001gwu.2		NaN																	0				central_nervous_system(3)|ovary(1)	4						c.(1243-1245)TCC>TAC		neuron navigator 1							120.0	109.0	112.0					1																	201749566		2203	4300	6503	SO:0001583	missense	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201749566C>A	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.1244C>A	1.37:g.201749566C>A	ENSP00000356265:p.Ser415Tyr					NAV1_uc001gwv.1_5'UTR|NAV1_uc001gww.1_Missense_Mutation_p.S24Y|NAV1_uc001gwx.2_Missense_Mutation_p.S24Y|NAV1_uc001gwy.1_5'Flank	p.S415Y	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN			4	1591	+			415					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	37	c.1244C>A	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	C	22.1	4.249903	0.80024	.	.	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000367295	T;T;T;T;T;T	0.25250	1.81;2.2;2.2;2.18;1.82;1.87	5.42	4.46	0.54185	.	0.183909	0.48767	D	0.000163	T	0.52533	0.1740	M	0.76170	2.325	0.39213	D	0.963366	D;D;D	0.89917	0.999;0.996;1.0	D;D;D	0.87578	0.997;0.93;0.998	T	0.60816	-0.7188	10	0.87932	D	0	-29.5802	17.4612	0.87620	0.0:0.8651:0.1349:0.0	.	24;415;415	Q8NEY1-5;Q8NEY1;Q8NEY1-3	.;NAV1_HUMAN;.	Y	428;415;415;415;415;24	ENSP00000356271:S428Y;ENSP00000356265:S415Y;ENSP00000295624:S415Y;ENSP00000356266:S415Y;ENSP00000356269:S415Y;ENSP00000356264:S24Y	ENSP00000295624:S415Y	S	+	2	0	NAV1	200016189	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.074000	0.71253	2.531000	0.85337	0.655000	0.94253	TCC		0.463	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1		NM_020443		25	72	1	0	4.59853e-10	0.108266	4.78831e-10	25	72		
NAV1	89796	broad.mit.edu	37	1	201749603	201749603	+	Silent	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:201749603C>G	ENST00000367296.4	+	4	1701	c.1281C>G	c.(1279-1281)ctC>ctG	p.L427L	IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367300.3_Silent_p.L427L|NAV1_ENST00000367302.1_Silent_p.L440L|NAV1_ENST00000295624.6_Silent_p.L427L|NAV1_ENST00000367297.4_Silent_p.L427L|NAV1_ENST00000367295.1_Silent_p.L36L	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	427					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CAGACAATCTCAGTTCAGAAG	0.488																																						uc001gwu.2		NaN																	0				central_nervous_system(3)|ovary(1)	4						c.(1279-1281)CTC>CTG		neuron navigator 1							135.0	123.0	127.0					1																	201749603		2203	4300	6503	SO:0001819	synonymous_variant	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201749603C>G	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.1281C>G	1.37:g.201749603C>G						NAV1_uc001gwv.1_5'UTR|NAV1_uc001gww.1_Silent_p.L36L|NAV1_uc001gwx.2_Silent_p.L36L|NAV1_uc001gwy.1_5'Flank	p.L427L	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN			4	1628	+			427					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Silent	SNP	ENST00000367296.4	37	c.1281C>G	CCDS1414.2																																																																																				0.488	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1		NM_020443		32	82	0	0	0	0.092188	0	32	82		
NAV1	89796	broad.mit.edu	37	1	201749677	201749677	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:201749677C>T	ENST00000367296.4	+	4	1775	c.1355C>T	c.(1354-1356)tCa>tTa	p.S452L	IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367300.3_Missense_Mutation_p.S452L|NAV1_ENST00000367302.1_Missense_Mutation_p.S465L|NAV1_ENST00000295624.6_Missense_Mutation_p.S452L|NAV1_ENST00000367297.4_Missense_Mutation_p.S452L|NAV1_ENST00000367295.1_Missense_Mutation_p.S61L	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	452					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CGCAGGAACTCAACAATAGTG	0.498																																						uc001gwu.2		NaN																	0				central_nervous_system(3)|ovary(1)	4						c.(1354-1356)TCA>TTA		neuron navigator 1							107.0	97.0	101.0					1																	201749677		2203	4300	6503	SO:0001583	missense	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201749677C>T	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.1355C>T	1.37:g.201749677C>T	ENSP00000356265:p.Ser452Leu					NAV1_uc001gwv.1_5'UTR|NAV1_uc001gww.1_Missense_Mutation_p.S61L|NAV1_uc001gwx.2_Missense_Mutation_p.S61L|NAV1_uc001gwy.1_5'Flank	p.S452L	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN			4	1702	+			452					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	37	c.1355C>T	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826246	0.71143	.	.	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000367295	T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26	5.58	5.58	0.84498	.	0.057717	0.64402	D	0.000001	T	0.29223	0.0727	N	0.20685	0.6	0.58432	D	0.99999	B;B;B	0.27997	0.197;0.02;0.021	B;B;B	0.25759	0.062;0.063;0.013	T	0.10291	-1.0636	10	0.87932	D	0	-17.5082	19.1766	0.93604	0.0:1.0:0.0:0.0	.	61;452;452	Q8NEY1-5;Q8NEY1;Q8NEY1-3	.;NAV1_HUMAN;.	L	465;452;452;452;452;61	ENSP00000356271:S465L;ENSP00000356265:S452L;ENSP00000295624:S452L;ENSP00000356266:S452L;ENSP00000356269:S452L;ENSP00000356264:S61L	ENSP00000295624:S452L	S	+	2	0	NAV1	200016300	1.000000	0.71417	0.955000	0.39395	0.973000	0.67179	5.669000	0.68081	2.608000	0.88229	0.655000	0.94253	TCA		0.498	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1		NM_020443		22	74	0	0	0	0.144211	0	22	74		
SLC30A1	7779	broad.mit.edu	37	1	211751465	211751465	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:211751465G>A	ENST00000367001.4	-	1	619	c.490C>T	c.(490-492)Cgc>Tgc	p.R164C		NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter), member 1	164					cadmium ion transmembrane transport (GO:0070574)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|cellular zinc ion homeostasis (GO:0006882)|detoxification of cadmium ion (GO:0071585)|in utero embryonic development (GO:0001701)|negative regulation of calcium ion import (GO:0090281)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of zinc ion transmembrane import (GO:0071584)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	calcium channel inhibitor activity (GO:0019855)|zinc ion transmembrane transporter activity (GO:0005385)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		CTCTTAACGCGAGGCCCCTTG	0.701																																						uc001hio.1		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(490-492)CGC>TGC		solute carrier family 30 (zinc transporter),							16.0	19.0	18.0					1																	211751465		2195	4296	6491	SO:0001583	missense	7779				cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import	integral to membrane|T-tubule	calcium channel inhibitor activity|zinc ion transmembrane transporter activity	g.chr1:211751465G>A	AF323590	CCDS1499.1	1q32.3	2013-05-22			ENSG00000170385	ENSG00000170385		"""Solute carriers"""	11012	protein-coding gene	gene with protein product		609521		ZNT1			Standard	NM_021194		Approved	ZRC1	uc001hio.1	Q9Y6M5	OTTHUMG00000036995	ENST00000367001.4:c.490C>T	1.37:g.211751465G>A	ENSP00000355968:p.Arg164Cys						p.R164C	NM_021194	NP_067017	Q9Y6M5	ZNT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)	1	635	-			164			Cytoplasmic (Potential).		Q0VAK9|Q9BZF6	Missense_Mutation	SNP	ENST00000367001.4	37	c.490C>T	CCDS1499.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661260	0.67700	.	.	ENSG00000170385	ENST00000367001	T	0.65364	-0.15	4.13	3.22	0.36961	.	4.163700	0.00481	N	0.000139	T	0.71307	0.3324	L	0.43923	1.385	0.09310	N	0.999997	D	0.76494	0.999	P	0.62649	0.905	T	0.50259	-0.8849	10	0.46703	T	0.11	-0.9379	6.6058	0.22724	0.0932:0.0:0.7291:0.1777	.	164	Q9Y6M5	ZNT1_HUMAN	C	164	ENSP00000355968:R164C	ENSP00000355968:R164C	R	-	1	0	SLC30A1	209818088	0.386000	0.25180	0.011000	0.14972	0.022000	0.10575	4.545000	0.60698	0.959000	0.37980	0.455000	0.32223	CGC		0.701	SLC30A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104738.2				4	16	0	0	0	0.184627	0	4	16		
KCNK2	3776	broad.mit.edu	37	1	215259881	215259881	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:215259881C>G	ENST00000444842.2	+	2	367	c.217C>G	c.(217-219)Ctg>Gtg	p.L73V	KCNK2_ENST00000391894.2_Missense_Mutation_p.L58V|KCNK2_ENST00000391895.2_Missense_Mutation_p.L69V	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	73					G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	TGTCCTCTATCTGATCATCGG	0.483																																						uc001hkq.2		NaN																	0					0						c.(217-219)CTG>GTG		potassium channel, subfamily K, member 2 isoform	Dofetilide(DB00204)						105.0	90.0	95.0					1																	215259881		2203	4300	6503	SO:0001583	missense	3776						outward rectifier potassium channel activity	g.chr1:215259881C>G	AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.217C>G	1.37:g.215259881C>G	ENSP00000394033:p.Leu73Val					KCNK2_uc001hko.2_Missense_Mutation_p.L69V|KCNK2_uc009xdm.2_RNA|KCNK2_uc001hkp.2_RNA|KCNK2_uc010pua.1_RNA|KCNK2_uc001hkr.3_Missense_Mutation_p.L58V	p.L73V	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	2	386	+			73			Helical; (Potential).		A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Missense_Mutation	SNP	ENST00000444842.2	37	c.217C>G	CCDS41467.1	.	.	.	.	.	.	.	.	.	.	C	19.99	3.928961	0.73327	.	.	ENSG00000082482	ENST00000366948;ENST00000391895;ENST00000478774;ENST00000391894;ENST00000444842;ENST00000457122	T;D;T;T;T	0.97598	1.79;-4.45;1.79;1.79;1.79	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.98188	0.9401	M	0.76838	2.35	0.80722	D	1	D;D;D	0.89917	0.985;0.995;1.0	D;D;D	0.91635	0.943;0.925;0.999	D	0.98532	1.0628	10	0.87932	D	0	.	13.65	0.62306	0.0:0.9203:0.0:0.0797	.	58;73;69	O95069-2;O95069;O95069-3	.;KCNK2_HUMAN;.	V	69;69;17;58;73;17	ENSP00000375765:L69V;ENSP00000420569:L17V;ENSP00000375764:L58V;ENSP00000394033:L73V;ENSP00000413460:L17V	ENSP00000355915:L69V	L	+	1	2	KCNK2	213326504	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.600000	0.54052	2.729000	0.93468	0.557000	0.71058	CTG		0.483	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089856.2		NM_014217		17	29	0	0	0	0.189662	0	17	29		
LBR	3930	broad.mit.edu	37	1	225598067	225598067	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:225598067C>T	ENST00000338179.2	-	10	1365	c.1240G>A	c.(1240-1242)Gct>Act	p.A414T	AC092811.1_ENST00000366845.2_5'Flank|LBR_ENST00000272163.4_Missense_Mutation_p.A414T	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	414					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|lamin binding (GO:0005521)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|poly(A) RNA binding (GO:0044822)	p.A414T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		GATGGAACAGCGCGGTCCTGT	0.433																																						uc001hoy.2		NaN																	1	Substitution - Missense(1)		endometrium(1)	ovary(1)|skin(1)	2						c.(1240-1242)GCT>ACT		lamin B receptor							126.0	123.0	124.0					1																	225598067		2203	4300	6503	SO:0001583	missense	3930				cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity	g.chr1:225598067C>T	L25931	CCDS1545.1	1q42.1	2013-01-23			ENSG00000143815	ENSG00000143815		"""Tudor domain containing"""	6518	protein-coding gene	gene with protein product	"""tudor domain containing 18"""	600024				8157663, 9878250	Standard	NM_194442		Approved	DHCR14B, TDRD18	uc001hoy.3	Q14739	OTTHUMG00000037520	ENST00000338179.2:c.1240G>A	1.37:g.225598067C>T	ENSP00000339883:p.Ala414Thr					LBR_uc001hoz.2_Missense_Mutation_p.A414T|LBR_uc001hpa.1_Missense_Mutation_p.A414T	p.A414T	NM_002296	NP_002287	Q14739	LBR_HUMAN		GBM - Glioblastoma multiforme(131;0.117)	10	1383	-	Breast(184;0.165)		414					B2R5P3|Q14740|Q53GU7|Q59FE6	Missense_Mutation	SNP	ENST00000338179.2	37	c.1240G>A	CCDS1545.1	.	.	.	.	.	.	.	.	.	.	C	6.293	0.422232	0.11928	.	.	ENSG00000143815	ENST00000272163;ENST00000338179;ENST00000424022	D;D;D	0.97941	-4.62;-4.62;-4.62	5.87	-0.842	0.10748	.	0.667620	0.15810	N	0.243520	D	0.93220	0.7840	L	0.38838	1.175	0.09310	N	1	B	0.24258	0.1	B	0.23419	0.046	D	0.84538	0.0637	10	0.18710	T	0.47	-0.2495	7.5302	0.27679	0.0:0.4968:0.1029:0.4003	.	414	Q14739	LBR_HUMAN	T	414;414;45	ENSP00000272163:A414T;ENSP00000339883:A414T;ENSP00000397817:A45T	ENSP00000272163:A414T	A	-	1	0	LBR	223664690	0.005000	0.15991	0.000000	0.03702	0.002000	0.02628	2.093000	0.41710	-0.314000	0.08716	-0.345000	0.07892	GCT		0.433	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091398.1		NM_002296		16	69	0	0	0	0.069288	0	16	69		
LYST	1130	broad.mit.edu	37	1	235973651	235973651	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:235973651C>G	ENST00000389794.3	-	5	641	c.467G>C	c.(466-468)aGa>aCa	p.R156T	LYST_ENST00000536965.1_Missense_Mutation_p.R156T|LYST_ENST00000389793.2_Missense_Mutation_p.R156T			Q99698	LYST_HUMAN	lysosomal trafficking regulator	156					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TCTTGCATCTCTTACAGAATA	0.418																																						uc001hxj.2		NaN																	0				ovary(6)|breast(4)|central_nervous_system(2)	12						c.(466-468)AGA>ACA		lysosomal trafficking regulator							146.0	142.0	144.0					1																	235973651		2203	4300	6503	SO:0001583	missense	1130	Chediak-Higashi_syndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235973651C>G	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.467G>C	1.37:g.235973651C>G	ENSP00000374444:p.Arg156Thr					LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.R156T	p.R156T	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		5	642	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	156					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.467G>C	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.828727	0.50845	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.13657	2.57;2.57;2.57	5.62	4.71	0.59529	.	0.451731	0.24967	N	0.034171	T	0.28962	0.0719	L	0.54323	1.7	0.36085	D	0.843057	D;D	0.71674	0.998;0.973	D;P	0.68621	0.959;0.711	T	0.23511	-1.0186	10	0.46703	T	0.11	.	10.6458	0.45619	0.0:0.8547:0.0:0.1453	.	156;156	Q99698-3;Q99698	.;LYST_HUMAN	T	156	ENSP00000374444:R156T;ENSP00000374443:R156T;ENSP00000438315:R156T	ENSP00000374443:R156T	R	-	2	0	LYST	234040274	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	3.669000	0.54561	1.392000	0.46585	-0.251000	0.11542	AGA		0.418	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5				30	42	0	0	0	0.193644	0	30	42		
FMN2	56776	broad.mit.edu	37	1	240255687	240255687	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:240255687C>T	ENST00000319653.9	+	1	508	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	93					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCCGGCGGCTCCCGCGAAGAT	0.622																																						uc010pyd.1		NaN																	0				ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(277-279)TCC>TTC		formin 2							16.0	20.0	19.0					1																	240255687		2201	4300	6501	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240255687C>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.278C>T	1.37:g.240255687C>T	ENSP00000318884:p.Ser93Phe					FMN2_uc010pye.1_Missense_Mutation_p.S93F	p.S93F	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		1	503	+	Ovarian(103;0.127)	all_cancers(173;0.013)	93					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.278C>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	C	14.74	2.624951	0.46840	.	.	ENSG00000155816	ENST00000319653	T	0.52983	0.64	4.2	4.2	0.49525	.	0.000000	0.56097	D	0.000028	T	0.65471	0.2694	M	0.61703	1.905	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	T	0.71174	-0.4670	10	0.87932	D	0	.	16.8962	0.86101	0.0:1.0:0.0:0.0	.	93	Q9NZ56	FMN2_HUMAN	F	93	ENSP00000318884:S93F	ENSP00000318884:S93F	S	+	2	0	FMN2	238322310	1.000000	0.71417	0.997000	0.53966	0.894000	0.52154	6.996000	0.76263	2.037000	0.60232	0.313000	0.20887	TCC		0.622	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2		XM_371352		9	27	0	0	0	0.069234	0	9	27		
FMN2	56776	broad.mit.edu	37	1	240255999	240255999	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:240255999C>G	ENST00000319653.9	+	1	820	c.590C>G	c.(589-591)tCa>tGa	p.S197*		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	197					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GATTTGCTTTCAGACATCCAG	0.617																																						uc010pyd.1		NaN																	0				ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(589-591)TCA>TGA		formin 2							63.0	60.0	61.0					1																	240255999		2203	4300	6503	SO:0001587	stop_gained	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240255999C>G	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.590C>G	1.37:g.240255999C>G	ENSP00000318884:p.Ser197*					FMN2_uc010pye.1_Nonsense_Mutation_p.S197*	p.S197*	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		1	815	+	Ovarian(103;0.127)	all_cancers(173;0.013)	197			Potential.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Nonsense_Mutation	SNP	ENST00000319653.9	37	c.590C>G	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	C	38	7.247273	0.98161	.	.	ENSG00000155816	ENST00000319653	.	.	.	3.53	2.61	0.31194	.	0.119003	0.37136	N	0.002230	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.3638	0.49660	0.0:0.9085:0.0:0.0915	.	.	.	.	X	197	.	ENSP00000318884:S197X	S	+	2	0	FMN2	238322622	1.000000	0.71417	0.994000	0.49952	0.640000	0.38277	5.163000	0.64948	0.841000	0.35020	-0.667000	0.03836	TCA		0.617	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2		XM_371352		7	38	0	0	0	0.038147	0	7	38		
TUBB8	347688	broad.mit.edu	37	10	93872	93872	+	Missense_Mutation	SNP	T	T	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr10:93872T>G	ENST00000309812.4	-	4	522	c.460A>C	c.(460-462)Aag>Cag	p.K154Q	TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000447903.2_Missense_Mutation_p.K82Q	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	154					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		TCCCGGATCTTACTGAGCAGA	0.602																																					Pancreas(192;2041 3010 9013 18103)	uc001ifi.2		NaN																	0				ovary(1)	1						c.(460-462)AAG>CAG		tubulin, beta 8 isoform 1							104.0	93.0	96.0					10																	93872		2203	4300	6503	SO:0001583	missense	347688				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:93872T>G	AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"""Tubulins"""	20773	protein-coding gene	gene with protein product	"""class VIII beta-tubulin"""						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.460A>C	10.37:g.93872T>G	ENSP00000311042:p.Lys154Gln					TUBB8_uc009xhe.2_Missense_Mutation_p.K117Q|TUBB8_uc010pzs.1_Missense_Mutation_p.K82Q	p.K154Q	NM_177987	NP_817124	Q3ZCM7	TBB8_HUMAN		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)	4	460	-		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)	154					Q5SQX9|Q8WZ78	Missense_Mutation	SNP	ENST00000309812.4	37	c.460A>C	CCDS7051.1	.	.	.	.	.	.	.	.	.	.	T	15.20	2.762437	0.49574	.	.	ENSG00000173876	ENST00000447903;ENST00000272035;ENST00000440680;ENST00000328974	T	0.70399	-0.48	.	.	.	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.64402	U	0.000005	T	0.80722	0.4677	M	0.86178	2.8	0.31332	N	0.684707	D;D	0.65815	0.991;0.995	D;D	0.76575	0.987;0.988	T	0.76984	-0.2756	9	0.87932	D	0	.	4.5487	0.12098	0.0:6.0E-4:0.0:0.9994	.	117;154	C9JAA5;Q3ZCM7	.;TBB8_HUMAN	Q	82;120;117;154	ENSP00000403895:K82Q	ENSP00000272035:K120Q	K	-	1	0	RP11-631M21.2	83872	1.000000	0.71417	0.688000	0.30117	0.692000	0.40212	5.418000	0.66429	0.103000	0.17682	0.102000	0.15555	AAG		0.602	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1		NM_177987		15	250	0	0	0	0.175082	0	15	250		
PFKFB3	5209	broad.mit.edu	37	10	6261552	6261552	+	Silent	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr10:6261552G>A	ENST00000379775.4	+	7	849	c.519G>A	c.(517-519)ccG>ccA	p.P173P	PFKFB3_ENST00000536985.1_Missense_Mutation_p.R170Q|PFKFB3_ENST00000360521.2_Silent_p.P173P|PFKFB3_ENST00000379782.3_Silent_p.P173P|PFKFB3_ENST00000540253.1_Silent_p.P187P|PFKFB3_ENST00000379789.4_Silent_p.P153P|PFKFB3_ENST00000379785.1_Silent_p.P173P|PFKFB3_ENST00000317350.4_Silent_p.P173P	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	173	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)	p.P173P(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						TCTCCAGCCCGGATTACAAAG	0.507																																						uc001ije.2		NaN																	1	Substitution - coding silent(1)	p.P173P(1)	ovary(1)	ovary(2)|central_nervous_system(1)	3						c.(517-519)CCG>CCA		6-phosphofructo-2-kinase/fructose-2,							81.0	81.0	81.0					10																	6261552		2203	4300	6503	SO:0001819	synonymous_variant	5209				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chr10:6261552G>A		CCDS7078.1, CCDS44353.1, CCDS60479.1	10p15.1	2008-05-14			ENSG00000170525	ENSG00000170525			8874	protein-coding gene	gene with protein product		605319				9146922, 10072580	Standard	NM_004566		Approved		uc001ije.3	Q16875	OTTHUMG00000017621	ENST00000379775.4:c.519G>A	10.37:g.6261552G>A						PFKFB3_uc001ijd.2_Silent_p.P153P|PFKFB3_uc009xii.2_RNA|PFKFB3_uc010qaw.1_Silent_p.P187P|PFKFB3_uc001ijf.2_Silent_p.P173P	p.P173P	NM_004566	NP_004557	Q16875	F263_HUMAN			7	903	+			173			6-phosphofructo-2-kinase.		B7Z955|O43622|O75902|Q5VX15|Q5VX18|Q5VX19	Silent	SNP	ENST00000379775.4	37	c.519G>A	CCDS7078.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595999	0.46318	.	.	ENSG00000170525	ENST00000536985	.	.	.	5.37	-3.91	0.04168	.	.	.	.	.	T	0.45478	0.1344	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53486	-0.8432	5	0.54805	T	0.06	-13.7832	2.015	0.03496	0.4323:0.0909:0.1288:0.348	.	.	.	.	Q	170	.	ENSP00000443319:R170Q	R	+	2	0	PFKFB3	6301558	0.002000	0.14202	0.990000	0.47175	0.599000	0.36880	-1.171000	0.03115	-0.220000	0.09988	-0.216000	0.12614	CGG		0.507	PFKFB3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046647.1				5	110	0	0	0	0.184627	0	5	110		
CUBN	8029	broad.mit.edu	37	10	17153011	17153011	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr10:17153011C>T	ENST00000377833.4	-	9	987	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	308	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATCTCACATTCATTGATATCT	0.458																																						uc001ioo.2		NaN																	0				ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(922-924)GAA>AAA		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						103.0	99.0	100.0					10																	17153011		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17153011C>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.922G>A	10.37:g.17153011C>T	ENSP00000367064:p.Glu308Lys						p.E308K	NM_001081	NP_001072	O60494	CUBN_HUMAN			9	974	-			308			EGF-like 4; calcium-binding (Potential).		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.922G>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	35	5.432370	0.96150	.	.	ENSG00000107611	ENST00000377833	D	0.98849	-5.18	5.83	5.83	0.93111	Growth factor, receptor (1);Epidermal growth factor-like (1);EGF-like calcium-binding (1);	0.000000	0.47852	D	0.000206	D	0.99471	0.9812	H	0.95365	3.66	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98483	1.0606	10	0.87932	D	0	.	20.1184	0.97949	0.0:1.0:0.0:0.0	.	308	O60494	CUBN_HUMAN	K	308	ENSP00000367064:E308K	ENSP00000367064:E308K	E	-	1	0	CUBN	17193017	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	7.673000	0.83973	2.775000	0.95449	0.650000	0.86243	GAA		0.458	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1		NM_001081		14	70	0	0	0	0.146539	0	14	70		
NSUN6	221078	broad.mit.edu	37	10	18905124	18905124	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr10:18905124G>A	ENST00000377304.4	-	4	828	c.410C>T	c.(409-411)tCa>tTa	p.S137L		NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	137	PUA. {ECO:0000255|PROSITE- ProRule:PRU00161}.						methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						TTGTGATGCTGACACAATTCC	0.343																																						uc010qcp.1		NaN																	0				ovary(2)	2						c.(409-411)TCA>TTA		NOL1/NOP2/Sun domain family, member 6							105.0	98.0	100.0					10																	18905124		2203	4300	6503	SO:0001583	missense	221078						methyltransferase activity|RNA binding	g.chr10:18905124G>A	BC035778	CCDS7130.1	10p13	2014-06-23	2009-11-23	2004-08-26	ENSG00000241058	ENSG00000241058		"""NOP2/Sun domain containing"""	23529	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family 6"", ""NOL1/NOP2/Sun domain family, member 6"", ""ARL5B antisense RNA 1"""	NOPD1, ARL5B-AS1			Standard	XM_005252394		Approved	FLJ23743	uc010qcp.1	Q8TEA1	OTTHUMG00000017767	ENST00000377304.4:c.410C>T	10.37:g.18905124G>A	ENSP00000366519:p.Ser137Leu						p.S137L	NM_182543	NP_872349	Q8TEA1	NSUN6_HUMAN			4	828	-			137			PUA.		B0YJ54	Missense_Mutation	SNP	ENST00000377304.4	37	c.410C>T	CCDS7130.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.782754	0.49891	.	.	ENSG00000241058	ENST00000377304	D	0.95918	-3.85	5.24	5.24	0.73138	Pseudouridine synthase/archaeosine transglycosylase (1);PUA-like domain (1);	0.198730	0.44902	D	0.000412	D	0.95166	0.8433	M	0.75264	2.295	0.53005	D	0.999961	B	0.24092	0.097	B	0.26969	0.075	D	0.93279	0.6658	10	0.49607	T	0.09	.	18.8274	0.92124	0.0:0.0:1.0:0.0	.	137	Q8TEA1	NSUN6_HUMAN	L	137	ENSP00000366519:S137L	ENSP00000366519:S137L	S	-	2	0	NSUN6	18945130	0.998000	0.40836	1.000000	0.80357	0.709000	0.40893	5.931000	0.70113	2.471000	0.83476	0.655000	0.94253	TCA		0.343	NSUN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047083.1		NM_182543		39	10	0	0	0	0.139131	0	39	10		
NEBL	10529	broad.mit.edu	37	10	21102872	21102872	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr10:21102872G>C	ENST00000377122.4	-	23	2738	c.2342C>G	c.(2341-2343)tCa>tGa	p.S781*	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	781					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCCTACCATTGAAATATGATT	0.383																																						uc001iqi.2		NaN																	0				ovary(2)	2						c.(2341-2343)TCA>TGA		nebulette sarcomeric isoform							181.0	156.0	164.0					10																	21102872		2203	4300	6503	SO:0001587	stop_gained	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21102872G>C	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.2342C>G	10.37:g.21102872G>C	ENSP00000366326:p.Ser781*					NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron	p.S781*	NM_006393	NP_006384	O76041	NEBL_HUMAN			23	2739	-			781			Nebulin 22.		B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Nonsense_Mutation	SNP	ENST00000377122.4	37	c.2342C>G	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	G	44	10.567511	0.99429	.	.	ENSG00000078114	ENST00000377122	.	.	.	5.91	5.91	0.95273	.	0.073807	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.3052	0.98627	0.0:0.0:1.0:0.0	.	.	.	.	X	781	.	ENSP00000366326:S781X	S	-	2	0	NEBL	21142878	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.982000	0.88131	2.814000	0.96858	0.650000	0.86243	TCA		0.383	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1		NM_006393		9	29	0	0	0	0.105934	0	9	29		
RASGEF1A	221002	broad.mit.edu	37	10	43696157	43696157	+	Silent	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr10:43696157G>A	ENST00000395809.1	-	5	3145	c.639C>T	c.(637-639)tgC>tgT	p.C213C	RASGEF1A_ENST00000472864.1_5'UTR|RASGEF1A_ENST00000374459.1_Silent_p.C221C|RASGEF1A_ENST00000395810.1_Silent_p.C213C			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	213					cell migration (GO:0016477)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						CCAGGGGGTCGCAGCACACGC	0.642																																						uc001jap.1		NaN																	0					0						c.(637-639)TGC>TGT		RasGEF domain family, member 1A							54.0	48.0	50.0					10																	43696157		2203	4300	6503	SO:0001819	synonymous_variant	221002				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr10:43696157G>A	AK095136	CCDS7202.2, CCDS60517.1	10q11.21	2006-01-11			ENSG00000198915	ENSG00000198915			24246	protein-coding gene	gene with protein product		614531				12477932	Standard	XM_005271808		Approved	CG4853, FLJ37817	uc001jap.1	Q8N9B8	OTTHUMG00000018025	ENST00000395809.1:c.639C>T	10.37:g.43696157G>A						RASGEF1A_uc001jao.1_Silent_p.C221C	p.C213C	NM_145313	NP_660356	Q8N9B8	RGF1A_HUMAN			5	720	-			213					Q8TBF1	Silent	SNP	ENST00000395809.1	37	c.639C>T	CCDS7202.2	.	.	.	.	.	.	.	.	.	.	G	10.66	1.412519	0.25465	.	.	ENSG00000198915	ENST00000374455	.	.	.	5.04	-7.47	0.01365	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3384	0.60530	0.5012:0.0:0.4988:0.0	.	.	.	.	X	115	.	.	R	-	1	2	RASGEF1A	43016163	0.321000	0.24625	0.806000	0.32338	0.995000	0.86356	-0.224000	0.09164	-1.836000	0.01190	0.455000	0.32223	CGA		0.642	RASGEF1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313989.1		NM_145313		5	54	0	0	0	0.021553	0	5	54		
ZNF32	7580	broad.mit.edu	37	10	44140096	44140096	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr10:44140096C>G	ENST00000395797.1	-	3	412	c.224G>C	c.(223-225)aGg>aCg	p.R75T	ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS2_ENST00000418966.1_RNA|ZNF32-AS1_ENST00000453284.1_RNA|ZNF32_ENST00000374433.2_Missense_Mutation_p.R75T|ZNF32_ENST00000485351.1_Intron	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	75					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		CTCATAGACCCTTTGTCTCAC	0.448																																						uc001jbb.2		NaN																	0				ovary(1)	1						c.(223-225)AGG>ACG		zinc finger protein 32							143.0	140.0	141.0					10																	44140096		2203	4300	6503	SO:0001583	missense	7580				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr10:44140096C>G	U69645	CCDS7206.1	10q22-q25	2013-01-08	2006-05-11		ENSG00000169740	ENSG00000169740		"""Zinc fingers, C2H2-type"""	13095	protein-coding gene	gene with protein product		194539	"""zinc finger protein 32 (KOX 30)"""				Standard	XM_005271822		Approved	KOX30	uc001jbc.3	P17041	OTTHUMG00000018043	ENST00000395797.1:c.224G>C	10.37:g.44140096C>G	ENSP00000379143:p.Arg75Thr					uc001jba.2_Intron|ZNF32_uc001jbc.2_Missense_Mutation_p.R75T	p.R75T	NM_001005368	NP_001005368	P17041	ZNF32_HUMAN		Lung(62;0.179)	3	413	-		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)	75					Q92951	Missense_Mutation	SNP	ENST00000395797.1	37	c.224G>C	CCDS7206.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.547943	0.27652	.	.	ENSG00000169740	ENST00000374433;ENST00000395797	T;T	0.07216	3.21;3.21	4.28	2.17	0.27698	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.269468	0.26485	N	0.024120	T	0.03827	0.0108	N	0.08118	0	0.37721	D	0.924936	B	0.06786	0.001	B	0.04013	0.001	T	0.33929	-0.9849	10	0.87932	D	0	-8.9246	4.3532	0.11165	0.0:0.5476:0.0:0.4524	.	75	P17041	ZNF32_HUMAN	T	75	ENSP00000363556:R75T;ENSP00000379143:R75T	ENSP00000363556:R75T	R	-	2	0	ZNF32	43460102	0.692000	0.27719	1.000000	0.80357	0.650000	0.38633	1.489000	0.35562	0.561000	0.29186	-0.302000	0.09304	AGG		0.448	ZNF32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047723.1		NM_006973		37	23	0	0	0	0.139131	0	37	23		
PAPSS2	9060	broad.mit.edu	37	10	89504908	89504908	+	Silent	SNP	C	C	T	rs7918595		TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr10:89504908C>T	ENST00000361175.4	+	11	1995	c.1626C>T	c.(1624-1626)ctC>ctT	p.L542L	PAPSS2_ENST00000427144.2_Silent_p.L546L|PAPSS2_ENST00000456849.1_Silent_p.L547L	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	542					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		CCCCTGGCCTCACCTCTGTGG	0.512																																						uc001kex.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(1624-1626)CTC>CTT		3'-phosphoadenosine 5'-phosphosulfate synthase 2							73.0	70.0	71.0					10																	89504908		2203	4300	6503	SO:0001819	synonymous_variant	9060				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity	g.chr10:89504908C>T	AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.1626C>T	10.37:g.89504908C>T						PAPSS2_uc001kew.2_Silent_p.L547L	p.L542L	NM_004670	NP_004661	O95340	PAPS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)	11	1889	+		Melanoma(5;0.019)|Colorectal(252;0.123)	542			Adenylyl-sulfate kinase.		Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Silent	SNP	ENST00000361175.4	37	c.1626C>T	CCDS7385.1																																																																																				0.512	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049229.1				16	4	0	0	0	0.189662	0	16	4		
ACTA2	59	broad.mit.edu	37	10	90695108	90695108	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr10:90695108C>T	ENST00000458208.1	-	9	1480	c.1006G>A	c.(1006-1008)Gag>Aag	p.E336K	ACTA2-AS1_ENST00000437930.4_RNA|STAMBPL1_ENST00000371927.3_Intron|ACTA2_ENST00000224784.6_Missense_Mutation_p.E336K	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	336					glomerular mesangial cell development (GO:0072144)|muscle contraction (GO:0006936)|regulation of blood pressure (GO:0008217)|response to virus (GO:0009615)|vascular smooth muscle contraction (GO:0014829)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|smooth muscle contractile fiber (GO:0030485)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		TATTTGCGCTCCGGAGGGGCA	0.507											OREG0020356	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001kfp.2		NaN																	0					0						c.(1006-1008)GAG>AAG		alpha 2 actin							91.0	90.0	90.0					10																	90695108		2203	4300	6503	SO:0001583	missense	59				response to virus	cytosol	ATP binding	g.chr10:90695108C>T	X13839	CCDS7392.1	10q23.31	2014-09-17			ENSG00000107796	ENSG00000107796			130	protein-coding gene	gene with protein product		102620				2398629	Standard	NM_001141945		Approved	ACTSA	uc001kfp.3	P62736	OTTHUMG00000018700	ENST00000458208.1:c.1006G>A	10.37:g.90695108C>T	ENSP00000402373:p.Glu336Lys		OREG0020356	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1276	STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.1_Missense_Mutation_p.E291K|ACTA2_uc001kfq.2_Missense_Mutation_p.E336K|uc001kfo.1_RNA	p.E336K	NM_001613	NP_001604	P62736	ACTA_HUMAN		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)	9	1122	-		Colorectal(252;0.0161)	336					B2R8A4|P03996|P04108|Q6FI19	Missense_Mutation	SNP	ENST00000458208.1	37	c.1006G>A	CCDS7392.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.275741	0.80580	.	.	ENSG00000107796	ENST00000224784;ENST00000458208;ENST00000544901	D;D	0.95412	-3.7;-3.7	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.96775	0.8947	M	0.91717	3.235	0.80722	D	1	B	0.18013	0.025	B	0.31390	0.129	D	0.95312	0.8413	10	0.87932	D	0	.	18.0095	0.89219	0.0:1.0:0.0:0.0	.	336	P62736	ACTA_HUMAN	K	336;336;291	ENSP00000224784:E336K;ENSP00000402373:E336K	ENSP00000224784:E336K	E	-	1	0	ACTA2	90685088	1.000000	0.71417	0.967000	0.41034	0.994000	0.84299	7.818000	0.86416	2.610000	0.88304	0.591000	0.81541	GAG		0.507	ACTA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049264.1		NM_001613		56	16	0	0	0	0.139131	0	56	16		
CUTC	51076	broad.mit.edu	37	10	101503808	101503808	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr10:101503808C>G	ENST00000370476.5	+	5	547	c.418C>G	c.(418-420)Ctg>Gtg	p.L140V		NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	140					copper ion homeostasis (GO:0055070)|copper ion transport (GO:0006825)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	copper ion binding (GO:0005507)	p.L140V(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		TTGCCGCCCTCTGCCAGTCAC	0.348																																						uc001kqd.3		NaN																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	breast(1)	1						c.(418-420)CTG>GTG		cutC copper transporter homolog							130.0	123.0	126.0					10																	101503808		2203	4300	6503	SO:0001583	missense	51076				copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding	g.chr10:101503808C>G	AF132966	CCDS7483.1	10q24.31	2013-07-31	2013-07-31		ENSG00000119929	ENSG00000119929			24271	protein-coding gene	gene with protein product		610101	"""cutC copper transporter homolog (E. coli)"""			16182249	Standard	NM_015960		Approved	CGI-32	uc001kqd.4	Q9NTM9	OTTHUMG00000018889	ENST00000370476.5:c.418C>G	10.37:g.101503808C>G	ENSP00000359507:p.Leu140Val					CUTC_uc010qpk.1_Missense_Mutation_p.L140V|CUTC_uc001kqe.3_RNA	p.L140V	NM_015960	NP_057044	Q9NTM9	CUTC_HUMAN		Epithelial(162;3e-10)|all cancers(201;2.37e-08)	5	566	+		Colorectal(252;0.234)	140					Q5TCZ8|Q9Y321	Missense_Mutation	SNP	ENST00000370476.5	37	c.418C>G	CCDS7483.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.754494	0.49362	.	.	ENSG00000119929	ENST00000370476;ENST00000370472	.	.	.	4.97	4.06	0.47325	Copper homeostasis CutC domain (2);	0.069353	0.56097	D	0.000021	T	0.76162	0.3949	M	0.79805	2.47	0.54753	D	0.999989	D;P	0.61080	0.989;0.535	P;P	0.61940	0.896;0.481	T	0.79443	-0.1801	9	0.66056	D	0.02	-4.1008	11.8263	0.52269	0.0:0.8524:0.0:0.1476	.	140;140	B4DYM2;Q9NTM9	.;CUTC_HUMAN	V	140;77	.	ENSP00000359503:L77V	L	+	1	2	CUTC	101493798	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	1.406000	0.34646	1.437000	0.47472	0.591000	0.81541	CTG		0.348	CUTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049811.1		NM_015960		23	9	0	0	0	0.214465	0	23	9		
GFRA1	2674	broad.mit.edu	37	10	118030457	118030457	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr10:118030457C>G	ENST00000355422.6	-	3	761	c.211G>C	c.(211-213)Gag>Cag	p.E71Q	GFRA1_ENST00000369236.1_Missense_Mutation_p.E71Q|GFRA1_ENST00000490345.1_5'Flank|GFRA1_ENST00000439649.3_Missense_Mutation_p.E71Q	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	71					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		CTGCGGCACTCATCCTTGGCC	0.607																																					Ovarian(128;329 1725 45498 46808 50759)	uc001lcj.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(211-213)GAG>CAG		GDNF family receptor alpha 1 isoform a							75.0	69.0	71.0					10																	118030457		2203	4300	6503	SO:0001583	missense	2674				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	g.chr10:118030457C>G	AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.211G>C	10.37:g.118030457C>G	ENSP00000347591:p.Glu71Gln					GFRA1_uc001lci.2_Missense_Mutation_p.E71Q|GFRA1_uc009xyr.2_Missense_Mutation_p.E71Q	p.E71Q	NM_005264	NP_005255	P56159	GFRA1_HUMAN		all cancers(201;0.0337)	3	909	-		Lung NSC(174;0.21)	71			1.		A8KA21|O15507|O43912	Missense_Mutation	SNP	ENST00000355422.6	37	c.211G>C	CCDS44481.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775546	0.90195	.	.	ENSG00000151892	ENST00000439649;ENST00000369236;ENST00000355422;ENST00000369234	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	4.01	4.01	0.46588	GDNF/GAS1 (2);	0.000000	0.85682	D	0.000000	T	0.70710	0.3255	L	0.41492	1.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.68565	-0.5375	10	0.29301	T	0.29	-20.8251	16.3922	0.83543	0.0:1.0:0.0:0.0	.	71;71	P56159;P56159-2	GFRA1_HUMAN;.	Q	71	ENSP00000393725:E71Q;ENSP00000358239:E71Q;ENSP00000347591:E71Q;ENSP00000358237:E71Q	ENSP00000347591:E71Q	E	-	1	0	GFRA1	118020447	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.617000	0.83032	2.081000	0.62600	0.549000	0.68633	GAG		0.607	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050512.2		NM_145793		33	49	0	0	0	0.086207	0	33	49		
ANO9	338440	broad.mit.edu	37	11	418436	418436	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr11:418436G>A	ENST00000332826.6	-	23	2368	c.2284C>T	c.(2284-2286)Cgg>Tgg	p.R762W	SIGIRR_ENST00000382520.2_5'Flank|SIGIRR_ENST00000397632.3_5'Flank|SIGIRR_ENST00000332725.3_5'Flank	NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	762					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						ATTGGGGGCCGAGAGCCTGCC	0.627																																						uc001lpi.2		NaN																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(2284-2286)CGG>TGG		tumor protein p53 inducible protein 5							66.0	59.0	62.0					11																	418436		2202	4297	6499	SO:0001583	missense	338440					chloride channel complex	chloride channel activity	g.chr11:418436G>A	U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	20679	protein-coding gene	gene with protein product			"""tumor protein p53 inducible protein 5"", ""transmembrane protein 16J"""	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.2284C>T	11.37:g.418436G>A	ENSP00000332788:p.Arg762Trp					SIGIRR_uc001lpf.2_5'Flank|SIGIRR_uc001lpe.1_5'Flank|ANO9_uc001lph.2_Missense_Mutation_p.R455W|ANO9_uc010qvv.1_Missense_Mutation_p.R618W	p.R762W	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN			23	2369	-			762			Cytoplasmic (Potential).		B3KUC4|B4E134|Q8TEN4	Missense_Mutation	SNP	ENST00000332826.6	37	c.2284C>T	CCDS31326.1	.	.	.	.	.	.	.	.	.	.	g	10.53	1.376366	0.24857	.	.	ENSG00000185101	ENST00000332826	T	0.69175	-0.38	2.64	-5.27	0.02763	.	.	.	.	.	T	0.36082	0.0954	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.13469	-1.0508	9	0.66056	D	0.02	.	0.4962	0.00572	0.3283:0.2119:0.1149:0.345	.	463;762	A1A5B4-2;A1A5B4	.;ANO9_HUMAN	W	762	ENSP00000332788:R762W	ENSP00000332788:R762W	R	-	1	2	ANO9	408436	0.004000	0.15560	0.000000	0.03702	0.099000	0.18886	0.071000	0.14594	-1.777000	0.01283	0.165000	0.16767	CGG		0.627	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1		NM_001012302		14	28	0	0	0	0.132662	0	14	28		
TSPAN4	7106	broad.mit.edu	37	11	862710	862710	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr11:862710C>T	ENST00000397404.1	+	4	483	c.224C>T	c.(223-225)gCc>gTc	p.A75V	TSPAN4_ENST00000397411.2_Missense_Mutation_p.A75V|TSPAN4_ENST00000397408.1_Missense_Mutation_p.A75V|TSPAN4_ENST00000409531.1_Missense_Mutation_p.A94V|TSPAN4_ENST00000409543.2_Missense_Mutation_p.A75V|TSPAN4_ENST00000397396.1_Missense_Mutation_p.A11V|TSPAN4_ENST00000525201.1_Missense_Mutation_p.A11V|TSPAN4_ENST00000346501.4_Missense_Mutation_p.A75V|TSPAN4_ENST00000397406.1_Missense_Mutation_p.A75V|TSPAN4_ENST00000397397.2_Missense_Mutation_p.A75V|RP11-1391J7.1_ENST00000506172.2_RNA	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	75					protein complex assembly (GO:0006461)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	antigen binding (GO:0003823)|integrin binding (GO:0005178)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGCCTGGGTGCCATCAAGGAG	0.667																																						uc001lsd.1		NaN																	0				breast(1)	1						c.(223-225)GCC>GTC		tetraspanin 4 isoform a							51.0	49.0	50.0					11																	862710		2202	4299	6501	SO:0001583	missense	7106				protein complex assembly	integral to plasma membrane		g.chr11:862710C>T	AF022813	CCDS7721.1, CCDS41589.1	11p15.5	2013-02-14	2005-03-21	2005-03-21	ENSG00000214063	ENSG00000214063		"""Tetraspanins"""	11859	protein-coding gene	gene with protein product		602644	"""transmembrane 4 superfamily member 7"""	TM4SF7		9360996	Standard	XM_005253102		Approved	NAG-2, TSPAN-4, TETRASPAN	uc001lsf.1	O14817	OTTHUMG00000133305	ENST00000397404.1:c.224C>T	11.37:g.862710C>T	ENSP00000380553:p.Ala75Val					TSPAN4_uc001lse.1_Missense_Mutation_p.A11V|TSPAN4_uc001lsf.1_Missense_Mutation_p.A75V|TSPAN4_uc001lsg.1_Missense_Mutation_p.A75V|TSPAN4_uc001lsh.1_Missense_Mutation_p.A75V|TSPAN4_uc001lsi.1_Missense_Mutation_p.A75V|TSPAN4_uc001lsj.1_Missense_Mutation_p.A75V	p.A75V	NM_003271	NP_003262	O14817	TSN4_HUMAN		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	4	433	+		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	75			Helical; (Potential).		Q6IAP6	Missense_Mutation	SNP	ENST00000397404.1	37	c.224C>T	CCDS7721.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.289670	0.80914	.	.	ENSG00000214063	ENST00000397397;ENST00000397411;ENST00000397396;ENST00000397408;ENST00000530404;ENST00000525334;ENST00000397406;ENST00000409543;ENST00000525201;ENST00000397404;ENST00000346501;ENST00000409531;ENST00000527644	D;D;D;D;D;D;D;D;D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77;-1.77;-1.77;-1.77;-1.77;-1.77;-1.77;-1.77;-1.77	3.67	2.72	0.32119	Tetraspanin, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.90403	0.6996	M	0.86028	2.79	0.50171	D	0.999853	D	0.89917	1.0	D	0.91635	0.999	D	0.91128	0.4935	10	0.66056	D	0.02	.	11.3433	0.49546	0.0:0.908:0.0:0.092	.	75	O14817	TSN4_HUMAN	V	75;75;11;75;75;11;75;75;11;75;75;94;75	ENSP00000380552:A75V;ENSP00000380558:A75V;ENSP00000380551:A11V;ENSP00000380555:A75V;ENSP00000437266:A75V;ENSP00000433980:A11V;ENSP00000380554:A75V;ENSP00000386513:A75V;ENSP00000431943:A11V;ENSP00000380553:A75V;ENSP00000324304:A75V;ENSP00000386899:A94V;ENSP00000436260:A75V	ENSP00000324304:A75V	A	+	2	0	TSPAN4	852710	1.000000	0.71417	0.999000	0.59377	0.799000	0.45148	5.835000	0.69368	1.903000	0.55091	0.561000	0.74099	GCC		0.667	TSPAN4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257102.2				8	22	0	0	0	0.080935	0	8	22		
OR52W1	120787	broad.mit.edu	37	11	6220474	6220474	+	Silent	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr11:6220474C>G	ENST00000311352.2	+	1	99	c.21C>G	c.(19-21)ctC>ctG	p.L7L	RP11-290F24.6_ENST00000600308.1_lincRNA	NM_001005178.1	NP_001005178.1	Q6IF63	O52W1_HUMAN	olfactory receptor, family 52, subfamily W, member 1	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCTACAACTCAATTCCACCT	0.517																																						uc010qzz.1		NaN																	0					0						c.(19-21)CTC>CTG		olfactory receptor, family 52, subfamily W,							100.0	90.0	94.0					11																	6220474		2201	4296	6497	SO:0001819	synonymous_variant	120787				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6220474C>G	AB065511	CCDS31407.1	11p15.4	2012-08-09		2004-03-10	ENSG00000175485	ENSG00000175485		"""GPCR / Class A : Olfactory receptors"""	15239	protein-coding gene	gene with protein product				OR52W1P			Standard	NM_001005178		Approved		uc010qzz.2	Q6IF63	OTTHUMG00000165378	ENST00000311352.2:c.21C>G	11.37:g.6220474C>G							p.L7L	NM_001005178	NP_001005178	Q6IF63	O52W1_HUMAN		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	21	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	7			Extracellular (Potential).		Q8NH78	Silent	SNP	ENST00000311352.2	37	c.21C>G	CCDS31407.1																																																																																				0.517	OR52W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383758.1		NM_001005178		34	43	0	0	0	0.214465	0	34	43		
TSG101	7251	broad.mit.edu	37	11	18503374	18503374	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr11:18503374C>A	ENST00000251968.3	-	9	1301	c.886G>T	c.(886-888)Gaa>Taa	p.E296*	TSG101_ENST00000357193.3_Nonsense_Mutation_p.E191*|TSG101_ENST00000536719.1_Nonsense_Mutation_p.E296*	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101	296					cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cellular protein modification process (GO:0006464)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|keratinocyte differentiation (GO:0030216)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell growth (GO:0001558)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral budding (GO:0046755)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transcription corepressor activity (GO:0003714)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						CTGAGTTCTTCATCCTTCTTT	0.358																																					GBM(99;1348 1396 8611 26475 50572)	uc001mor.2		NaN																	0					0						c.(886-888)GAA>TAA		tumor susceptibility gene 101							117.0	117.0	117.0					11																	18503374		2199	4293	6492	SO:0001587	stop_gained	7251				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr11:18503374C>A	U82130	CCDS7842.1	11p15	2013-08-22	2013-08-22		ENSG00000074319	ENSG00000074319			15971	protein-coding gene	gene with protein product		601387	"""tumor susceptibility gene 10"", ""tumor susceptibility gene 101"""	TSG10		9019400, 9241264	Standard	NM_006292		Approved	VPS23	uc001mor.3	Q99816	OTTHUMG00000167725	ENST00000251968.3:c.886G>T	11.37:g.18503374C>A	ENSP00000251968:p.Glu296*						p.E296*	NM_006292	NP_006283	Q99816	TS101_HUMAN			9	1012	-			296			Potential.		Q9BUM5	Nonsense_Mutation	SNP	ENST00000251968.3	37	c.886G>T	CCDS7842.1	.	.	.	.	.	.	.	.	.	.	C	39	7.451316	0.98292	.	.	ENSG00000074319	ENST00000536719;ENST00000251968;ENST00000357193	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-9.1189	18.6044	0.91261	0.0:1.0:0.0:0.0	.	.	.	.	X	296;296;191	.	ENSP00000251968:E296X	E	-	1	0	TSG101	18459950	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.506000	0.81665	2.828000	0.97474	0.655000	0.94253	GAA		0.358	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395906.1		NM_006292		10	13	1	0	2.17888e-05	0.058154	2.21948e-05	10	13		
API5	8539	broad.mit.edu	37	11	43333683	43333683	+	Silent	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr11:43333683G>A	ENST00000531273.1	+	1	145	c.6G>A	c.(4-6)ccG>ccA	p.P2P	API5_ENST00000455725.2_5'UTR|API5_ENST00000534600.1_Silent_p.P2P|API5_ENST00000420461.2_Silent_p.P2P|API5_ENST00000534695.1_Silent_p.P2P|API5_ENST00000378852.3_Silent_p.P2P			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	2	ARM-like and Heat-like helical repeats.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fibroblast apoptotic process (GO:2000270)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						TCACCATGCCGACAGTAGAGG	0.647											OREG0020900	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(1;98 122 5625 20895 49453)	uc010rfh.1		NaN																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(4-6)CCG>CCA		apoptosis inhibitor 5 isoform a							46.0	43.0	44.0					11																	43333683		2203	4300	6503	SO:0001819	synonymous_variant	8539				anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding	g.chr11:43333683G>A	U83857	CCDS31465.1, CCDS44572.1, CCDS44573.1	11p12	2010-09-30			ENSG00000166181	ENSG00000166181			594	protein-coding gene	gene with protein product	"""API5-like 1"", ""fibroblast growth factor 2-interacting factor 2"", ""migration-inducing protein MIG8"""	609774				9307294	Standard	NR_024625		Approved	AAC-11, API5L1, AAC11	uc010rfh.1	Q9BZZ5	OTTHUMG00000166395	ENST00000531273.1:c.6G>A	11.37:g.43333683G>A			OREG0020900	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	915	API5_uc010rfg.1_5'UTR|API5_uc001mxf.2_Silent_p.P2P|API5_uc010rfi.1_Silent_p.P2P	p.P2P	NM_001142930	NP_001136402	Q9BZZ5	API5_HUMAN			1	179	+			2				Not acetylated.	B4DGR0|B4DRJ2|D3DR21|O15441|Q9Y4J7	Silent	SNP	ENST00000531273.1	37	c.6G>A	CCDS44572.1																																																																																				0.647	API5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389545.1		NM_006595		42	35	0	0	0	0.139131	0	42	35		
TCN1	6947	broad.mit.edu	37	11	59630175	59630175	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr11:59630175C>G	ENST00000257264.3	-	3	384	c.280G>C	c.(280-282)Gag>Cag	p.E94Q	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	94	Globular N-terminal alpha domain.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAGGCAAGCTCTCCCGAGCTT	0.383																																						uc001noj.2		NaN																	0				ovary(2)	2						c.(280-282)GAG>CAG		transcobalamin I precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						109.0	103.0	105.0					11																	59630175		2201	4295	6496	SO:0001583	missense	6947				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	g.chr11:59630175C>G	J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"""haptocorin"", ""haptocorrin"""	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.280G>C	11.37:g.59630175C>G	ENSP00000257264:p.Glu94Gln						p.E94Q	NM_001062	NP_001053	P20061	TCO1_HUMAN			3	378	-		all_epithelial(135;0.198)	94					A8KAC5|Q8WV77	Missense_Mutation	SNP	ENST00000257264.3	37	c.280G>C	CCDS7978.1	.	.	.	.	.	.	.	.	.	.	C	0.043	-1.275401	0.01410	.	.	ENSG00000134827	ENST00000257264	T	0.32023	1.47	5.53	1.27	0.21489	.	0.482930	0.18073	N	0.152557	T	0.08582	0.0213	N	0.03000	-0.44	0.20307	N	0.999911	B	0.06786	0.001	B	0.04013	0.001	T	0.35151	-0.9800	10	0.02654	T	1	.	3.9795	0.09489	0.088:0.3413:0.4244:0.1462	.	94	P20061	TCO1_HUMAN	Q	94	ENSP00000257264:E94Q	ENSP00000257264:E94Q	E	-	1	0	TCN1	59386751	0.865000	0.29922	0.994000	0.49952	0.371000	0.29859	-0.189000	0.09629	0.266000	0.21894	-0.171000	0.13296	GAG		0.383	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1		NM_001062		15	26	0	0	0	0.055883	0	15	26		
KRTAP5-11	440051	broad.mit.edu	37	11	71293573	71293573	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr11:71293573G>C	ENST00000398530.1	-	1	348	c.311C>G	c.(310-312)tCc>tGc	p.S104C	KRTAP5-11_ENST00000526239.1_Intron|AP000867.1_ENST00000343767.3_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	104	6 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						ggagcagctggactggcagca	0.617																																						uc001oqu.2		NaN																	0					0						c.(310-312)TCC>TGC		keratin associated protein 5-11							72.0	90.0	84.0					11																	71293573		2197	4293	6490	SO:0001583	missense	440051					keratin filament		g.chr11:71293573G>C	AB126080	CCDS41685.1	11q13.4	2008-11-06			ENSG00000204571	ENSG00000204571		"""Keratin associated proteins"""	23606	protein-coding gene	gene with protein product						15144888	Standard	NM_001005405		Approved	KRTAP5.11, KRTAP5-6	uc001oqu.3	Q6L8G4	OTTHUMG00000057586	ENST00000398530.1:c.311C>G	11.37:g.71293573G>C	ENSP00000381541:p.Ser104Cys						p.S104C	NM_001005405	NP_001005405	Q6L8G4	KR511_HUMAN			1	349	-			104			6 X 4 AA repeats of C-C-X-P.			Missense_Mutation	SNP	ENST00000398530.1	37	c.311C>G	CCDS41685.1	.	.	.	.	.	.	.	.	.	.	.	5.152	0.213557	0.09757	.	.	ENSG00000204571	ENST00000376535;ENST00000398530	T	0.01584	4.75	2.06	1.1	0.20463	.	.	.	.	.	T	0.02970	0.0088	M	0.79258	2.445	0.09310	N	1	B	0.14012	0.009	B	0.14023	0.01	T	0.38714	-0.9648	9	0.87932	D	0	.	3.4442	0.07474	0.171:0.2694:0.5595:0.0	.	104	Q6L8G4	KR511_HUMAN	C	104	ENSP00000381541:S104C	ENSP00000365718:S104C	S	-	2	0	KRTAP5-11	70971221	0.996000	0.38824	0.070000	0.20053	0.604000	0.37047	0.137000	0.15995	0.396000	0.25283	0.545000	0.68477	TCC		0.617	KRTAP5-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127969.1		NM_001005405		65	149	0	0	0	0.139131	0	65	149		
NAALAD2	10003	broad.mit.edu	37	11	89914805	89914805	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr11:89914805G>A	ENST00000534061.1	+	17	2106	c.1876G>A	c.(1876-1878)Gtg>Atg	p.V626M	NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.V593M	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	626					neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ATTTTCTGCTGTGAAAAACTT	0.318																																						uc001pdf.3		NaN																	0				pancreas(1)|skin(1)	2						c.(1876-1878)GTG>ATG		N-acetylated alpha-linked acidic dipeptidase 2							33.0	37.0	35.0					11																	89914805		2196	4290	6486	SO:0001583	missense	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89914805G>A	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.1876G>A	11.37:g.89914805G>A	ENSP00000432481:p.Val626Met					NAALAD2_uc009yvx.2_Missense_Mutation_p.V593M|NAALAD2_uc009yvy.2_Intron	p.V626M	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN			17	1985	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	626			Extracellular (Potential).		B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	37	c.1876G>A	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872395	0.72180	.	.	ENSG00000077616	ENST00000534061;ENST00000321955	T;T	0.59083	0.29;0.29	4.96	4.96	0.65561	Transferrin receptor-like, dimerisation domain (3);	0.095834	0.45867	D	0.000327	T	0.72890	0.3517	M	0.87971	2.92	0.80722	D	1	D	0.57899	0.981	P	0.55999	0.789	T	0.77558	-0.2543	9	.	.	.	-7.1792	12.006	0.53259	0.0797:0.0:0.9203:0.0	.	626	Q9Y3Q0	NALD2_HUMAN	M	626;593	ENSP00000432481:V626M;ENSP00000320083:V593M	.	V	+	1	0	NAALAD2	89554453	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.619000	0.74219	2.454000	0.82982	0.650000	0.86243	GTG		0.318	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2		NM_005467		3	10	0	0	0	0.184627	0	3	10		
NAALAD2	10003	broad.mit.edu	37	11	89924900	89924900	+	Silent	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr11:89924900G>A	ENST00000534061.1	+	19	2438	c.2208G>A	c.(2206-2208)ctG>ctA	p.L736L	NAALAD2_ENST00000375944.3_3'UTR|NAALAD2_ENST00000321955.4_Silent_p.L703L	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	736					neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CAGGAACTCTGAAAGAAGTAT	0.368																																						uc001pdf.3		NaN																	0				pancreas(1)|skin(1)	2						c.(2206-2208)CTG>CTA		N-acetylated alpha-linked acidic dipeptidase 2							58.0	61.0	60.0					11																	89924900		2201	4297	6498	SO:0001819	synonymous_variant	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89924900G>A	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.2208G>A	11.37:g.89924900G>A						NAALAD2_uc009yvx.2_Silent_p.L703L|NAALAD2_uc009yvy.2_3'UTR	p.L736L	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN			19	2317	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	736			Extracellular (Potential).		B3KQR4|Q4KKV4|Q4VAM9	Silent	SNP	ENST00000534061.1	37	c.2208G>A	CCDS8288.1																																																																																				0.368	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2		NM_005467		6	17	0	0	0	0.038147	0	6	17		
IL10RA	3587	broad.mit.edu	37	11	117869673	117869673	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr11:117869673G>A	ENST00000227752.3	+	7	1174	c.1054G>A	c.(1054-1056)Gag>Aag	p.E352K	IL10RA_ENST00000545409.1_Missense_Mutation_p.E203K|IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000541785.1_Missense_Mutation_p.E332K	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	352					cytokine-mediated signaling pathway (GO:0019221)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-10 receptor activity (GO:0004920)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		GGGAAACAGGGAGCCCCCTGT	0.647																																						uc001prv.2		NaN																	0				ovary(1)	1						c.(1054-1056)GAG>AAG		interleukin 10 receptor, alpha precursor							41.0	41.0	41.0					11																	117869673		2200	4296	6496	SO:0001583	missense	3587					integral to membrane|plasma membrane	interleukin-10 receptor activity	g.chr11:117869673G>A	U00672	CCDS8388.1	11q23	2014-09-17			ENSG00000110324	ENSG00000110324		"""Interleukins and interleukin receptors"", ""CD molecules"""	5964	protein-coding gene	gene with protein product		146933		IL10R		8120391	Standard	NR_026691		Approved	HIL-10R, CDW210A, CD210a, CD210	uc001prv.3	Q13651	OTTHUMG00000166523	ENST00000227752.3:c.1054G>A	11.37:g.117869673G>A	ENSP00000227752:p.Glu352Lys					IL10RA_uc010rxl.1_Missense_Mutation_p.E332K|IL10RA_uc010rxm.1_Missense_Mutation_p.E332K|IL10RA_uc010rxn.1_Missense_Mutation_p.E203K|IL10RA_uc001prw.2_Missense_Mutation_p.E203K	p.E352K	NM_001558	NP_001549	Q13651	I10R1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)	7	1131	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	352			Cytoplasmic (Potential).		A8K6I0|B0YJ27	Missense_Mutation	SNP	ENST00000227752.3	37	c.1054G>A	CCDS8388.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.310843	0.40895	.	.	ENSG00000110324	ENST00000227752;ENST00000541785;ENST00000545409;ENST00000536858	T;T;T	0.21543	2.0;2.0;2.0	5.66	0.562	0.17290	.	1.677930	0.02595	N	0.100403	T	0.13030	0.0316	L	0.29908	0.895	0.09310	N	1	P;P	0.41848	0.763;0.651	B;B	0.36608	0.229;0.115	T	0.17048	-1.0382	10	0.08179	T	0.78	-0.4404	5.0976	0.14742	0.3229:0.1408:0.5363:0.0	.	332;352	F5GYV8;Q13651	.;I10R1_HUMAN	K	352;332;203;332	ENSP00000227752:E352K;ENSP00000441397:E332K;ENSP00000443019:E203K	ENSP00000227752:E352K	E	+	1	0	IL10RA	117374883	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.270000	0.18607	0.072000	0.16694	0.563000	0.77884	GAG		0.647	IL10RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390167.1				19	29	0	0	0	0.108266	0	19	29		
GNB3	2784	broad.mit.edu	37	12	6954874	6954874	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr12:6954874C>G	ENST00000229264.3	+	10	1229	c.824C>G	c.(823-825)tCc>tGc	p.S275C	GNB3_ENST00000435982.2_Missense_Mutation_p.S274C|CDCA3_ENST00000604599.1_5'UTR|CDCA3_ENST00000422785.3_3'UTR	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	275					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						GGCATCACGTCCGTGGCCTTC	0.597																																						uc001qrd.2		NaN																	0					0						c.(823-825)TCC>TGC		guanine nucleotide-binding protein, beta-3							179.0	166.0	170.0					12																	6954874		2203	4300	6503	SO:0001583	missense	2784				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr12:6954874C>G		CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"""WD repeat domain containing"""	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517	ENST00000229264.3:c.824C>G	12.37:g.6954874C>G	ENSP00000229264:p.Ser275Cys					GNB3_uc001qrc.2_Missense_Mutation_p.S231C|GNB3_uc009zfe.2_Missense_Mutation_p.S274C|CDCA3_uc001qre.2_3'UTR|uc001qrf.1_RNA	p.S275C	NM_002075	NP_002066	P16520	GBB3_HUMAN			10	1229	+			275			WD 6.		Q96B71|Q9BQC0	Missense_Mutation	SNP	ENST00000229264.3	37	c.824C>G	CCDS8564.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.882745	0.51908	.	.	ENSG00000111664	ENST00000229264;ENST00000435982;ENST00000537035	T;T;T	0.59906	0.23;0.23;0.23	4.63	3.74	0.42951	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.74268	0.3694	M	0.77406	2.37	0.80722	D	1	D;D	0.76494	0.999;0.993	D;D	0.72338	0.963;0.977	T	0.77965	-0.2389	10	0.87932	D	0	-16.0253	12.8139	0.57654	0.0:0.9208:0.0:0.0792	.	274;275	E9PCP0;P16520	.;GBB3_HUMAN	C	275;274;234	ENSP00000229264:S275C;ENSP00000414734:S274C;ENSP00000445967:S234C	ENSP00000229264:S275C	S	+	2	0	GNB3	6825135	1.000000	0.71417	0.022000	0.16811	0.337000	0.28794	7.651000	0.83577	1.159000	0.42565	-0.140000	0.14226	TCC		0.597	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1		NM_002075		149	237	0	0	0	0.139131	0	149	237		
CDCA3	83461	broad.mit.edu	37	12	6959647	6959647	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr12:6959647C>T	ENST00000538862.2	-	3	1135	c.234G>A	c.(232-234)atG>atA	p.M78I	USP5_ENST00000229268.8_5'Flank|CDCA3_ENST00000229265.6_Missense_Mutation_p.M78I|CDCA3_ENST00000535406.1_Missense_Mutation_p.M78I|CDCA3_ENST00000604599.1_5'Flank|CDCA3_ENST00000540683.1_Missense_Mutation_p.M78I|CDCA3_ENST00000422785.3_Missense_Mutation_p.M78I|USP5_ENST00000389231.5_5'Flank			Q99618	CDCA3_HUMAN	cell division cycle associated 3	78					mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						TGCTGGTCTTCATAGGTGTCC	0.542																																						uc001qrg.2		NaN																	0					0						c.(232-234)ATG>ATA		cell division cycle associated 3							155.0	143.0	147.0					12																	6959647		2203	4300	6503	SO:0001583	missense	83461				cell division|mitosis	cytosol		g.chr12:6959647C>T	BG354576	CCDS8565.1, CCDS73428.1	12p13.31	2010-07-20				ENSG00000111665			14624	protein-coding gene	gene with protein product	"""trigger of mitotic entry 1"""	607749				9074930, 12188893	Standard	XR_242988		Approved	TOME-1, GRCC8	uc001qrg.2	Q99618		ENST00000538862.2:c.234G>A	12.37:g.6959647C>T	ENSP00000442068:p.Met78Ile					CDCA3_uc001qre.2_Missense_Mutation_p.M78I|uc001qrf.1_5'Flank|USP5_uc001qri.3_5'Flank|USP5_uc001qrh.3_5'Flank	p.M78I	NM_031299	NP_112589	Q99618	CDCA3_HUMAN			3	362	-			78					A8K5V6|D3DUS6	Missense_Mutation	SNP	ENST00000538862.2	37	c.234G>A	CCDS8565.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.722771	0.68959	.	.	ENSG00000237240;ENSG00000111665;ENSG00000111665;ENSG00000111665;ENSG00000111665	ENST00000422785;ENST00000229265;ENST00000538862;ENST00000535406;ENST00000540683	.	.	.	5.67	5.67	0.87782	.	0.053008	0.85682	D	0.000000	T	0.72211	0.3432	L	0.58669	1.825	0.41939	D	0.9906	P;P	0.49696	0.927;0.865	P;P	0.56788	0.806;0.519	T	0.70124	-0.4958	9	0.37606	T	0.19	-18.4066	16.6898	0.85318	0.0:1.0:0.0:0.0	.	78;78	Q99618;F8WDL1	CDCA3_HUMAN;.	I	78	.	ENSP00000229265:M78I	M	-	3	0	U47924.25;CDCA3	6829908	1.000000	0.71417	1.000000	0.80357	0.503000	0.33858	3.961000	0.56759	2.677000	0.91161	0.655000	0.94253	ATG		0.542	CDCA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401940.2		NM_031299		96	117	0	0	0	0.139131	0	96	117		
ATF7IP	55729	broad.mit.edu	37	12	14633975	14633975	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr12:14633975C>T	ENST00000540793.1	+	12	3291	c.3136C>T	c.(3136-3138)Cag>Tag	p.Q1046*	ATF7IP_ENST00000261168.4_Nonsense_Mutation_p.Q1046*|ATF7IP_ENST00000544627.1_Nonsense_Mutation_p.Q1054*|ATF7IP_ENST00000536444.1_Nonsense_Mutation_p.Q1045*|ATF7IP_ENST00000543189.1_Nonsense_Mutation_p.Q1045*			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1046					DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TCCAGTAACTCAGGTGACCAC	0.453																																						uc001rbw.2		NaN																	0				lung(3)|ovary(1)|skin(1)	5						c.(3136-3138)CAG>TAG		activating transcription factor 7 interacting							111.0	111.0	111.0					12																	14633975		2203	4300	6503	SO:0001587	stop_gained	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14633975C>T	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.3136C>T	12.37:g.14633975C>T	ENSP00000444589:p.Gln1046*					ATF7IP_uc001rbv.1_Nonsense_Mutation_p.Q1045*|ATF7IP_uc001rbx.2_Nonsense_Mutation_p.Q1045*|ATF7IP_uc001rby.3_Nonsense_Mutation_p.Q1046*|ATF7IP_uc001rca.2_Nonsense_Mutation_p.Q1046*	p.Q1046*	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN			13	3294	+			1046					F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Nonsense_Mutation	SNP	ENST00000540793.1	37	c.3136C>T	CCDS8663.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.506146|9.506146	0.99190|0.99190	.|.	.|.	ENSG00000171681|ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793|ENST00000535738	.|.	.|.	.|.	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	0.000000|.	0.64402|.	D|.	0.000014|.	.|T	.|0.76478	.|0.3993	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74830	.|-0.3531	.|3	0.72032|.	D|.	0.01|.	-7.5024|-7.5024	19.6057|19.6057	0.95580|0.95580	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	1046;1045;1045;1054;1046|59	.|.	ENSP00000261168:Q1046X|.	Q|S	+|+	1|2	0|0	ATF7IP|ATF7IP	14525242|14525242	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.042000|5.042000	0.64202|0.64202	2.693000|2.693000	0.91896|0.91896	0.650000|0.650000	0.86243|0.86243	CAG|TCA		0.453	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1		NM_018179		37	40	0	0	0	0.139131	0	37	40		
YAF2	10138	broad.mit.edu	37	12	42554413	42554413	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr12:42554413G>A	ENST00000534854.2	-	4	588	c.521C>T	c.(520-522)tCa>tTa	p.S174L	YAF2_ENST00000380788.3_Missense_Mutation_p.S165L|YAF2_ENST00000442791.3_Missense_Mutation_p.S198L|YAF2_ENST00000327791.4_Missense_Mutation_p.S150L|YAF2_ENST00000380790.4_Missense_Mutation_p.S132L	NM_005748.4	NP_005739.2	Q8IY57	YAF2_HUMAN	YY1 associated factor 2	174					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)	8	all_cancers(12;0.000425)	Lung NSC(34;0.0402)|all_lung(34;0.057)		GBM - Glioblastoma multiforme(48;0.0514)		TCCATTCAATGATGAGGCTTC	0.423																																						uc001rmv.2		NaN																	0					0						c.(520-522)TCA>TTA		YY1 associated factor 2							97.0	94.0	95.0					12																	42554413		2203	4300	6503	SO:0001583	missense	10138				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr12:42554413G>A	U72209	CCDS31775.1, CCDS53778.1, CCDS53779.1, CCDS53780.1	12q12	2014-09-04			ENSG00000015153	ENSG00000015153			17363	protein-coding gene	gene with protein product		607534				9016636	Standard	NM_001190977		Approved		uc001rmw.3	Q8IY57	OTTHUMG00000169380	ENST00000534854.2:c.521C>T	12.37:g.42554413G>A	ENSP00000439256:p.Ser174Leu					YAF2_uc001rmw.2_Missense_Mutation_p.S198L|YAF2_uc010sko.1_Missense_Mutation_p.S165L|YAF2_uc010skp.1_Missense_Mutation_p.S132L	p.S174L	NM_005748	NP_005739	Q8IY57	YAF2_HUMAN		GBM - Glioblastoma multiforme(48;0.0514)	4	589	-	all_cancers(12;0.000425)	Lung NSC(34;0.0402)|all_lung(34;0.057)	174					A8K5P0|B4DFU3|G3V465|Q99710	Missense_Mutation	SNP	ENST00000534854.2	37	c.521C>T	CCDS31775.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.087412	0.55968	.	.	ENSG00000015153	ENST00000327791;ENST00000442791;ENST00000534854;ENST00000380790;ENST00000380788	.	.	.	5.71	5.71	0.89125	.	0.059318	0.64402	D	0.000001	T	0.72407	0.3456	L	0.33485	1.01	0.80722	D	1	D;D;D;D	0.67145	0.989;0.993;0.996;0.981	D;D;D;D	0.77557	0.985;0.977;0.99;0.966	T	0.72074	-0.4400	9	0.49607	T	0.09	.	19.8632	0.96793	0.0:0.0:1.0:0.0	.	132;165;150;174	B4DFU3;A6NL56;Q8IY57-2;Q8IY57	.;.;.;YAF2_HUMAN	L	150;198;174;132;165	.	ENSP00000328004:S150L	S	-	2	0	YAF2	40840680	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	7.495000	0.81514	2.699000	0.92147	0.655000	0.94253	TCA		0.423	YAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403781.1				8	6	0	0	0	0.058154	0	8	6		
KRT6C	286887	broad.mit.edu	37	12	52865005	52865006	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr12:52865005_52865006GG>TT	ENST00000252250.6	-	5	1034_1035	c.987_988CC>AA	c.(985-990)gaCCtg>gaAAtg	p.329_330DL>EM		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	329	Linker 12.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		ATGCTGTCCAGGTCCAGGTTGC	0.559																																						uc001sal.3		NaN																	0				ovary(2)	2						c.(985-990)GACCTG>GAAATG		keratin 6C																																				SO:0001583	missense	286887				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:52865005_52865006GG>TT	L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20406	protein-coding gene	gene with protein product		612315	"""keratin 6E"""	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.987_988delinsTT	12.37:g.52865005_52865006delinsTT	ENSP00000252250:p.D329_L330delinsEM						p.329_330DL>EM	NM_173086	NP_775109	P48668	K2C6C_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0828)	5	1035_1036	-			329_330			Rod.|Linker 12.		A1L4L5|P48666|Q2TAZ9|Q7RTN9	Missense_Mutation	DNP	ENST00000252250.6	37	c.987_988CC>AA	CCDS8829.1																																																																																				0.559	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1		NM_173086		75	107	0	0	0	0.115264	0	75	107		
PAN2	9924	broad.mit.edu	37	12	56718262	56718262	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr12:56718262G>A	ENST00000425394.2	-	12	2120	c.1744C>T	c.(1744-1746)Cgg>Tgg	p.R582W	PAN2_ENST00000440411.3_Missense_Mutation_p.R582W|PAN2_ENST00000548043.1_Missense_Mutation_p.R582W|PAN2_ENST00000257931.5_Missense_Mutation_p.R582W	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	CGGAATGCCCGAAGAAAATTA	0.498																																						uc001skx.2		NaN																	0				ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						c.(1744-1746)CGG>TGG		PAN2 polyA specific ribonuclease subunit homolog							64.0	67.0	66.0					12																	56718262		2203	4300	6503	SO:0001583	missense	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56718262G>A	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.1744C>T	12.37:g.56718262G>A	ENSP00000401721:p.Arg582Trp					PAN2_uc001skw.2_5'Flank|PAN2_uc001skz.2_Missense_Mutation_p.R582W|PAN2_uc001sky.2_Missense_Mutation_p.R582W	p.R582W	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN			12	2117	-			582						Missense_Mutation	SNP	ENST00000425394.2	37	c.1744C>T	CCDS44922.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900530	0.72754	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.05996	3.36;3.36;3.36;3.36	5.17	4.23	0.50019	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.29914	0.0748	M	0.89214	3.015	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.13388	-1.0511	10	0.87932	D	0	-15.128	14.668	0.68924	0.0:0.0:0.8548:0.1452	.	582;582;582	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	W	582	ENSP00000401721:R582W;ENSP00000388231:R582W;ENSP00000257931:R582W;ENSP00000449861:R582W	ENSP00000257931:R582W	R	-	1	2	PAN2	55004529	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.253000	0.72453	2.581000	0.87130	0.455000	0.32223	CGG		0.498	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1		NM_014871		10	5	0	0	0	0.058154	0	10	5		
HAL	3034	broad.mit.edu	37	12	96368046	96368046	+	Silent	SNP	C	C	T	rs574414004	byFrequency	TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr12:96368046C>T	ENST00000261208.3	-	21	2306	c.1938G>A	c.(1936-1938)aaG>aaA	p.K646K	HAL_ENST00000538703.1_3'UTR|HAL_ENST00000541929.1_Silent_p.K438K	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	646					biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	histidine ammonia-lyase activity (GO:0004397)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	TGGTGGATTTCTTGTGCAGAA	0.438																																					NSCLC(169;943 2815 23563 30031)	uc001tem.1		NaN																	0				ovary(2)|skin(1)	3						c.(1936-1938)AAG>AAA		histidine ammonia-lyase	L-Histidine(DB00117)						156.0	154.0	155.0					12																	96368046		2203	4300	6503	SO:0001819	synonymous_variant	3034				biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity	g.chr12:96368046C>T		CCDS9058.1, CCDS58264.1, CCDS58265.1	12q22-q24.1	1991-07-12				ENSG00000084110	4.3.1.3		4806	protein-coding gene	gene with protein product		609457		HIS			Standard	NM_002108		Approved		uc001tem.2	P42357	OTTHUMG00000170354	ENST00000261208.3:c.1938G>A	12.37:g.96368046C>T						HAL_uc009zti.1_RNA|HAL_uc010suw.1_Silent_p.K438K|HAL_uc010sux.1_3'UTR	p.K646K	NM_002108	NP_002099	P42357	HUTH_HUMAN			21	2235	-			646					B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Silent	SNP	ENST00000261208.3	37	c.1938G>A	CCDS9058.1																																																																																				0.438	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408644.1				20	61	0	0	0	0.069288	0	20	61		
ASCL1	429	broad.mit.edu	37	12	103352354	103352354	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr12:103352354G>T	ENST00000266744.3	+	1	891	c.332G>T	c.(331-333)aGc>aTc	p.S111I		NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN	achaete-scute family bHLH transcription factor 1	111					adrenal chromaffin cell differentiation (GO:0061104)|carotid body glomus cell differentiation (GO:0061103)|cell maturation (GO:0048469)|cellular response to magnetism (GO:0071259)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|cerebral cortex GABAergic interneuron differentiation (GO:0021892)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|lung epithelial cell differentiation (GO:0060487)|lung neuroendocrine cell differentiation (GO:0061100)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroblast fate determination (GO:0007400)|neuroblast proliferation (GO:0007405)|neurogenesis (GO:0022008)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron fate commitment (GO:0003359)|Notch signaling pathway (GO:0007219)|olfactory pit development (GO:0060166)|oligodendrocyte development (GO:0014003)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epithelial cell differentiation (GO:0030856)|regulation of gene expression (GO:0010468)|regulation of mitotic cell cycle (GO:0007346)|regulation of timing of subpallium neuron differentiation (GO:0060165)|response to epidermal growth factor (GO:0070849)|response to folic acid (GO:0051593)|response to lithium ion (GO:0010226)|response to retinoic acid (GO:0032526)|spinal cord association neuron differentiation (GO:0021527)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|stomach neuroendocrine cell differentiation (GO:0061102)|subpallium neuron fate commitment (GO:0060163)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)|vestibular nucleus development (GO:0021750)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)			NS(3)|large_intestine(1)|lung(1)	5						TTTGGCTACAGCCTGCCGCAG	0.662																																						uc001tjr.3		NaN																	0					0						c.(331-333)AGC>ATC		achaete-scute complex homolog 1							12.0	12.0	12.0					12																	103352354		2107	4131	6238	SO:0001583	missense	429				cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity	g.chr12:103352354G>T	L08424	CCDS31886.1	12q22-q23	2013-10-17	2013-10-17			ENSG00000139352		"""Basic helix-loop-helix proteins"""	738	protein-coding gene	gene with protein product		100790	"""achaete-scute complex (Drosophila) homolog-like 1"", ""achaete-scute complex-like 1 (Drosophila)"", ""achaete-scute complex homolog 1 (Drosophila)"""			8390674	Standard	NM_004316		Approved	ASH1, HASH1, bHLHa46	uc001tjr.4	P50553		ENST00000266744.3:c.332G>T	12.37:g.103352354G>T	ENSP00000266744:p.Ser111Ile						p.S111I	NM_004316	NP_004307	P50553	ASCL1_HUMAN			1	903	+			111					A8K3C4|Q9BQ30	Missense_Mutation	SNP	ENST00000266744.3	37	c.332G>T	CCDS31886.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.270010	0.59540	.	.	ENSG00000139352	ENST00000266744	D	0.98889	-5.21	4.17	4.17	0.49024	Helix-loop-helix DNA-binding (1);	0.061233	0.64402	U	0.000006	D	0.96929	0.8997	L	0.42245	1.32	0.50171	D	0.99985	P	0.45902	0.868	B	0.42062	0.374	D	0.97347	0.9961	10	0.56958	D	0.05	-20.4431	15.6095	0.76704	0.0:0.0:1.0:0.0	.	111	P50553	ASCL1_HUMAN	I	111	ENSP00000266744:S111I	ENSP00000266744:S111I	S	+	2	0	ASCL1	101876484	.	.	1.000000	0.80357	0.994000	0.84299	.	.	2.028000	0.59812	0.462000	0.41574	AGC		0.662	ASCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406707.1				15	9	1	0	7.07596e-05	0.175082	7.16332e-05	15	9		
HSP90B1	7184	broad.mit.edu	37	12	104341191	104341191	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr12:104341191G>A	ENST00000299767.5	+	17	2547	c.2365G>A	c.(2365-2367)Gaa>Aaa	p.E789K	C12orf73_ENST00000543740.2_5'Flank	NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	789					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	aacagatgaagaagaagaaAC	0.423																																						uc001tkb.1		NaN																	0				ovary(2)|skin(1)	3						c.(2365-2367)GAA>AAA		heat shock protein 90kDa beta, member 1	Rifabutin(DB00615)						221.0	225.0	224.0					12																	104341191		2203	4300	6503	SO:0001583	missense	7184				actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding	g.chr12:104341191G>A	AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"""Heat shock proteins / HSPC"""	12028	protein-coding gene	gene with protein product		191175	"""tumor rejection antigen (gp96) 1"""	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.2365G>A	12.37:g.104341191G>A	ENSP00000299767:p.Glu789Lys					HSP90B1_uc010swg.1_Missense_Mutation_p.E454K|HSP90B1_uc009zui.1_Silent_p.K325K	p.E789K	NM_003299	NP_003290	P14625	ENPL_HUMAN			17	2470	+			789					Q96A97	Missense_Mutation	SNP	ENST00000299767.5	37	c.2365G>A	CCDS9094.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121084	0.56613	.	.	ENSG00000166598	ENST00000299767;ENST00000421266	T	0.10192	2.9	4.76	4.76	0.60689	.	1.349760	0.04639	N	0.404996	T	0.10380	0.0254	N	0.14661	0.345	0.42971	D	0.99443	B	0.28760	0.221	B	0.24269	0.052	T	0.18871	-1.0323	10	0.72032	D	0.01	.	15.5492	0.76133	0.0:0.0:1.0:0.0	.	789	P14625	ENPL_HUMAN	K	789;539	ENSP00000299767:E789K	ENSP00000299767:E789K	E	+	1	0	HSP90B1	102865321	0.881000	0.30235	0.880000	0.34516	0.592000	0.36648	3.279000	0.51670	2.576000	0.86940	0.655000	0.94253	GAA		0.423	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1		NM_003299		14	9	0	0	0	0.105934	0	14	9		
ZNF10	7556	broad.mit.edu	37	12	133732691	133732691	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr12:133732691C>T	ENST00000248211.6	+	5	1081	c.859C>T	c.(859-861)Cat>Tat	p.H287Y	ZNF10_ENST00000426665.2_Missense_Mutation_p.H287Y|ZNF268_ENST00000416488.1_Intron|ZNF10_ENST00000402932.2_Missense_Mutation_p.H153Y|CTD-2140B24.4_ENST00000540096.2_Intron	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	287					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TCAGCTTATTCATACTGGAGA	0.418																																						uc009zzb.2		NaN																	0				breast(1)|central_nervous_system(1)|skin(1)	3						c.(859-861)CAT>TAT		zinc finger protein 10							66.0	73.0	71.0					12																	133732691		2203	4299	6502	SO:0001583	missense	7556				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:133732691C>T	X52332, BC024182	CCDS9283.1	12q24.33	2013-01-08	2005-05-22		ENSG00000256223	ENSG00000256223		"""Zinc fingers, C2H2-type"", ""-"""	12879	protein-coding gene	gene with protein product		194538	"""zinc finger protein 10 (KOX 1)"""			7865130, 8262519	Standard	NM_015394		Approved	KOX1	uc001ulq.3	P21506	OTTHUMG00000167944	ENST00000248211.6:c.859C>T	12.37:g.133732691C>T	ENSP00000248211:p.His287Tyr					ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.2_Missense_Mutation_p.H287Y	p.H287Y	NM_015394	NP_056209	P21506	ZNF10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	5	1306	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)	287			C2H2-type 2.		B2RBS1|Q8TC91	Missense_Mutation	SNP	ENST00000248211.6	37	c.859C>T	CCDS9283.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941188	0.73557	.	.	ENSG00000256223	ENST00000248211;ENST00000426665;ENST00000402932	T;T;T	0.67523	-0.27;-0.27;-0.27	3.93	3.93	0.45458	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40640	N	0.001044	D	0.84674	0.5524	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88482	0.3069	9	.	.	.	.	15.2497	0.73536	0.0:1.0:0.0:0.0	.	287	P21506	ZNF10_HUMAN	Y	287;287;153	ENSP00000248211:H287Y;ENSP00000393814:H287Y;ENSP00000384893:H153Y	.	H	+	1	0	ZNF10	132242764	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.302000	0.65733	2.199000	0.70637	0.591000	0.81541	CAT		0.418	ZNF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397182.1		NM_015394		9	55	0	0	0	0.09319	0	9	55		
FREM2	341640	broad.mit.edu	37	13	39438670	39438670	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr13:39438670G>A	ENST00000280481.7	+	16	8126	c.7910G>A	c.(7909-7911)tGg>tAg	p.W2637*		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2637					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GCCTGTTTATGGGAGTTCGTT	0.458																																						uc001uwv.2		NaN																	0				ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(7909-7911)TGG>TAG		FRAS1-related extracellular matrix protein 2							115.0	106.0	109.0					13																	39438670		2203	4300	6503	SO:0001587	stop_gained	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39438670G>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.7910G>A	13.37:g.39438670G>A	ENSP00000280481:p.Trp2637*					FREM2_uc001uww.2_Nonsense_Mutation_p.W723*	p.W2637*	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	16	8219	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2637			Extracellular (Potential).		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Nonsense_Mutation	SNP	ENST00000280481.7	37	c.7910G>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	50	16.955795	0.99876	.	.	ENSG00000150893	ENST00000280481	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.0395	0.92992	0.0:0.0:1.0:0.0	.	.	.	.	X	2637	.	ENSP00000280481:W2637X	W	+	2	0	FREM2	38336670	1.000000	0.71417	0.999000	0.59377	0.865000	0.49528	9.781000	0.99029	2.592000	0.87571	0.650000	0.86243	TGG		0.458	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2		NM_207361		20	27	0	0	0	0.062417	0	20	27		
KBTBD6	89890	broad.mit.edu	37	13	41705613	41705613	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr13:41705613C>A	ENST00000379485.1	-	1	1269	c.1035G>T	c.(1033-1035)atG>atT	p.M345I	KBTBD6_ENST00000499385.2_Missense_Mutation_p.M279I	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	345										NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		AGAAGATCACCATCTCCTTGG	0.527																																						uc001uxu.1		NaN																	0				ovary(1)|skin(1)	2						c.(1033-1035)ATG>ATT		kelch repeat and BTB (POZ) domain-containing 6							81.0	97.0	91.0					13																	41705613		2203	4300	6503	SO:0001583	missense	89890						protein binding	g.chr13:41705613C>A	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1035G>T	13.37:g.41705613C>A	ENSP00000368799:p.Met345Ile					KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Missense_Mutation_p.M279I|uc001uxv.1_5'Flank	p.M345I	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	1324	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	345					Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	c.1035G>T	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	c	19.42	3.823567	0.71143	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.62232	0.04;0.04	3.8	3.8	0.43715	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.74191	0.3684	M	0.69358	2.11	0.47183	D	0.999341	D;D	0.69078	0.997;0.995	D;P	0.78314	0.991;0.85	T	0.71839	-0.4471	10	0.26408	T	0.33	.	13.5205	0.61566	0.0:1.0:0.0:0.0	.	279;345	F5GZN7;Q86V97	.;KBTB6_HUMAN	I	345;279	ENSP00000368799:M345I;ENSP00000444326:M279I	ENSP00000368799:M345I	M	-	3	0	KBTBD6	40603613	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.354000	0.73036	2.132000	0.65825	0.462000	0.41574	ATG		0.527	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1		NM_152903		5	63	1	0	0.000673444	0.069234	0.000677576	5	63		
KBTBD7	84078	broad.mit.edu	37	13	41767359	41767359	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr13:41767359C>A	ENST00000379483.3	-	1	1343	c.1035G>T	c.(1033-1035)atG>atT	p.M345I		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	345										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		AGAAGATCACCATCTCCTTGG	0.507																																						uc001uxw.1		NaN																	0				ovary(1)	1						c.(1033-1035)ATG>ATT		kelch repeat and BTB (POZ) domain containing 7							80.0	47.0	58.0					13																	41767359		2203	4298	6501	SO:0001583	missense	84078						protein binding	g.chr13:41767359C>A	AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.1035G>T	13.37:g.41767359C>A	ENSP00000368797:p.Met345Ile					uc001uxv.1_Intron	p.M345I	NM_032138	NP_115514	Q8WVZ9	KBTB7_HUMAN		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)	1	1344	-		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)	345					B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP	ENST00000379483.3	37	c.1035G>T	CCDS9377.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.536896	0.65085	.	.	ENSG00000120696	ENST00000379483;ENST00000501885	T	0.62232	0.04	4.9	4.9	0.64082	Kelch-type beta propeller (1);	0.000000	0.85682	U	0.000000	T	0.74913	0.3779	M	0.64997	1.995	0.52099	D	0.999946	D	0.63880	0.993	D	0.70227	0.968	T	0.72846	-0.4169	10	0.30854	T	0.27	.	15.5897	0.76517	0.0:1.0:0.0:0.0	.	345	Q8WVZ9	KBTB7_HUMAN	I	345;247	ENSP00000368797:M345I	ENSP00000368797:M345I	M	-	3	0	KBTBD7	40665359	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.675000	0.74493	2.246000	0.74042	0.557000	0.71058	ATG		0.507	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1		NM_032138		11	13	1	0	5.03518e-11	0.189662	5.27649e-11	11	13		
SLC25A30	253512	broad.mit.edu	37	13	45973211	45973211	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr13:45973211G>C	ENST00000539591.1	-	7	627	c.464C>G	c.(463-465)tCa>tGa	p.S155*				Q5SVS4	KMCP1_HUMAN	solute carrier family 25, member 30	206					mitochondrial transport (GO:0006839)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)		GGTGAAGCTTGAGCTATAAAG	0.463																																						uc001vag.2		NaN																	0				breast(1)	1						c.(616-618)TCA>TGA		solute carrier family 25, member 30							69.0	64.0	65.0					13																	45973211		2203	4300	6503	SO:0001587	stop_gained	253512				mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding	g.chr13:45973211G>C	AK074457	CCDS31967.1, CCDS66539.1	13q14	2013-05-22			ENSG00000174032	ENSG00000174032		"""Solute carriers"""	27371	protein-coding gene	gene with protein product		610793					Standard	XM_005266321		Approved		uc001vag.3	Q5SVS4	OTTHUMG00000016853	ENST00000539591.1:c.464C>G	13.37:g.45973211G>C	ENSP00000443542:p.Ser155*					SLC25A30_uc010tfs.1_Nonsense_Mutation_p.S131*|SLC25A30_uc001vah.2_Nonsense_Mutation_p.S131*|SLC25A30_uc010tft.1_Nonsense_Mutation_p.S155*|SLC25A30_uc001vaf.2_Nonsense_Mutation_p.S62*	p.S206*	NM_001010875	NP_001010875	Q5SVS4	KMCP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)	8	754	-		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	206			Helical; Name=5; (Potential).|Solcar 3.		B2RN96|B4DZK3|F5H8H8	Nonsense_Mutation	SNP	ENST00000539591.1	37	c.617C>G		.	.	.	.	.	.	.	.	.	.	G	38	6.888785	0.97912	.	.	ENSG00000174032	ENST00000519676;ENST00000536510;ENST00000539591	.	.	.	5.21	5.21	0.72293	.	0.118659	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	0.0012	18.0858	0.89457	0.0:0.0:1.0:0.0	.	.	.	.	X	206;131;155	.	ENSP00000429168:S206X	S	-	2	0	SLC25A30	44871211	1.000000	0.71417	0.695000	0.30226	0.657000	0.38888	9.126000	0.94411	2.572000	0.86782	0.650000	0.86243	TCA		0.463	SLC25A30-201	KNOWN	basic	protein_coding	protein_coding			XM_170736		7	34	0	0	0	0.047766	0	7	34		
ESD	2098	broad.mit.edu	37	13	47365491	47365491	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr13:47365491C>T	ENST00000378720.3	-	3	240	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K	ESD_ENST00000495654.1_5'UTR|ESD_ENST00000378697.1_5'UTR	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN	esterase D	20					formaldehyde catabolic process (GO:0046294)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carboxylic ester hydrolase activity (GO:0052689)|hydrolase activity, acting on ester bonds (GO:0016788)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)|S-formylglutathione hydrolase activity (GO:0018738)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	CTGTCATGTTCAAAAACTTTC	0.303																																						uc001vbn.2		NaN																	0				ovary(1)	1						c.(58-60)GAA>AAA		esterase D/formylglutathione hydrolase	Glutathione(DB00143)						81.0	83.0	82.0					13																	47365491		2203	4300	6503	SO:0001583	missense	2098					cytoplasmic membrane-bounded vesicle	carboxylesterase activity|S-formylglutathione hydrolase activity	g.chr13:47365491C>T	M13450	CCDS9404.1	13q14.1-q14.2	2014-05-13	2010-05-07		ENSG00000139684	ENSG00000139684	3.1.2.12		3465	protein-coding gene	gene with protein product	"""S-formylglutathione hydrolase"""	133280	"""esterase D/formylglutathione hydrolase"""				Standard	NM_001984		Approved		uc001vbn.3	P10768	OTTHUMG00000016878	ENST00000378720.3:c.58G>A	13.37:g.47365491C>T	ENSP00000367992:p.Glu20Lys					ESD_uc001vbo.2_Missense_Mutation_p.E20K	p.E20K	NM_001984	NP_001975	P10768	ESTD_HUMAN		GBM - Glioblastoma multiforme(144;2.66e-05)	3	241	-		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	20					Q5TBU8|Q5TBV0|Q5TBV2|Q9BVJ2	Missense_Mutation	SNP	ENST00000378720.3	37	c.58G>A	CCDS9404.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.036942	0.54896	.	.	ENSG00000139684	ENST00000378720	T	0.30714	1.52	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.20292	0.0488	N	0.17312	0.475	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.09207	-1.0685	10	0.07030	T	0.85	-15.1753	19.047	0.93025	0.0:1.0:0.0:0.0	.	20	P10768	ESTD_HUMAN	K	20	ENSP00000367992:E20K	ENSP00000367992:E20K	E	-	1	0	ESD	46263492	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.812000	0.69194	2.732000	0.93576	0.650000	0.86243	GAA		0.303	ESD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044826.1				13	12	0	0	0	0.189662	0	13	12		
FNDC3A	22862	broad.mit.edu	37	13	49762735	49762735	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr13:49762735G>A	ENST00000492622.2	+	17	2215	c.1910G>A	c.(1909-1911)cGa>cAa	p.R637Q	FNDC3A_ENST00000398316.3_Missense_Mutation_p.R581Q|FNDC3A_ENST00000541916.1_Missense_Mutation_p.R637Q	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	637	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TATCGTTTACGAGTTTACTGC	0.413																																						uc001vcm.2		NaN																	0				lung(2)	2						c.(1909-1911)CGA>CAA		fibronectin type III domain containing 3A							337.0	303.0	314.0					13																	49762735		2203	4300	6503	SO:0001583	missense	22862					Golgi membrane|integral to membrane		g.chr13:49762735G>A	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.1910G>A	13.37:g.49762735G>A	ENSP00000417257:p.Arg637Gln					FNDC3A_uc001vcn.2_Missense_Mutation_p.R637Q|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcp.1_Missense_Mutation_p.R563Q|FNDC3A_uc001vcq.2_Missense_Mutation_p.R581Q	p.R637Q	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	17	2215	+		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	637			Fibronectin type-III 4.		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	ENST00000492622.2	37	c.1910G>A	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467539	0.84533	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.59772	0.24;0.24;0.24	5.72	4.88	0.63580	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.111816	0.41396	D	0.000899	T	0.70369	0.3216	M	0.86502	2.82	0.80722	D	1	D;D;D	0.64830	0.984;0.984;0.994	P;P;P	0.54210	0.703;0.703;0.745	T	0.73151	-0.4073	10	0.41790	T	0.15	-19.2594	10.0284	0.42085	0.1528:0.0:0.8472:0.0	.	581;637;637	Q9Y2H6-2;G5E9X3;Q9Y2H6	.;.;FND3A_HUMAN	Q	637;573;637;581	ENSP00000417257:R637Q;ENSP00000441831:R637Q;ENSP00000381362:R581Q	ENSP00000338579:R573Q	R	+	2	0	FNDC3A	48660736	1.000000	0.71417	0.998000	0.56505	0.773000	0.43773	5.113000	0.64640	1.426000	0.47256	-0.229000	0.12294	CGA		0.413	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2		NM_014923		24	157	0	0	0	0.134883	0	24	157		
EDNRB	1910	broad.mit.edu	37	13	78477333	78477333	+	Silent	SNP	T	T	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr13:78477333T>C	ENST00000334286.5	-	3	995	c.759A>G	c.(757-759)cgA>cgG	p.R253R	EDNRB_ENST00000377211.4_Silent_p.R343R|EDNRB_ENST00000446573.1_Silent_p.R253R	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	253					aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	GCAAGCAGATTCGCAGATAAC	0.373																																						uc001vko.2		NaN																	0					0						c.(757-759)CGA>CGG		endothelin receptor type B isoform 1 precursor	Bosentan(DB00559)						148.0	148.0	148.0					13																	78477333		2203	4300	6503	SO:0001819	synonymous_variant	1910				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	g.chr13:78477333T>C	L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"""GPCR / Class A : Endothelin receptors"""	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.759A>G	13.37:g.78477333T>C						EDNRB_uc001vkq.1_Silent_p.R253R|uc001vkn.1_Intron|EDNRB_uc010aez.1_Silent_p.R253R|EDNRB_uc001vkp.1_Silent_p.R336R	p.R253R	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN		GBM - Glioblastoma multiforme(99;0.0933)	3	1017	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)	253			Extracellular (Potential).		A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Silent	SNP	ENST00000334286.5	37	c.759A>G	CCDS9461.1																																																																																				0.373	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1				23	34	0	0	0	0.163468	0	23	34		
OR4E2	26686	broad.mit.edu	37	14	22134223	22134223	+	Silent	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr14:22134223G>A	ENST00000408935.1	+	1	927	c.927G>A	c.(925-927)acG>acA	p.T309T		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T309T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TTTTTTTCACGAAATCATATA	0.393																																						uc010tmd.1		NaN																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(925-927)ACG>ACA		olfactory receptor, family 4, subfamily E,							32.0	29.0	30.0					14																	22134223		1917	4141	6058	SO:0001819	synonymous_variant	26686				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22134223G>A		CCDS41916.1	14q11.2	2013-09-23			ENSG00000221977	ENSG00000221977		"""GPCR / Class A : Olfactory receptors"""	8297	protein-coding gene	gene with protein product							Standard	NM_001001912		Approved		uc010tmd.2	Q8NGC2	OTTHUMG00000168979	ENST00000408935.1:c.927G>A	14.37:g.22134223G>A							p.T309T	NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN		GBM - Glioblastoma multiforme(265;0.0137)	1	927	+	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	309			Cytoplasmic (Potential).		Q6IET6|Q96R62	Silent	SNP	ENST00000408935.1	37	c.927G>A	CCDS41916.1																																																																																				0.393	OR4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401874.1				4	11	0	0	0	0.150653	0	4	11		
SCFD1	23256	broad.mit.edu	37	14	31169416	31169416	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr14:31169416G>C	ENST00000458591.2	+	16	1589	c.1362G>C	c.(1360-1362)atG>atC	p.M454I	SCFD1_ENST00000421551.3_Missense_Mutation_p.M395I|SCFD1_ENST00000554486.1_3'UTR|SCFD1_ENST00000541123.1_Missense_Mutation_p.M269I|SCFD1_ENST00000396629.2_Missense_Mutation_p.M362I|SCFD1_ENST00000544052.2_Missense_Mutation_p.M387I	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	454					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle docking involved in exocytosis (GO:0006904)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi transport complex (GO:0017119)|Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)	syntaxin binding (GO:0019905)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		AAGATAAAATGAGGTTGTTTC	0.348																																						uc001wqm.1		NaN																	0					0						c.(1360-1362)ATG>ATC		vesicle transport-related protein isoform a							128.0	129.0	128.0					14																	31169416		2203	4300	6503	SO:0001583	missense	23256				post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding	g.chr14:31169416G>C	AF110646	CCDS9639.1, CCDS45092.1, CCDS58308.1	14q12	2006-04-04	2004-01-15	2004-01-16	ENSG00000092108	ENSG00000092108			20726	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 163"""	C14orf163			Standard	NM_016106		Approved	RA410, KIAA0917, STXBP1L2, SLY1	uc001wqm.2	Q8WVM8	OTTHUMG00000029420	ENST00000458591.2:c.1362G>C	14.37:g.31169416G>C	ENSP00000390783:p.Met454Ile					SCFD1_uc001wqn.1_Missense_Mutation_p.M387I|SCFD1_uc010tpg.1_Missense_Mutation_p.M395I|SCFD1_uc010tph.1_Missense_Mutation_p.M269I|SCFD1_uc010amf.1_Missense_Mutation_p.M269I|SCFD1_uc010tpi.1_Missense_Mutation_p.M362I|SCFD1_uc010amd.1_Missense_Mutation_p.M286I|SCFD1_uc010ame.1_Missense_Mutation_p.M387I	p.M454I	NM_016106	NP_057190	Q8WVM8	SCFD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)	16	1386	+	Hepatocellular(127;0.0877)		454					A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	Missense_Mutation	SNP	ENST00000458591.2	37	c.1362G>C	CCDS9639.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.390609	0.62066	.	.	ENSG00000092108	ENST00000458591;ENST00000544052;ENST00000421551;ENST00000541123;ENST00000396629	T;T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92;-0.92	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.66858	0.2832	N	0.25485	0.75	0.58432	D	0.999999	B;B;B;B	0.20261	0.009;0.043;0.015;0.024	B;B;B;B	0.23150	0.017;0.044;0.017;0.044	T	0.61946	-0.6958	10	0.49607	T	0.09	-1.3674	19.3245	0.94256	0.0:0.0:1.0:0.0	.	395;387;362;454	B7Z738;B7Z4U7;B7Z594;Q8WVM8	.;.;.;SCFD1_HUMAN	I	454;387;395;269;362	ENSP00000390783:M454I;ENSP00000443010:M387I;ENSP00000388078:M395I;ENSP00000443537:M269I;ENSP00000379870:M362I	ENSP00000309417:M462I	M	+	3	0	SCFD1	30239167	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.930000	0.87610	2.738000	0.93877	0.591000	0.81541	ATG		0.348	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276612.3		NM_182835		20	37	0	0	0	0.099896	0	20	37		
PTGER2	5732	broad.mit.edu	37	14	52781491	52781491	+	Silent	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr14:52781491G>A	ENST00000245457.5	+	1	379	c.225G>A	c.(223-225)gtG>gtA	p.V75V	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	75					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular response to prostaglandin E stimulus (GO:0071380)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)|response to lipopolysaccharide (GO:0032496)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Dinoprostone(DB00917)|Misoprostol(DB00929)	CCGAGCTGGTGTTCACCGACC	0.711																																						uc001wzr.2		NaN																	0				lung(1)|breast(1)	2						c.(223-225)GTG>GTA		prostaglandin E receptor 2 (subtype EP2), 53kDa	Alprostadil(DB00770)|Iloprost(DB01088)						29.0	31.0	31.0					14																	52781491		2196	4285	6481	SO:0001819	synonymous_variant	5732					integral to plasma membrane	prostaglandin E receptor activity	g.chr14:52781491G>A		CCDS9708.1	14q22	2012-08-08	2002-08-29		ENSG00000125384	ENSG00000125384		"""GPCR / Class A : Prostanoid receptors"""	9594	protein-coding gene	gene with protein product		176804	"""prostaglandin E receptor 2 (subtype EP2), 53kD"""			8250933, 7759114	Standard	NM_000956		Approved	EP2	uc001wzr.3	P43116	OTTHUMG00000140300	ENST00000245457.5:c.225G>A	14.37:g.52781491G>A							p.V75V	NM_000956	NP_000947	P43116	PE2R2_HUMAN			1	476	+	Breast(41;0.0639)|all_epithelial(31;0.0729)		75			Helical; Name=2; (Potential).		D3DSC0|Q52LG8	Silent	SNP	ENST00000245457.5	37	c.225G>A	CCDS9708.1																																																																																				0.711	PTGER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276890.1				18	60	0	0	0	0.062417	0	18	60		
SPTB	6710	broad.mit.edu	37	14	65260362	65260362	+	Silent	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr14:65260362G>C	ENST00000389721.5	-	13	2051	c.2019C>G	c.(2017-2019)ctC>ctG	p.L673L	SPTB_ENST00000556626.1_Silent_p.L673L|SPTB_ENST00000542895.1_Silent_p.L673L|SPTB_ENST00000389722.3_Silent_p.L673L|SPTB_ENST00000389720.3_Silent_p.L673L	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	673					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCTGTAAGATGAGCACACTGG	0.547																																						uc001xht.2		NaN																	0				ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11						c.(2017-2019)CTC>CTG		spectrin beta isoform b							117.0	84.0	95.0					14																	65260362		2203	4300	6503	SO:0001819	synonymous_variant	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65260362G>C		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.2019C>G	14.37:g.65260362G>C						SPTB_uc001xhr.2_Silent_p.L673L|SPTB_uc001xhs.2_Silent_p.L673L|SPTB_uc001xhu.2_Silent_p.L673L	p.L673L	NM_000347	NP_000338	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	13	2073	-		all_lung(585;4.15e-09)	673			Spectrin 4.		Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	c.2019C>G	CCDS32100.1																																																																																				0.547	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1				11	22	0	0	0	0.080935	0	11	22		
SAMD15	161394	broad.mit.edu	37	14	77843846	77843846	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr14:77843846C>T	ENST00000216471.4	+	1	371	c.85C>T	c.(85-87)Cat>Tat	p.H29Y	TMED8_ENST00000216468.7_5'Flank|SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	29										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCCTGGACTTCATAAATTGTA	0.517																																						uc001xtq.1		NaN																	0					0						c.(85-87)CAT>TAT		hypothetical protein LOC161394							58.0	65.0	63.0					14																	77843846		2203	4300	6503	SO:0001583	missense	161394							g.chr14:77843846C>T	AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"""Sterile alpha motif (SAM) domain containing"""	18631	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member A"", ""chromosome 14 open reading frame 174"""	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.85C>T	14.37:g.77843846C>T	ENSP00000216471:p.His29Tyr					TMED8_uc010ast.1_5'Flank|TMED8_uc001xto.1_5'Flank	p.H29Y	NM_001010860	NP_001010860	Q9P1V8	SAM15_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0278)	1	85	+			29					Q2M3P3	Missense_Mutation	SNP	ENST00000216471.4	37	c.85C>T	CCDS32126.1	.	.	.	.	.	.	.	.	.	.	C	0.918	-0.716880	0.03206	.	.	ENSG00000100583	ENST00000216471	T	0.18810	2.19	5.43	-1.67	0.08238	.	2.188250	0.02583	N	0.099089	T	0.12689	0.0308	N	0.14661	0.345	0.09310	N	1	B	0.15719	0.014	B	0.16722	0.016	T	0.29579	-1.0007	10	0.52906	T	0.07	0.7016	4.2053	0.10486	0.4617:0.2406:0.2264:0.0712	.	29	Q9P1V8	SAM15_HUMAN	Y	29	ENSP00000216471:H29Y	ENSP00000216471:H29Y	H	+	1	0	SAMD15	76913599	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.106000	0.15354	-0.283000	0.09115	-0.232000	0.12228	CAT		0.517	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2		NM_001010860		15	21	0	0	0	0.146539	0	15	21		
FLRT2	23768	broad.mit.edu	37	14	86087957	86087957	+	Silent	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr14:86087957C>G	ENST00000330753.4	+	2	866	c.99C>G	c.(97-99)ctC>ctG	p.L33L	FLRT2_ENST00000554746.1_Silent_p.L33L	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	33					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TGTCCAAACTCCTGGCCTGCC	0.547																																						uc001xvr.2		NaN																	0				ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4						c.(97-99)CTC>CTG		fibronectin leucine rich transmembrane protein 2							104.0	100.0	101.0					14																	86087957		2203	4300	6503	SO:0001819	synonymous_variant	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86087957C>G	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.99C>G	14.37:g.86087957C>G						FLRT2_uc010atd.2_Silent_p.L33L	p.L33L	NM_013231	NP_037363	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	866	+			33					A0AV84|B7ZLP3	Silent	SNP	ENST00000330753.4	37	c.99C>G	CCDS9877.1																																																																																				0.547	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1				53	50	0	0	0	0.139131	0	53	50		
FLRT2	23768	broad.mit.edu	37	14	86088062	86088062	+	Silent	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr14:86088062C>G	ENST00000330753.4	+	2	971	c.204C>G	c.(202-204)ctC>ctG	p.L68L	FLRT2_ENST00000554746.1_Silent_p.L68L	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	68					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TAACTGTACTCTACCTCCACA	0.517																																						uc001xvr.2		NaN																	0				ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4						c.(202-204)CTC>CTG		fibronectin leucine rich transmembrane protein 2							138.0	123.0	128.0					14																	86088062		2203	4300	6503	SO:0001819	synonymous_variant	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86088062C>G	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.204C>G	14.37:g.86088062C>G						FLRT2_uc010atd.2_Silent_p.L68L	p.L68L	NM_013231	NP_037363	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	971	+			68			Extracellular (Potential).|LRR 1.		A0AV84|B7ZLP3	Silent	SNP	ENST00000330753.4	37	c.204C>G	CCDS9877.1																																																																																				0.517	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1				66	49	0	0	0	0.139131	0	66	49		
FLRT2	23768	broad.mit.edu	37	14	86088862	86088862	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr14:86088862G>T	ENST00000330753.4	+	2	1771	c.1004G>T	c.(1003-1005)cGg>cTg	p.R335L	FLRT2_ENST00000554746.1_Missense_Mutation_p.R335L	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	335	LRRCT.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CTCAACGTGCGGGGTTTCATG	0.507																																						uc001xvr.2		NaN																	0				ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4						c.(1003-1005)CGG>CTG		fibronectin leucine rich transmembrane protein 2							131.0	141.0	137.0					14																	86088862		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86088862G>T	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1004G>T	14.37:g.86088862G>T	ENSP00000332879:p.Arg335Leu					FLRT2_uc010atd.2_Missense_Mutation_p.R335L	p.R335L	NM_013231	NP_037363	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	1771	+			335			Extracellular (Potential).|LRRCT.		A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.1004G>T	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.805434	0.70682	.	.	ENSG00000185070	ENST00000330753;ENST00000554746	T;T	0.58210	0.35;0.35	5.97	5.97	0.96955	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.62109	0.2401	L	0.45744	1.44	0.80722	D	1	D	0.60575	0.988	P	0.55923	0.787	T	0.51934	-0.8642	10	0.22706	T	0.39	-14.9447	20.4238	0.99064	0.0:0.0:1.0:0.0	.	335	O43155	FLRT2_HUMAN	L	335	ENSP00000332879:R335L;ENSP00000451050:R335L	ENSP00000332879:R335L	R	+	2	0	FLRT2	85158615	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.061000	0.89467	2.828000	0.97474	0.655000	0.94253	CGG		0.507	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1				87	93	1	0	4.44732e-65	0.139131	4.78269e-65	87	93		
KCNK13	56659	broad.mit.edu	37	14	90650720	90650720	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr14:90650720C>G	ENST00000282146.4	+	2	1041	c.600C>G	c.(598-600)atC>atG	p.I200M		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	200					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TCATGCTGATCCTATGCACAG	0.592																																						uc001xye.1		NaN																	0				skin(1)	1						c.(598-600)ATC>ATG		potassium channel, subfamily K, member 13							161.0	135.0	144.0					14																	90650720		2203	4300	6503	SO:0001583	missense	56659					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:90650720C>G	AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.600C>G	14.37:g.90650720C>G	ENSP00000282146:p.Ile200Met						p.I200M	NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN			2	1042	+		all_cancers(154;0.186)	200			Helical; (Potential).		B5TJL8|Q96E79	Missense_Mutation	SNP	ENST00000282146.4	37	c.600C>G	CCDS9889.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.604771	0.28623	.	.	ENSG00000152315	ENST00000282146	T	0.32023	1.47	5.31	2.48	0.30137	Ion transport 2 (1);	0.205370	0.25164	N	0.032652	T	0.51517	0.1679	M	0.87682	2.9	0.58432	D	0.999997	D	0.89917	1.0	D	0.80764	0.994	T	0.47623	-0.9103	10	0.62326	D	0.03	.	2.1724	0.03853	0.1359:0.4974:0.1322:0.2344	.	200	Q9HB14	KCNKD_HUMAN	M	200	ENSP00000282146:I200M	ENSP00000282146:I200M	I	+	3	3	KCNK13	89720473	0.963000	0.33076	0.997000	0.53966	0.204000	0.24138	0.149000	0.16243	0.232000	0.21100	-0.140000	0.14226	ATC		0.592	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1		NM_022054		32	162	0	0	0	0.09836	0	32	162		
KCNK13	56659	broad.mit.edu	37	14	90650738	90650738	+	Silent	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr14:90650738C>T	ENST00000282146.4	+	2	1059	c.618C>T	c.(616-618)atC>atT	p.I206I		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	206					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				CAGCCTCCATCCTCATCTCTT	0.562																																						uc001xye.1		NaN																	0				skin(1)	1						c.(616-618)ATC>ATT		potassium channel, subfamily K, member 13							170.0	142.0	151.0					14																	90650738		2203	4300	6503	SO:0001819	synonymous_variant	56659					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:90650738C>T	AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.618C>T	14.37:g.90650738C>T							p.I206I	NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN			2	1060	+		all_cancers(154;0.186)	206			Helical; (Potential).		B5TJL8|Q96E79	Silent	SNP	ENST00000282146.4	37	c.618C>T	CCDS9889.1																																																																																				0.562	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1		NM_022054		34	162	0	0	0	0.124865	0	34	162		
KCNK13	56659	broad.mit.edu	37	14	90650948	90650948	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr14:90650948C>G	ENST00000282146.4	+	2	1269	c.828C>G	c.(826-828)ttC>ttG	p.F276L		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	276					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				ACTCCTTGTTCAATGTCATCT	0.522																																						uc001xye.1		NaN																	0				skin(1)	1						c.(826-828)TTC>TTG		potassium channel, subfamily K, member 13							98.0	95.0	96.0					14																	90650948		2203	4300	6503	SO:0001583	missense	56659					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:90650948C>G	AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.828C>G	14.37:g.90650948C>G	ENSP00000282146:p.Phe276Leu						p.F276L	NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN			2	1270	+		all_cancers(154;0.186)	276			Helical; (Potential).		B5TJL8|Q96E79	Missense_Mutation	SNP	ENST00000282146.4	37	c.828C>G	CCDS9889.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.125751	0.56721	.	.	ENSG00000152315	ENST00000282146	T	0.24908	1.83	5.42	3.6	0.41247	Ion transport 2 (1);	0.000000	0.42964	D	0.000622	T	0.16938	0.0407	L	0.35723	1.085	0.80722	D	1	P	0.40282	0.711	B	0.42214	0.38	T	0.13710	-1.0499	10	0.02654	T	1	.	6.8452	0.23984	0.0:0.6062:0.0:0.3938	.	276	Q9HB14	KCNKD_HUMAN	L	276	ENSP00000282146:F276L	ENSP00000282146:F276L	F	+	3	2	KCNK13	89720701	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	2.028000	0.41088	0.655000	0.30866	0.655000	0.94253	TTC		0.522	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1		NM_022054		23	78	0	0	0	0.153744	0	23	78		
KCNK13	56659	broad.mit.edu	37	14	90650969	90650969	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr14:90650969C>G	ENST00000282146.4	+	2	1290	c.849C>G	c.(847-849)atC>atG	p.I283M		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	283					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				CTATCCTCATCAAACAGTCCT	0.517																																						uc001xye.1		NaN																	0				skin(1)	1						c.(847-849)ATC>ATG		potassium channel, subfamily K, member 13							87.0	89.0	88.0					14																	90650969		2203	4300	6503	SO:0001583	missense	56659					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:90650969C>G	AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.849C>G	14.37:g.90650969C>G	ENSP00000282146:p.Ile283Met						p.I283M	NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN			2	1291	+		all_cancers(154;0.186)	283			Helical; (Potential).		B5TJL8|Q96E79	Missense_Mutation	SNP	ENST00000282146.4	37	c.849C>G	CCDS9889.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.353387	0.61293	.	.	ENSG00000152315	ENST00000282146	T	0.41400	1.0	5.42	4.53	0.55603	Ion transport 2 (1);	0.000000	0.39985	N	0.001211	T	0.58061	0.2096	M	0.64997	1.995	0.80722	D	1	D	0.65815	0.995	D	0.72075	0.976	T	0.57294	-0.7836	10	0.44086	T	0.13	.	10.7012	0.45928	0.0:0.8519:0.0:0.1481	.	283	Q9HB14	KCNKD_HUMAN	M	283	ENSP00000282146:I283M	ENSP00000282146:I283M	I	+	3	3	KCNK13	89720722	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.627000	0.46469	1.272000	0.44329	0.655000	0.94253	ATC		0.517	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1		NM_022054		26	94	0	0	0	0.173368	0	26	94		
GOLGA5	9950	broad.mit.edu	37	14	93299516	93299516	+	Missense_Mutation	SNP	G	G	A	rs375552804		TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr14:93299516G>A	ENST00000163416.2	+	10	2025	c.1769G>A	c.(1768-1770)cGa>cAa	p.R590Q	GOLGA5_ENST00000355976.2_Missense_Mutation_p.R590Q	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	590					Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		TTAGAAAATCGACTCCATCAG	0.403			T	RET	papillary thyroid																																	uc001yaz.1		NaN		Dom	yes		14	14q	9950	T	"""golgi autoantigen, golgin subfamily a, 5  (PTC5)"""			E	RET		papillary thyroid		0				ovary(2)|lung(1)	3						c.(1768-1770)CGA>CAA		Golgi autoantigen, golgin subfamily a, 5		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	95.0	96.0	96.0		1769	5.7	0.1	14		96	0,8600		0,0,4300	no	missense	GOLGA5	NM_005113.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	590/732	93299516	1,13005	2203	4300	6503	SO:0001583	missense	9950				Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding	g.chr14:93299516G>A	AF085199	CCDS9905.1	14q32.12	2012-05-04	2010-02-12		ENSG00000066455	ENSG00000066455			4428	protein-coding gene	gene with protein product	"""golgi integral membrane protein 5"""	606918	"""golgi autoantigen, golgin subfamily a, 5"""			2734021, 9443391, 15004235	Standard	NM_005113		Approved	ret-II, golgin-84, rfg5, GOLIM5	uc001yaz.1	Q8TBA6	OTTHUMG00000171217	ENST00000163416.2:c.1769G>A	14.37:g.93299516G>A	ENSP00000163416:p.Arg590Gln					GOLGA5_uc001yba.1_5'UTR	p.R590Q	NM_005113	NP_005104	Q8TBA6	GOGA5_HUMAN		COAD - Colon adenocarcinoma(157;0.222)	10	1951	+		all_cancers(154;0.0934)	590			Cytoplasmic (Potential).|Potential.		C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Missense_Mutation	SNP	ENST00000163416.2	37	c.1769G>A	CCDS9905.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	30|30	5.056882|5.056882	0.93846|0.93846	2.27E-4|2.27E-4	0.0|0.0	ENSG00000066455|ENSG00000066455	ENST00000554700|ENST00000163416;ENST00000355976;ENST00000439315	.|T;T	.|0.55234	.|0.53;0.53	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|0.000000	.|0.40640	.|N	.|0.001051	T|T	0.77239|0.77239	0.4101|0.4101	M|M	0.84773|0.84773	2.715|2.715	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.79105|0.79105	-0.1940|-0.1940	5|10	.|0.56958	.|D	.|0.05	-12.9088|-12.9088	19.7525|19.7525	0.96273|0.96273	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|590	.|Q8TBA6	.|GOGA5_HUMAN	N|Q	16|590;590;499	.|ENSP00000163416:R590Q;ENSP00000348252:R590Q	.|ENSP00000163416:R590Q	D|R	+|+	1|2	0|0	GOLGA5|GOLGA5	92369269|92369269	1.000000|1.000000	0.71417|0.71417	0.055000|0.055000	0.19348|0.19348	0.727000|0.727000	0.41649|0.41649	7.914000|7.914000	0.87478|0.87478	2.669000|2.669000	0.90835|0.90835	0.591000|0.591000	0.81541|0.81541	GAC|CGA		0.403	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412365.1				12	38	0	0	0	0.146539	0	12	38		
SLC25A29	123096	broad.mit.edu	37	14	100758860	100758860	+	Silent	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr14:100758860G>A	ENST00000359232.3	-	4	972	c.672C>T	c.(670-672)ggC>ggT	p.G224G	SLC25A29_ENST00000555927.1_Silent_p.G158G|SLC25A29_ENST00000554912.1_Silent_p.G158G|SLC25A29_ENST00000392908.3_3'UTR|SLC25A29_ENST00000556505.1_Silent_p.G158G|RP11-638I2.6_ENST00000556458.1_lincRNA|SLC25A29_ENST00000539621.1_Silent_p.G158G|AL157871.2_ENST00000553954.1_RNA	NM_001039355.1	NP_001034444.1	Q8N8R3	MCATL_HUMAN	solute carrier family 25 (mitochondrial carnitine/acylcarnitine carrier), member 29	224						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	acyl carnitine transmembrane transporter activity (GO:0015227)			NS(1)|endometrium(1)|ovary(1)	3		Melanoma(154;0.152)			L-Carnitine(DB00583)	AGCGCGGGGCGCCCCGCAGTC	0.706																																						uc001yha.2		NaN																	0				ovary(1)	1						c.(670-672)GGC>GGT		solute carrier family 25, member 29	L-Carnitine(DB00583)						19.0	15.0	16.0					14																	100758860		2159	4225	6384	SO:0001819	synonymous_variant	123096					integral to membrane|mitochondrial inner membrane	binding	g.chr14:100758860G>A	AK095532	CCDS32156.1	14q32.2	2013-05-22	2012-03-29	2004-01-21	ENSG00000197119	ENSG00000197119		"""Solute carriers"""	20116	protein-coding gene	gene with protein product		615064	"""chromosome 14 open reading frame 69"", ""solute carrier family 25, member 29"""	C14orf69			Standard	XM_005267343		Approved	FLJ38975	uc010twx.2	Q8N8R3	OTTHUMG00000171569	ENST00000359232.3:c.672C>T	14.37:g.100758860G>A						SLC25A29_uc010avv.2_Silent_p.G158G|SLC25A29_uc010twx.1_Missense_Mutation_p.A202V	p.G224G	NM_001039355	NP_001034444	Q8N8R3	MCATL_HUMAN			4	963	-		Melanoma(154;0.152)	224			Solcar 3.		A3KMR5|Q541V0	Silent	SNP	ENST00000359232.3	37	c.672C>T	CCDS32156.1																																																																																				0.706	SLC25A29-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072449.3				7	19	0	0	0	0.047766	0	7	19		
CYFIP1	23191	broad.mit.edu	37	15	22955190	22955190	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr15:22955190C>A	ENST00000313077.7	+	15	1709	c.1584C>A	c.(1582-1584)ttC>ttA	p.F528L	CYFIP1_ENST00000560848.1_Missense_Mutation_p.F528L|CYFIP1_ENST00000435939.2_5'Flank	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		ATGAGCCCTTCAATGACCCAG	0.622																																						uc001yus.2		NaN																	0				ovary(4)|pancreas(3)|liver(1)|skin(1)	9						c.(1582-1584)TTC>TTA		cytoplasmic FMR1 interacting protein 1 isoform							74.0	71.0	72.0					15																	22955190		2203	4300	6503	SO:0001583	missense	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:22955190C>A	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.1584C>A	15.37:g.22955190C>A	ENSP00000324549:p.Phe528Leu					CYFIP1_uc001yut.2_Missense_Mutation_p.F528L|CYFIP1_uc010aya.1_Missense_Mutation_p.F556L|CYFIP1_uc001yuu.2_5'Flank	p.F528L	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	15	1688	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	528						Missense_Mutation	SNP	ENST00000313077.7	37	c.1584C>A	CCDS10009.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.548416	0.27652	.	.	ENSG00000068793	ENST00000313077;ENST00000412127	T	0.65732	-0.17	5.1	4.17	0.49024	.	0.000000	0.64402	D	0.000002	T	0.30262	0.0759	N	0.01352	-0.895	0.80722	D	1	B;B	0.24317	0.101;0.002	B;B	0.25506	0.061;0.027	T	0.19224	-1.0312	10	0.07990	T	0.79	-28.7812	12.5873	0.56424	0.0:0.9191:0.0:0.0809	.	556;528	E7EQ04;Q7L576	.;CYFP1_HUMAN	L	528;556	ENSP00000324549:F528L	ENSP00000324549:F528L	F	+	3	2	CYFIP1	20506631	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	2.385000	0.44371	1.120000	0.41904	0.561000	0.74099	TTC		0.622	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2		NM_014608		33	49	1	0	4.44401e-20	0.117977	4.748e-20	33	49		
RYR3	6263	broad.mit.edu	37	15	33928729	33928729	+	Silent	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr15:33928729C>T	ENST00000389232.4	+	27	3604	c.3534C>T	c.(3532-3534)ttC>ttT	p.F1178F	RYR3_ENST00000415757.3_Silent_p.F1178F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1178	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.F1178F(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AACTTGCCTTCGCTGACTACG	0.493																																						uc001zhi.2		NaN																	1	Substitution - coding silent(1)		breast(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(3532-3534)TTC>TTT		ryanodine receptor 3							144.0	145.0	145.0					15																	33928729		2135	4253	6388	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33928729C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.3534C>T	15.37:g.33928729C>T						RYR3_uc010bar.2_Silent_p.F1178F	p.F1178F	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	27	3604	+		all_lung(180;7.18e-09)	1178			B30.2/SPRY 2.|Cytoplasmic (By similarity).|4 X approximate repeats.		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.3534C>T	CCDS45210.1																																																																																				0.493	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1				11	54	0	0	0	0.09319	0	11	54		
RYR3	6263	broad.mit.edu	37	15	33936718	33936718	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr15:33936718G>C	ENST00000389232.4	+	28	3833	c.3763G>C	c.(3763-3765)Gag>Cag	p.E1255Q	RYR3_ENST00000415757.3_Missense_Mutation_p.E1255Q	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1255	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCCACACATAGAGGTAATGTT	0.512																																						uc001zhi.2		NaN																	0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(3763-3765)GAG>CAG		ryanodine receptor 3							60.0	59.0	59.0					15																	33936718		2005	4161	6166	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33936718G>C		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.3763G>C	15.37:g.33936718G>C	ENSP00000373884:p.Glu1255Gln					RYR3_uc010bar.2_Missense_Mutation_p.E1255Q	p.E1255Q	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	28	3833	+		all_lung(180;7.18e-09)	1255			4 X approximate repeats.|B30.2/SPRY 3.|Cytoplasmic (By similarity).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.3763G>C	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.378504	0.42207	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.96774	-4.12;-4.12	4.82	4.82	0.62117	B30.2/SPRY domain (1);	0.063920	0.64402	D	0.000009	D	0.95169	0.8434	L	0.54323	1.7	0.48901	D	0.999728	P;P	0.50272	0.933;0.791	P;B	0.47251	0.542;0.196	D	0.94026	0.7297	10	0.37606	T	0.19	.	13.8011	0.63202	0.0765:0.0:0.9235:0.0	.	1255;1255	Q15413-2;Q15413	.;RYR3_HUMAN	Q	1255	ENSP00000373884:E1255Q;ENSP00000399610:E1255Q	ENSP00000354735:E1255Q	E	+	1	0	RYR3	31724010	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	3.868000	0.56055	2.655000	0.90218	0.563000	0.77884	GAG		0.512	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1				6	13	0	0	0	0.02938	0	6	13		
RYR3	6263	broad.mit.edu	37	15	34151822	34151822	+	Missense_Mutation	SNP	T	T	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr15:34151822T>G	ENST00000389232.4	+	100	14259	c.14189T>G	c.(14188-14190)aTt>aGt	p.I4730S	RP11-3D4.3_ENST00000560404.1_RNA|RYR3_ENST00000415757.3_Missense_Mutation_p.I4725S|RP11-3D4.2_ENST00000560268.1_RNA	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4730					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGAGGTGGCATTGGTGATGAA	0.423																																						uc001zhi.2		NaN																	0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(14188-14190)ATT>AGT		ryanodine receptor 3							288.0	281.0	283.0					15																	34151822		2026	4179	6205	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34151822T>G		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.14189T>G	15.37:g.34151822T>G	ENSP00000373884:p.Ile4730Ser					RYR3_uc010bar.2_Missense_Mutation_p.I4725S	p.I4730S	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	100	14259	+		all_lung(180;7.18e-09)	4730			Helical; Name=M9; (Potential).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.14189T>G	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.619936	0.87460	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.92595	-3.07	5.24	5.24	0.73138	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.96796	0.8954	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	0.994;1.0	D;D	0.91635	0.981;0.999	D	0.97660	1.0160	10	0.87932	D	0	.	15.5966	0.76587	0.0:0.0:0.0:1.0	.	4725;4730	Q15413-2;Q15413	.;RYR3_HUMAN	S	4730;4726	ENSP00000373884:I4730S	ENSP00000354735:I4726S	I	+	2	0	RYR3	31939114	1.000000	0.71417	0.990000	0.47175	0.970000	0.65996	7.748000	0.85085	2.326000	0.78906	0.533000	0.62120	ATT		0.423	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1				9	29	0	0	0	0.069234	0	9	29		
CASC5	57082	broad.mit.edu	37	15	40913375	40913375	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr15:40913375G>A	ENST00000346991.5	+	11	1381	c.991G>A	c.(991-993)Gaa>Aaa	p.E331K	CASC5_ENST00000527044.1_3'UTR|CASC5_ENST00000399668.2_Missense_Mutation_p.E305K			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	331	Interaction with BUB1 and BUB1B.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CAACTCACGGGAATCTAAAGG	0.378																																						uc010bbs.1		NaN																	0				breast(3)|central_nervous_system(1)|skin(1)	5						c.(991-993)GAA>AAA		cancer susceptibility candidate 5 isoform 1							63.0	60.0	61.0					15																	40913375		1855	4099	5954	SO:0001583	missense	57082				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr15:40913375G>A	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.991G>A	15.37:g.40913375G>A	ENSP00000335463:p.Glu331Lys					CASC5_uc010ucq.1_Missense_Mutation_p.E155K|CASC5_uc001zme.2_Missense_Mutation_p.E305K|CASC5_uc010bbt.1_Missense_Mutation_p.E305K	p.E331K	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	11	1152	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	331			Interaction with BUB1 and BUB1B.		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	c.991G>A	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.596712	0.46318	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.06142	3.34;3.34	5.67	1.59	0.23543	.	0.618468	0.15610	N	0.253426	T	0.07638	0.0192	M	0.63843	1.955	0.09310	N	1	B;B;B	0.17268	0.01;0.01;0.021	B;B;B	0.21917	0.009;0.009;0.037	T	0.28364	-1.0046	10	0.40728	T	0.16	.	5.626	0.17482	0.2756:0.2552:0.4692:0.0	.	305;331;305	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	K	331;305;305	ENSP00000335463:E331K;ENSP00000382576:E305K	ENSP00000260369:E305K	E	+	1	0	CASC5	38700667	0.831000	0.29352	0.339000	0.25562	0.803000	0.45373	0.881000	0.28173	0.350000	0.24002	0.313000	0.20887	GAA		0.378	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2		NM_144508		10	26	0	0	0	0.069234	0	10	26		
INO80	54617	broad.mit.edu	37	15	41365655	41365655	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr15:41365655C>T	ENST00000361937.3	-	11	1790	c.1366G>A	c.(1366-1368)Gaa>Aaa	p.E456K	INO80_ENST00000401393.3_Missense_Mutation_p.E456K			Q9ULG1	INO80_HUMAN	INO80 complex subunit	456	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TAAGCATTTTCAGCATTCTTC	0.378																																						uc001zni.2		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1366-1368)GAA>AAA		INO80 complex homolog 1							156.0	143.0	147.0					15																	41365655		2203	4300	6503	SO:0001583	missense	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41365655C>T	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.1366G>A	15.37:g.41365655C>T	ENSP00000355205:p.Glu456Lys					INO80_uc010ucu.1_RNA	p.E456K	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN			11	1579	-			456			Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.		A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	c.1366G>A	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.243204	0.58995	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.90788	-2.73;-2.73	5.45	5.45	0.79879	.	0.051996	0.85682	D	0.000000	D	0.84732	0.5537	N	0.20685	0.6	0.58432	D	0.999994	B	0.02656	0.0	B	0.06405	0.002	T	0.78568	-0.2154	10	0.27082	T	0.32	.	19.2751	0.94029	0.0:1.0:0.0:0.0	.	456	Q9ULG1	INO80_HUMAN	K	456	ENSP00000355205:E456K;ENSP00000384686:E456K	ENSP00000355205:E456K	E	-	1	0	INO80	39152947	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.562000	0.60816	2.563000	0.86464	0.591000	0.81541	GAA		0.378	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2		NM_017553		6	49	0	0	0	0.069234	0	6	49		
WDR76	79968	broad.mit.edu	37	15	44149340	44149340	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr15:44149340A>G	ENST00000263795.6	+	10	1458	c.1388A>G	c.(1387-1389)tAt>tGt	p.Y463C	WDR76_ENST00000381246.2_Missense_Mutation_p.Y399C	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	463										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		CATAGACAGTATTTTATCACT	0.373																																						uc001zti.1		NaN																	0					0						c.(1387-1389)TAT>TGT		WD repeat domain 76							75.0	71.0	72.0					15																	44149340		2198	4298	6496	SO:0001583	missense	79968							g.chr15:44149340A>G	AK023035	CCDS10106.1, CCDS53938.1	15q15.3	2013-01-09			ENSG00000092470	ENSG00000092470		"""WD repeat domain containing"""	25773	protein-coding gene	gene with protein product						12860291	Standard	NM_024908		Approved	FLJ12973	uc001zti.2	Q9H967	OTTHUMG00000060143	ENST00000263795.6:c.1388A>G	15.37:g.44149340A>G	ENSP00000263795:p.Tyr463Cys						p.Y463C	NM_024908	NP_079184	Q9H967	WDR76_HUMAN		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)	10	1411	+		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)	463			WD 4.		A0MNP5|Q05CI4	Missense_Mutation	SNP	ENST00000263795.6	37	c.1388A>G	CCDS10106.1	.	.	.	.	.	.	.	.	.	.	A	13.33	2.206360	0.39003	.	.	ENSG00000092470	ENST00000263795;ENST00000381246	T;T	0.67523	-0.27;-0.27	5.64	4.5	0.54988	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.131159	0.53938	D	0.000055	T	0.66848	0.2831	M	0.78223	2.4	0.50632	D	0.999887	B	0.26512	0.151	B	0.29524	0.103	T	0.65965	-0.6040	10	0.56958	D	0.05	-11.7807	10.0361	0.42129	0.8497:0.0:0.0:0.1503	.	463	Q9H967	WDR76_HUMAN	C	463;399	ENSP00000263795:Y463C;ENSP00000370645:Y399C	ENSP00000263795:Y463C	Y	+	2	0	WDR76	41936632	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	3.688000	0.54699	1.049000	0.40321	-0.344000	0.07964	TAT		0.373	WDR76-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133482.2		NM_024908		12	16	0	0	0	0.175082	0	12	16		
DUOX2	50506	broad.mit.edu	37	15	45389939	45389939	+	Splice_Site	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr15:45389939C>T	ENST00000603300.1	-	28	3768	c.3566G>A	c.(3565-3567)gGt>gAt	p.G1189D	DUOX2_ENST00000389039.6_Splice_Site_p.G1189D	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1189	Ferric oxidoreductase.|Interaction with TXNDC11. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		ACCTGTCATACCTGGGGGCAG	0.587																																						uc010bea.2		NaN																	0				ovary(2)|skin(2)|pancreas(1)	5						c.(3565-3567)GGT>GAT		dual oxidase 2 precursor							63.0	59.0	61.0					15																	45389939		2198	4298	6496	SO:0001630	splice_region_variant	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45389939C>T	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.3566-1G>A	15.37:g.45389939C>T						DUOX2_uc001zun.2_Missense_Mutation_p.G1189D	p.G1189D	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	28	3769	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1189			Interaction with TXNDC11 (By similarity).|Helical; (Potential).|Ferric oxidoreductase.		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	c.3566G>A	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	C	32	5.165784	0.94768	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.79	5.79	0.91817	Flavoprotein transmembrane component (1);	0.000000	0.85682	D	0.000000	D	0.89801	0.6820	H	0.95884	3.735	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92310	0.5857	9	0.72032	D	0.01	.	19.025	0.92929	0.0:1.0:0.0:0.0	.	1189	Q9NRD8	DUOX2_HUMAN	D	1189	.	ENSP00000373691:G1189D	G	-	2	0	DUOX2	43177231	1.000000	0.71417	0.998000	0.56505	0.890000	0.51754	7.770000	0.85390	2.735000	0.93741	0.563000	0.77884	GGT		0.587	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_014080	Missense_Mutation	16	55	0	0	0	0.204396	0	16	55		
PLEKHO2	80301	broad.mit.edu	37	15	65157389	65157389	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr15:65157389G>C	ENST00000323544.4	+	6	903	c.775G>C	c.(775-777)Gag>Cag	p.E259Q	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	259	Pro-rich.									NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						CAGTGGCTCTGAGCAGCCTCC	0.632																																						uc002anv.2		NaN																	0				ovary(1)|lung(1)	2						c.(775-777)GAG>CAG		pleckstrin homology domain containing, family O							51.0	54.0	53.0					15																	65157389		2202	4299	6501	SO:0001583	missense	80301							g.chr15:65157389G>C	AF318373	CCDS10196.1, CCDS73739.1	15q22.31	2013-01-10	2007-12-14	2007-12-14	ENSG00000241839	ENSG00000241839		"""Pleckstrin homology (PH) domain containing"""	30026	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family Q member 1"""	PLEKHQ1		12477932	Standard	NM_025201		Approved	DKFZp761K2312, PP1628, pp9099	uc002anv.3	Q8TD55	OTTHUMG00000133050	ENST00000323544.4:c.775G>C	15.37:g.65157389G>C	ENSP00000326706:p.Glu259Gln					PLEKHO2_uc010bgz.2_Intron|PLEKHO2_uc002anw.2_Missense_Mutation_p.E209Q	p.E259Q	NM_025201	NP_079477	Q8TD55	PKHO2_HUMAN			6	909	+			259			Pro-rich.		Q7L4H4|Q8WYS8	Missense_Mutation	SNP	ENST00000323544.4	37	c.775G>C	CCDS10196.1	.	.	.	.	.	.	.	.	.	.	G	8.334	0.827265	0.16749	.	.	ENSG00000241839	ENST00000323544	T	0.32988	1.43	5.95	0.546	0.17196	.	1.003210	0.08028	N	0.992981	T	0.17066	0.0410	N	0.24115	0.695	0.09310	N	1	B;B	0.25809	0.135;0.017	B;B	0.18561	0.022;0.016	T	0.30592	-0.9973	10	0.18276	T	0.48	.	5.7098	0.17929	0.5887:0.1746:0.2367:0.0	.	209;259	Q8TD55-2;Q8TD55	.;PKHO2_HUMAN	Q	259	ENSP00000326706:E259Q	ENSP00000326706:E259Q	E	+	1	0	PLEKHO2	62944442	0.063000	0.20901	0.001000	0.08648	0.454000	0.32378	0.423000	0.21313	0.038000	0.15604	0.655000	0.94253	GAG		0.632	PLEKHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256659.1		NM_025201		25	32	0	0	0	0.144211	0	25	32		
PLEKHO2	80301	broad.mit.edu	37	15	65157595	65157595	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr15:65157595G>C	ENST00000323544.4	+	6	1109	c.981G>C	c.(979-981)gaG>gaC	p.E327D	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	327	Pro-rich.									NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						CCATGGGTGAGATGCAGGCTT	0.597																																						uc002anv.2		NaN																	0				ovary(1)|lung(1)	2						c.(979-981)GAG>GAC		pleckstrin homology domain containing, family O							50.0	56.0	54.0					15																	65157595		2202	4299	6501	SO:0001583	missense	80301							g.chr15:65157595G>C	AF318373	CCDS10196.1, CCDS73739.1	15q22.31	2013-01-10	2007-12-14	2007-12-14	ENSG00000241839	ENSG00000241839		"""Pleckstrin homology (PH) domain containing"""	30026	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family Q member 1"""	PLEKHQ1		12477932	Standard	NM_025201		Approved	DKFZp761K2312, PP1628, pp9099	uc002anv.3	Q8TD55	OTTHUMG00000133050	ENST00000323544.4:c.981G>C	15.37:g.65157595G>C	ENSP00000326706:p.Glu327Asp					PLEKHO2_uc010bgz.2_Missense_Mutation_p.E3D|PLEKHO2_uc002anw.2_Missense_Mutation_p.E277D	p.E327D	NM_025201	NP_079477	Q8TD55	PKHO2_HUMAN			6	1115	+			327			Pro-rich.		Q7L4H4|Q8WYS8	Missense_Mutation	SNP	ENST00000323544.4	37	c.981G>C	CCDS10196.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.486201	0.01018	.	.	ENSG00000241839	ENST00000323544	T	0.29142	1.58	5.4	0.0216	0.14130	.	0.981230	0.08347	N	0.959830	T	0.12817	0.0311	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.34004	-0.9846	10	0.15066	T	0.55	.	4.2091	0.10503	0.0729:0.3661:0.2437:0.3173	.	277;327	Q8TD55-2;Q8TD55	.;PKHO2_HUMAN	D	327	ENSP00000326706:E327D	ENSP00000326706:E327D	E	+	3	2	PLEKHO2	62944648	0.000000	0.05858	0.001000	0.08648	0.247000	0.25773	-1.108000	0.03313	-0.258000	0.09446	0.591000	0.81541	GAG		0.597	PLEKHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256659.1		NM_025201		8	21	0	0	0	0.09319	0	8	21		
PLEKHO2	80301	broad.mit.edu	37	15	65157914	65157914	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr15:65157914G>A	ENST00000323544.4	+	6	1428	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	434										NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						GCTGGGCAGTGAGCCGGCCCC	0.602																																						uc002anv.2		NaN																	0				ovary(1)|lung(1)	2						c.(1300-1302)GAG>AAG		pleckstrin homology domain containing, family O							45.0	48.0	47.0					15																	65157914		2202	4299	6501	SO:0001583	missense	80301							g.chr15:65157914G>A	AF318373	CCDS10196.1, CCDS73739.1	15q22.31	2013-01-10	2007-12-14	2007-12-14	ENSG00000241839	ENSG00000241839		"""Pleckstrin homology (PH) domain containing"""	30026	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family Q member 1"""	PLEKHQ1		12477932	Standard	NM_025201		Approved	DKFZp761K2312, PP1628, pp9099	uc002anv.3	Q8TD55	OTTHUMG00000133050	ENST00000323544.4:c.1300G>A	15.37:g.65157914G>A	ENSP00000326706:p.Glu434Lys					PLEKHO2_uc010bgz.2_Missense_Mutation_p.E110K|PLEKHO2_uc002anw.2_Missense_Mutation_p.E384K	p.E434K	NM_025201	NP_079477	Q8TD55	PKHO2_HUMAN			6	1434	+			434					Q7L4H4|Q8WYS8	Missense_Mutation	SNP	ENST00000323544.4	37	c.1300G>A	CCDS10196.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.969246	0.34754	.	.	ENSG00000241839	ENST00000323544	T	0.39592	1.07	5.13	2.15	0.27550	.	0.706882	0.14165	N	0.337061	T	0.27967	0.0689	L	0.29908	0.895	0.30540	N	0.766568	B;B	0.31680	0.253;0.335	B;B	0.25291	0.059;0.039	T	0.19257	-1.0311	10	0.87932	D	0	.	8.3203	0.32126	0.0802:0.2958:0.624:0.0	.	384;434	Q8TD55-2;Q8TD55	.;PKHO2_HUMAN	K	434	ENSP00000326706:E434K	ENSP00000326706:E434K	E	+	1	0	PLEKHO2	62944967	0.986000	0.35501	0.699000	0.30290	0.468000	0.32798	2.742000	0.47434	0.167000	0.19631	-0.275000	0.10095	GAG		0.602	PLEKHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256659.1		NM_025201		28	21	0	0	0	0.144211	0	28	21		
RASL12	51285	broad.mit.edu	37	15	65360144	65360144	+	Silent	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr15:65360144C>G	ENST00000220062.4	-	1	306	c.30G>C	c.(28-30)gcG>gcC	p.A10A	RASL12_ENST00000434605.2_Intron|RASL12_ENST00000421977.3_Silent_p.A10A	NM_016563.2	NP_057647.1	Q9NYN1	RASLC_HUMAN	RAS-like, family 12	10					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						GCCCGCTGCCCGCGCGGGGTT	0.766																																						uc002aoi.1		NaN																	0				skin(1)	1						c.(28-30)GCG>GCC		RAS-like, family 12 protein							5.0	7.0	6.0					15																	65360144		2033	4126	6159	SO:0001819	synonymous_variant	51285				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity	g.chr15:65360144C>G	AF233588	CCDS10200.1	15q11.2-q22.33	2014-05-09			ENSG00000103710	ENSG00000103710			30289	protein-coding gene	gene with protein product	"""Ras family member Ris"""					12107412	Standard	NM_016563		Approved	RIS	uc002aoi.1	Q9NYN1	OTTHUMG00000133115	ENST00000220062.4:c.30G>C	15.37:g.65360144C>G						RASL12_uc002aoj.1_Silent_p.A10A|RASL12_uc010uir.1_Intron	p.A10A	NM_016563	NP_057647	Q9NYN1	RASLC_HUMAN			1	245	-			10					B2RC29|B4DJW2|B4DU82	Silent	SNP	ENST00000220062.4	37	c.30G>C	CCDS10200.1																																																																																				0.766	RASL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256782.2		NM_016563		8	11	0	0	0	0.058154	0	8	11		
BBS4	585	broad.mit.edu	37	15	73007669	73007669	+	Silent	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr15:73007669C>G	ENST00000268057.4	+	5	299	c.258C>G	c.(256-258)tcC>tcG	p.S86S	BBS4_ENST00000395205.2_Silent_p.S94S|BBS4_ENST00000539603.1_Silent_p.S74S|BBS4_ENST00000542334.1_5'UTR|BBS4_ENST00000564239.1_3'UTR	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	86					adult behavior (GO:0030534)|brain morphogenesis (GO:0048854)|centrosome organization (GO:0051297)|cerebral cortex development (GO:0021987)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|dendrite development (GO:0016358)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|maintenance of protein location in nucleus (GO:0051457)|melanosome transport (GO:0032402)|metabolic process (GO:0008152)|microtubule anchoring at centrosome (GO:0034454)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of systemic arterial blood pressure (GO:0003085)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of cilium assembly (GO:0045724)|positive regulation of multicellular organism growth (GO:0040018)|protein localization to centrosome (GO:0071539)|protein localization to organelle (GO:0033365)|protein transport (GO:0015031)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of cytokinesis (GO:0032465)|regulation of lipid metabolic process (GO:0019216)|retina homeostasis (GO:0001895)|retinal rod cell development (GO:0046548)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)|spermatid development (GO:0007286)|striatum development (GO:0021756)|visual perception (GO:0007601)	BBSome (GO:0034464)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary membrane (GO:0060170)|cilium (GO:0005929)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|dynactin binding (GO:0034452)|microtubule motor activity (GO:0003777)|RNA polymerase II repressing transcription factor binding (GO:0001103)			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						TCCAAGAATCCCTAGAACTCT	0.443									Bardet-Biedl syndrome																													uc002avb.2		NaN																	0					0						c.(256-258)TCC>TCG		Bardet-Biedl syndrome 4							122.0	119.0	120.0					15																	73007669		2198	4297	6495	SO:0001819	synonymous_variant	585	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity	g.chr15:73007669C>G	AF090947	CCDS10246.1, CCDS58377.1	15q22.3-q23	2013-01-10			ENSG00000140463	ENSG00000140463		"""Tetratricopeptide (TTC) repeat domain containing"""	969	protein-coding gene	gene with protein product		600374				7711739, 11381270	Standard	NM_033028		Approved		uc002avb.3	Q96RK4	OTTHUMG00000133510	ENST00000268057.4:c.258C>G	15.37:g.73007669C>G						BBS4_uc010ukv.1_Silent_p.S74S|BBS4_uc002avc.2_5'UTR|BBS4_uc002avd.2_Silent_p.S94S	p.S86S	NM_033028	NP_149017	Q96RK4	BBS4_HUMAN			5	301	+			86			TPR 1.		B4E178|Q53DZ5|Q8NHU9|Q96H45	Silent	SNP	ENST00000268057.4	37	c.258C>G	CCDS10246.1																																																																																				0.443	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257473.2		NM_033028		13	26	0	0	0	0.132662	0	13	26		
RASGRF1	5923	broad.mit.edu	37	15	79284125	79284125	+	Silent	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr15:79284125C>T	ENST00000419573.3	-	22	3361	c.3087G>A	c.(3085-3087)gtG>gtA	p.V1029V	RASGRF1_ENST00000394745.3_Silent_p.V245V|RASGRF1_ENST00000558480.2_Silent_p.V1013V|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	1029					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCTCAGCCTTCACGCCTTCAG	0.542																																						uc002beq.2		NaN																	0				skin(4)|ovary(1)|central_nervous_system(1)	6						c.(3085-3087)GTG>GTA		Ras protein-specific guanine							96.0	84.0	88.0					15																	79284125		2196	4293	6489	SO:0001819	synonymous_variant	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79284125C>T	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.3087G>A	15.37:g.79284125C>T						RASGRF1_uc002bep.2_Silent_p.V1013V|RASGRF1_uc010blm.1_Silent_p.V938V|RASGRF1_uc002ber.3_Silent_p.V1013V|RASGRF1_uc010unh.1_Silent_p.V424V|RASGRF1_uc002beo.2_Silent_p.V245V	p.V1029V	NM_002891	NP_002882	Q13972	RGRF1_HUMAN			22	3462	-			1031					F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	ENST00000419573.3	37	c.3087G>A	CCDS10309.1																																																																																				0.542	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3		NM_002891		8	29	0	0	0	0.047766	0	8	29		
RASGRF1	5923	broad.mit.edu	37	15	79284133	79284133	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr15:79284133C>T	ENST00000419573.3	-	22	3353	c.3079G>A	c.(3079-3081)Gaa>Aaa	p.E1027K	RASGRF1_ENST00000394745.3_Missense_Mutation_p.E243K|RASGRF1_ENST00000558480.2_Missense_Mutation_p.E1011K|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	1027					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TTCACGCCTTCAGCCTGGTTT	0.547																																						uc002beq.2		NaN																	0				skin(4)|ovary(1)|central_nervous_system(1)	6						c.(3079-3081)GAA>AAA		Ras protein-specific guanine							88.0	77.0	81.0					15																	79284133		2196	4293	6489	SO:0001583	missense	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79284133C>T	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.3079G>A	15.37:g.79284133C>T	ENSP00000405963:p.Glu1027Lys					RASGRF1_uc002bep.2_Missense_Mutation_p.E1011K|RASGRF1_uc010blm.1_Missense_Mutation_p.E936K|RASGRF1_uc002ber.3_Missense_Mutation_p.E1011K|RASGRF1_uc010unh.1_Missense_Mutation_p.E422K|RASGRF1_uc002beo.2_Missense_Mutation_p.E243K	p.E1027K	NM_002891	NP_002882	Q13972	RGRF1_HUMAN			22	3454	-			1029					F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	c.3079G>A	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.778134	0.31502	.	.	ENSG00000058335	ENST00000419573;ENST00000394741;ENST00000394745	T;T	0.29655	1.56;1.56	4.13	4.13	0.48395	Ras guanine nucleotide exchange factor, domain (1);	0.213014	0.39274	N	0.001412	T	0.26085	0.0636	L	0.42245	1.32	0.48185	D	0.999609	P;B;B;B	0.38048	0.616;0.088;0.325;0.074	B;B;B;B	0.39590	0.254;0.084;0.304;0.113	T	0.02860	-1.1101	10	0.18710	T	0.47	.	11.7655	0.51928	0.0:1.0:0.0:0.0	.	423;1011;1029;1011	B7Z6Z6;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	K	1027;1011;243	ENSP00000405963:E1027K;ENSP00000378228:E243K	ENSP00000378224:E1011K	E	-	1	0	RASGRF1	77071188	0.999000	0.42202	0.873000	0.34254	0.229000	0.25112	4.151000	0.58105	2.125000	0.65367	0.650000	0.86243	GAA		0.547	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3		NM_002891		6	27	0	0	0	0.02938	0	6	27		
CPEB1	64506	broad.mit.edu	37	15	83218237	83218237	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr15:83218237C>G	ENST00000562019.1	-	9	1703	c.1387G>C	c.(1387-1389)Gac>Cac	p.D463H	RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000398591.2_Missense_Mutation_p.D388H|CPEB1_ENST00000568128.1_Missense_Mutation_p.D458H|CPEB1_ENST00000450751.2_Missense_Mutation_p.D383H|CPEB1_ENST00000568757.1_Missense_Mutation_p.D383H|CPEB1_ENST00000423133.2_Missense_Mutation_p.D383H|CPEB1_ENST00000564522.1_Missense_Mutation_p.D383H|CPEB1_ENST00000261723.6_Missense_Mutation_p.D461H|CPEB1_ENST00000398592.2_Missense_Mutation_p.D232H|RP11-152F13.10_ENST00000562833.1_Missense_Mutation_p.L192F|CPEB1_ENST00000563800.1_Missense_Mutation_p.D485H			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	463	Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to amino acid stimulus (GO:0071230)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|mRNA processing (GO:0006397)|negative regulation of cytoplasmic translation (GO:2000766)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			TTATCTGTGTCAATCCCGGCA	0.517																																						uc002bit.2		NaN																	0				ovary(1)|breast(1)	2						c.(1567-1569)GAC>CAC		cytoplasmic polyadenylation element binding							82.0	80.0	80.0					15																	83218237		2018	4182	6200	SO:0001583	missense	64506				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding	g.chr15:83218237C>G	AF329402	CCDS42072.1, CCDS45329.1, CCDS45330.1, CCDS42072.2, CCDS45329.2, CCDS45330.2	15q25.1	2008-02-05				ENSG00000214575			21744	protein-coding gene	gene with protein product		607342				11223249	Standard	NM_001079533		Approved	FLJ13203, CPEB	uc002biv.3	Q9BZB8		ENST00000562019.1:c.1387G>C	15.37:g.83218237C>G	ENSP00000457836:p.Asp463His					CPEB1_uc002biq.2_Missense_Mutation_p.D383H|CPEB1_uc002bir.2_Missense_Mutation_p.D388H|CPEB1_uc002bis.2_Missense_Mutation_p.D383H|CPEB1_uc010uod.1_Missense_Mutation_p.D232H|CPEB1_uc010uoe.1_Missense_Mutation_p.D461H|CPEB1_uc002biu.2_Missense_Mutation_p.D485H|CPEB1_uc010uof.1_Missense_Mutation_p.D383H|CPEB1_uc002biv.2_Missense_Mutation_p.D458H|CPEB1_uc002bip.2_Missense_Mutation_p.D232H	p.D523H	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		9	1704	-			463			RRM 2.|Necessary for stress granule assembly and correct localization in dcp1 bodies.		B7Z6C6|Q86W46|Q8IV41|Q9BZB7|Q9H8V5	Missense_Mutation	SNP	ENST00000562019.1	37	c.1567G>C		.	.	.	.	.	.	.	.	.	.	C	32	5.147235	0.94603	.	.	ENSG00000214575	ENST00000450751;ENST00000398593;ENST00000423133;ENST00000398591;ENST00000261723;ENST00000398592	T;T;T;T	0.26660	1.72;1.72;1.72;1.72	6.02	6.02	0.97574	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	U	0.000000	T	0.60508	0.2274	M	0.87038	2.855	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;0.999	T	0.63919	-0.6528	10	0.72032	D	0.01	-11.09	20.5407	0.99260	0.0:1.0:0.0:0.0	.	461;458;463;458	B7Z237;Q9BZB8-3;Q9BZB8;E7ET70	.;.;CPEB1_HUMAN;.	H	458;458;383;388;461;232	ENSP00000397526:D383H;ENSP00000381591:D388H;ENSP00000261723:D461H;ENSP00000381592:D232H	ENSP00000261723:D461H	D	-	1	0	CPEB1	81015292	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.760000	0.85248	2.865000	0.98341	0.655000	0.94253	GAC		0.517	CPEB1-006	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000421102.1		NM_030594		16	41	0	0	0	0.062417	0	16	41		
GNPTG	84572	broad.mit.edu	37	16	1413046	1413046	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr16:1413046C>T	ENST00000204679.4	+	11	915	c.872C>T	c.(871-873)tCt>tTt	p.S291F	LA16c-316G12.2_ENST00000569831.1_RNA	NM_032520.4	NP_115909.1	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphate transferase, gamma subunit	291					carbohydrate phosphorylation (GO:0046835)|N-glycan processing to lysosome (GO:0016256)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				AGAGCCAAGTCTCCAGAGCAG	0.622																																						uc002clm.2		NaN																	0				central_nervous_system(1)	1						c.(871-873)TCT>TTT		N-acetylglucosamine-1-phosphotransferase, gamma							55.0	49.0	51.0					16																	1413046		2199	4300	6499	SO:0001583	missense	84572					extracellular region|Golgi apparatus	protein binding	g.chr16:1413046C>T	BC014592	CCDS10436.1	16p13.3	2009-04-17		2004-10-01	ENSG00000090581	ENSG00000090581			23026	protein-coding gene	gene with protein product	"""GlcNAc-phosphotransferase gamma-subunit"""	607838	"""N-acetylglucosamine-1-phosphotransferase, gamma subunit"", ""chromosome 16 open reading frame 27"""	GNPTAG, C16orf27		10712439	Standard	NM_032520		Approved	CAB56184, c316G12.3	uc002clm.3	Q9UJJ9	OTTHUMG00000047835	ENST00000204679.4:c.872C>T	16.37:g.1413046C>T	ENSP00000204679:p.Ser291Phe						p.S291F	NM_032520	NP_115909	Q9UJJ9	GNPTG_HUMAN			11	907	+		Hepatocellular(780;0.0893)	291					B2R556|Q6XYD7|Q96L13	Missense_Mutation	SNP	ENST00000204679.4	37	c.872C>T	CCDS10436.1	.	.	.	.	.	.	.	.	.	.	C	11.49	1.654002	0.29425	.	.	ENSG00000090581	ENST00000204679	D	0.89123	-2.47	5.03	0.183	0.15082	.	2.750460	0.01201	N	0.007590	T	0.80763	0.4685	N	0.14661	0.345	0.09310	N	1	B	0.26744	0.158	B	0.23574	0.047	T	0.68864	-0.5296	10	0.56958	D	0.05	-0.2496	7.1164	0.25418	0.0:0.5299:0.0:0.4701	.	291	Q9UJJ9	GNPTG_HUMAN	F	291	ENSP00000204679:S291F	ENSP00000204679:S291F	S	+	2	0	GNPTG	1353047	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.239000	0.18023	-0.198000	0.10333	0.650000	0.86243	TCT		0.622	GNPTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109058.2		NM_032520		11	19	0	0	0	0.09319	0	11	19		
TBL3	10607	broad.mit.edu	37	16	2024268	2024268	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr16:2024268G>A	ENST00000568546.1	+	3	292	c.164G>A	c.(163-165)gGg>gAg	p.G55E		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	55					G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|intracellular signal transduction (GO:0035556)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						GTGGCCTCGGGGGCCGTGCTG	0.647																																					Melanoma(118;616 1651 35077 38081 48633)	uc002cnu.1		NaN																	0					0						c.(163-165)GGG>GAG		transducin beta-like 3							71.0	75.0	74.0					16																	2024268		2199	4300	6499	SO:0001583	missense	10607				G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity	g.chr16:2024268G>A	U02609	CCDS10453.1	16p13.3	2013-01-10			ENSG00000183751	ENSG00000183751		"""WD repeat domain containing"""	11587	protein-coding gene	gene with protein product		605915				8307582	Standard	NM_006453		Approved	SAZD, UTP13	uc002cnu.1	Q12788	OTTHUMG00000128710	ENST00000568546.1:c.164G>A	16.37:g.2024268G>A	ENSP00000454836:p.Gly55Glu					TBL3_uc002cnv.1_5'UTR|TBL3_uc010bsb.1_5'Flank|TBL3_uc010bsc.1_5'Flank|TBL3_uc010uvt.1_5'Flank	p.G55E	NM_006453	NP_006444	Q12788	TBL3_HUMAN			3	266	+			55					Q59GD6|Q8IVB7|Q96A78	Missense_Mutation	SNP	ENST00000568546.1	37	c.164G>A	CCDS10453.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.147926	0.57151	.	.	ENSG00000183751	ENST00000332704	.	.	.	4.53	4.53	0.55603	.	0.324012	0.36972	N	0.002315	D	0.84401	0.5464	M	0.88450	2.955	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.88131	0.2838	9	0.87932	D	0	-32.6565	16.6125	0.84892	0.0:0.0:1.0:0.0	.	55	Q12788	TBL3_HUMAN	E	55	.	ENSP00000331815:G55E	G	+	2	0	TBL3	1964269	1.000000	0.71417	0.668000	0.29813	0.028000	0.11728	5.679000	0.68160	2.213000	0.71641	0.561000	0.74099	GGG		0.647	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250615.3		NM_006453		38	83	0	0	0	0.11126	0	38	83		
DNAH3	55567	broad.mit.edu	37	16	20999096	20999096	+	Silent	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr16:20999096C>T	ENST00000261383.3	-	46	6800	c.6801G>A	c.(6799-6801)tcG>tcA	p.S2267S	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2267	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.S2267S(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AATGTGACTTCGAGGGAGTTG	0.493																																						uc010vbe.1		NaN																	2	Substitution - coding silent(2)		large_intestine(2)	ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(6799-6801)TCG>TCA		dynein, axonemal, heavy chain 3							127.0	106.0	113.0					16																	20999096		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20999096C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.6801G>A	16.37:g.20999096C>T						DNAH3_uc010vbd.1_5'Flank	p.S2267S	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	46	6801	-			2267			AAA 3 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.6801G>A	CCDS10594.1																																																																																				0.493	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1		NM_017539		29	12	0	0	0	0.193644	0	29	12		
EEF2K	29904	broad.mit.edu	37	16	22291646	22291646	+	Missense_Mutation	SNP	G	G	A	rs531682732		TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr16:22291646G>A	ENST00000263026.5	+	17	2491	c.2017G>A	c.(2017-2019)Gag>Aag	p.E673K		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	673					insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		CAGGGAGGCCGAGATGCTGTT	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		18040	0.0		0.0	False		,,,				2504	0.001				NSCLC(195;1411 2157 20319 27471 51856)	uc002dki.2		NaN																	0				large_intestine(1)	1						c.(2017-2019)GAG>AAG		elongation factor-2 kinase							76.0	55.0	62.0					16																	22291646		2197	4300	6497	SO:0001583	missense	29904				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding	g.chr16:22291646G>A	U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.2017G>A	16.37:g.22291646G>A	ENSP00000263026:p.Glu673Lys					EEF2K_uc002dkh.2_RNA	p.E673K	NM_013302	NP_037434	O00418	EF2K_HUMAN		GBM - Glioblastoma multiforme(48;0.0223)	17	2502	+			673					Q8N588	Missense_Mutation	SNP	ENST00000263026.5	37	c.2017G>A	CCDS10604.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.770833	0.69992	.	.	ENSG00000103319	ENST00000263026	T	0.53857	0.6	5.31	5.31	0.75309	Tetratricopeptide-like helical (1);	0.044558	0.85682	D	0.000000	T	0.55065	0.1897	M	0.62723	1.935	0.80722	D	1	P	0.39847	0.691	B	0.38880	0.284	T	0.61466	-0.7057	10	0.62326	D	0.03	-9.7254	18.9821	0.92758	0.0:0.0:1.0:0.0	.	673	O00418	EF2K_HUMAN	K	673	ENSP00000263026:E673K	ENSP00000263026:E673K	E	+	1	0	EEF2K	22199147	1.000000	0.71417	0.946000	0.38457	0.265000	0.26407	9.439000	0.97543	2.481000	0.83766	0.561000	0.74099	GAG		0.637	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211580.2		NM_013302		28	18	0	0	0	0.163468	0	28	18		
PRRT2	112476	broad.mit.edu	37	16	29824403	29824403	+	Missense_Mutation	SNP	G	G	C	rs529418384		TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr16:29824403G>C	ENST00000358758.7	+	2	311	c.28G>C	c.(28-30)Gag>Cag	p.E10Q	PRRT2_ENST00000567659.1_Missense_Mutation_p.E10Q|AC009133.14_ENST00000569981.1_RNA|PAGR1_ENST00000320330.6_5'Flank|PRRT2_ENST00000567551.1_3'UTR|PRRT2_ENST00000300797.6_Missense_Mutation_p.E10Q|AC009133.20_ENST00000569039.1_RNA	NM_001256442.1|NM_001256443.1|NM_145239.2	NP_001243371.1|NP_001243372.1|NP_660282.2	Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	10					neuromuscular process controlling posture (GO:0050884)|response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						TGAGATCTCTGAGATGAAGGG	0.587																																						uc002due.3		NaN																	0					0						c.(28-30)GAG>CAG		proline-rich transmembrane protein 2							48.0	51.0	50.0					16																	29824403		2197	4300	6497	SO:0001583	missense	112476				response to biotic stimulus	integral to membrane		g.chr16:29824403G>C	BC011405	CCDS10654.1, CCDS58445.1, CCDS58446.1	16p11.2	2014-02-03			ENSG00000167371	ENSG00000167371		"""Proline-rich transmembrane proteins"""	30500	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 1"""	614386	"""infantile convulsions and paroxysmal choreoathetosis"""	ICCA		22101681, 22243967	Standard	NM_145239		Approved	FLJ25513, DKFZp547J199, IFITMD1, FICCA	uc002dud.3	Q7Z6L0	OTTHUMG00000177142	ENST00000358758.7:c.28G>C	16.37:g.29824403G>C	ENSP00000351608:p.Glu10Gln					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|uc002duc.1_5'Flank|PRRT2_uc002dud.2_Missense_Mutation_p.E10Q|PRRT2_uc002duf.1_Missense_Mutation_p.E10Q	p.E10Q	NM_145239	NP_660282	Q7Z6L0	PRRT2_HUMAN			2	329	+			10			Extracellular (Potential).		A8K8M8|Q8N2N8|Q8NAQ7|Q8ND36|Q96FA8	Missense_Mutation	SNP	ENST00000358758.7	37	c.28G>C	CCDS10654.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.953098	0.53293	.	.	ENSG00000167371	ENST00000358758;ENST00000300797	T;T	0.80653	-1.4;-0.29	4.25	4.25	0.50352	.	0.000000	0.48286	D	0.000187	D	0.82884	0.5134	L	0.29908	0.895	0.31696	N	0.641234	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.83275	0.996;0.986;0.994	D	0.83861	0.0268	10	0.87932	D	0	-13.5946	12.3347	0.55060	0.0:0.0:1.0:0.0	.	10;10;10	Q7Z6L0-3;Q7Z6L0;Q7Z6L0-2	.;PRRT2_HUMAN;.	Q	10	ENSP00000351608:E10Q;ENSP00000300797:E10Q	ENSP00000300797:E10Q	E	+	1	0	PRRT2	29731904	0.997000	0.39634	1.000000	0.80357	0.733000	0.41908	3.232000	0.51302	2.387000	0.81309	0.563000	0.77884	GAG		0.587	PRRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255161.3		NM_145239		24	78	0	0	0	0.108266	0	24	78		
FTO	79068	broad.mit.edu	37	16	53967927	53967927	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr16:53967927G>C	ENST00000471389.1	+	8	1492	c.1270G>C	c.(1270-1272)Gag>Cag	p.E424Q	FTO_ENST00000460382.1_Missense_Mutation_p.E25Q|FTO_ENST00000431610.2_Missense_Mutation_p.E25Q|FTO_ENST00000394647.3_Missense_Mutation_p.E128Q|FTO_ENST00000463855.1_Missense_Mutation_p.E46Q	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	424					adipose tissue development (GO:0060612)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|oxidative demethylation (GO:0070989)|oxidative single-stranded DNA demethylation (GO:0035552)|oxidative single-stranded RNA demethylation (GO:0035553)|regulation of lipid storage (GO:0010883)|regulation of multicellular organism growth (GO:0040014)|regulation of respiratory system process (GO:0044065)|regulation of white fat cell proliferation (GO:0070350)|RNA repair (GO:0042245)|temperature homeostasis (GO:0001659)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|oxidative DNA demethylase activity (GO:0035516)|oxidative RNA demethylase activity (GO:0035515)			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						AGTTAAAAGAGAGGGGCTCCC	0.418																																						uc002ehr.2		NaN																	0					0						c.(1270-1272)GAG>CAG		fat mass and obesity associated							74.0	68.0	70.0					16																	53967927		2198	4300	6498	SO:0001583	missense	79068				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:53967927G>C	BC003583	CCDS32448.1	16q12.2	2013-11-15			ENSG00000140718	ENSG00000140718		"""Alkylation repair homologs"""	24678	protein-coding gene	gene with protein product	"""AlkB homolog 9"", ""alpha-ketoglutarate-dependent dioxygenase"""	610966				17434869, 17991826, 22002720	Standard	NM_001080432		Approved	KIAA1752, MGC5149, ALKBH9	uc002ehr.3	Q9C0B1	OTTHUMG00000158780	ENST00000471389.1:c.1270G>C	16.37:g.53967927G>C	ENSP00000418823:p.Glu424Gln					FTO_uc010vha.1_Missense_Mutation_p.E128Q|FTO_uc010cbz.2_Missense_Mutation_p.E25Q|FTO_uc002ehs.2_RNA	p.E424Q	NM_001080432	NP_001073901	Q9C0B1	FTO_HUMAN			8	1492	+			424					A2RUH1|B2RNS0|Q0P676|Q7Z785	Missense_Mutation	SNP	ENST00000471389.1	37	c.1270G>C	CCDS32448.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.708945	0.68615	.	.	ENSG00000140718	ENST00000471389;ENST00000394647;ENST00000431610;ENST00000460382;ENST00000476894;ENST00000463855	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.92	5.92	0.95590	Alpha-ketoglutarate-dependent dioxygenase FTO, C-terminal (1);	0.147220	0.47093	D	0.000250	T	0.62073	0.2398	M	0.68952	2.095	0.46631	D	0.999137	D	0.89917	1.0	D	0.87578	0.998	T	0.60722	-0.7207	10	0.49607	T	0.09	-1.5228	13.7652	0.62990	0.0727:0.0:0.9273:0.0	.	424	Q9C0B1	FTO_HUMAN	Q	424;128;25;25;25;46	ENSP00000418823:E424Q;ENSP00000378142:E128Q;ENSP00000415636:E25Q;ENSP00000417422:E25Q;ENSP00000417843:E46Q	ENSP00000378142:E128Q	E	+	1	0	FTO	52525428	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.622000	0.54217	2.809000	0.96659	0.557000	0.71058	GAG		0.418	FTO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352196.1		NM_001080432		12	25	0	0	0	0.146539	0	12	25		
GPR97	222487	broad.mit.edu	37	16	57714456	57714456	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr16:57714456C>A	ENST00000333493.4	+	8	969	c.808C>A	c.(808-810)Cgc>Agc	p.R270S	GPR97_ENST00000327655.6_Missense_Mutation_p.R60S|GPR97_ENST00000450388.3_Missense_Mutation_p.R150S|RP11-405F3.4_ENST00000563062.1_RNA	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	270					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R270C(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TATCCTCACACGCATCTCCCA	0.577																																						uc002emh.2		NaN																	1	Substitution - Missense(1)		breast(1)	ovary(1)	1						c.(808-810)CGC>AGC		G protein-coupled receptor 97 precursor							148.0	128.0	134.0					16																	57714456		2198	4300	6498	SO:0001583	missense	222487				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57714456C>A	AY140959	CCDS10786.1	16q13	2014-08-08			ENSG00000182885	ENSG00000182885		"""-"", ""GPCR / Class B : Orphans"""	13728	protein-coding gene	gene with protein product						12435584, 222487	Standard	NM_170776		Approved	Pb99, PGR26	uc002emh.3	Q86Y34	OTTHUMG00000133458	ENST00000333493.4:c.808C>A	16.37:g.57714456C>A	ENSP00000332900:p.Arg270Ser					GPR97_uc010vhv.1_Missense_Mutation_p.R150S|GPR97_uc010cdd.2_RNA|GPR97_uc010cde.2_5'UTR	p.R270S	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN			8	911	+			270			Extracellular (Potential).		Q6ZMF4|Q86SL9|Q8IZF1	Missense_Mutation	SNP	ENST00000333493.4	37	c.808C>A	CCDS10786.1	.	.	.	.	.	.	.	.	.	.	c	15.55	2.867532	0.51588	.	.	ENSG00000182885	ENST00000333493;ENST00000327655;ENST00000450388	T;T;T	0.41758	0.99;0.99;0.99	5.26	4.31	0.51392	GPCR, family 2-like (1);	0.908438	0.09421	N	0.804425	T	0.39911	0.1096	L	0.43923	1.385	0.09310	N	1	P	0.41597	0.756	B	0.42593	0.392	T	0.17107	-1.0380	10	0.38643	T	0.18	.	9.8686	0.41160	0.0:0.9057:0.0:0.0943	.	270	Q86Y34	GPR97_HUMAN	S	270;60;150	ENSP00000332900:R270S;ENSP00000331199:R60S;ENSP00000404803:R150S	ENSP00000331199:R60S	R	+	1	0	GPR97	56271957	0.000000	0.05858	0.291000	0.24904	0.727000	0.41649	0.786000	0.26844	1.231000	0.43661	0.586000	0.80456	CGC		0.577	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257333.2		NM_170776		31	86	1	0	1.96642e-18	0.092188	2.09411e-18	31	86		
KCTD19	146212	broad.mit.edu	37	16	67331452	67331452	+	Silent	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr16:67331452C>T	ENST00000304372.5	-	7	1156	c.1101G>A	c.(1099-1101)ttG>ttA	p.L367L	KCTD19_ENST00000562860.1_5'Flank	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	367					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GATGAGTCTTCAAAGCAACTT	0.493																																						uc002esu.2		NaN																	0				skin(1)	1						c.(1099-1101)TTG>TTA		potassium channel tetramerisation domain							113.0	113.0	113.0					16																	67331452		1887	4132	6019	SO:0001819	synonymous_variant	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67331452C>T	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.1101G>A	16.37:g.67331452C>T						KCTD19_uc002est.2_Silent_p.L139L|KCTD19_uc010vjj.1_Silent_p.L110L	p.L367L	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	7	1152	-		Ovarian(137;0.192)	367					B4DZ49|Q8N804	Silent	SNP	ENST00000304372.5	37	c.1101G>A	CCDS42179.1																																																																																				0.493	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1		XM_085367		17	30	0	0	0	0.146539	0	17	30		
RLTPR	146206	broad.mit.edu	37	16	67685194	67685194	+	Silent	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr16:67685194C>T	ENST00000334583.6	+	23	2617	c.2289C>T	c.(2287-2289)atC>atT	p.I763I	RLTPR_ENST00000545661.1_Silent_p.I727I	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	763					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		AGGATGCCATCCAAAATGCCA	0.587																																						uc002etn.2		NaN																	0				breast(1)	1						c.(2287-2289)ATC>ATT		RGD motif, leucine rich repeats, tropomodulin							78.0	84.0	82.0					16																	67685194		2145	4256	6401	SO:0001819	synonymous_variant	146206							g.chr16:67685194C>T	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.2289C>T	16.37:g.67685194C>T						RLTPR_uc010cel.1_Silent_p.I756I|RLTPR_uc010vjr.1_Silent_p.I727I|RLTPR_uc010vjs.1_5'Flank	p.I763I	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	23	2409	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	763					B8X2Z3	Silent	SNP	ENST00000334583.6	37	c.2289C>T	CCDS45513.1																																																																																				0.587	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1		NM_001013838		42	86	0	0	0	0.139131	0	42	86		
ZNF594	84622	broad.mit.edu	37	17	5086617	5086617	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr17:5086617T>C	ENST00000399604.4	-	1	1075	c.935A>G	c.(934-936)gAa>gGa	p.E312G	ZNF594_ENST00000575779.1_Missense_Mutation_p.E312G			Q96JF6	ZN594_HUMAN	zinc finger protein 594	312					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TCTCTGGTGTTCAGTAAGGTG	0.453																																						uc010cla.1		NaN																	0				ovary(2)|skin(1)	3						c.(934-936)GAA>GGA		zinc finger protein 594							93.0	96.0	95.0					17																	5086617		2171	4281	6452	SO:0001583	missense	84622				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:5086617T>C	AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.935A>G	17.37:g.5086617T>C	ENSP00000382513:p.Glu312Gly						p.E312G	NM_032530	NP_115919	Q96JF6	ZN594_HUMAN			2	1091	-			312			C2H2-type 7.		Q6RFS0	Missense_Mutation	SNP	ENST00000399604.4	37	c.935A>G	CCDS42241.1	.	.	.	.	.	.	.	.	.	.	T	1.799	-0.477536	0.04414	.	.	ENSG00000180626	ENST00000399604	T	0.19532	2.14	2.5	1.29	0.21616	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13756	0.0333	L	0.40543	1.245	0.09310	N	1	B	0.28820	0.224	B	0.28553	0.091	T	0.31558	-0.9939	9	0.23302	T	0.38	.	3.0568	0.06187	0.2466:0.0:0.2523:0.5011	.	312	Q96JF6	ZN594_HUMAN	G	312	ENSP00000382513:E312G	ENSP00000382513:E312G	E	-	2	0	ZNF594	5027341	0.000000	0.05858	0.172000	0.22920	0.457000	0.32468	-2.634000	0.00869	0.173000	0.19788	0.379000	0.24179	GAA		0.453	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1		XM_290737		21	25	0	0	0	0.069288	0	21	25		
TP53	7157	broad.mit.edu	37	17	7578454	7578454	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr17:7578454G>A	ENST00000269305.4	-	5	665	c.476C>T	c.(475-477)gCc>gTc	p.A159V	TP53_ENST00000359597.4_Missense_Mutation_p.A159V|TP53_ENST00000445888.2_Missense_Mutation_p.A159V|TP53_ENST00000420246.2_Missense_Mutation_p.A159V|TP53_ENST00000413465.2_Missense_Mutation_p.A159V|TP53_ENST00000455263.2_Missense_Mutation_p.A159V|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	159	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.A159V(33)|p.0?(8)|p.A159D(7)|p.R158fs(6)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.R26fs(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.R158fs*11(1)|p.A66V(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.A27V(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGCCATGGCGCGGACGCG	0.627		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		81	Substitution - Missense(42)|Deletion - In frame(12)|Complex(10)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - frameshift(2)	p.A159V(30)|p.A159P(13)|p.A159A(8)|p.A159T(7)|p.A159D(7)|p.0?(7)|p.A159fs*11(5)|p.A159S(4)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.A159fs*21(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(1)	central_nervous_system(15)|large_intestine(13)|lung(13)|stomach(6)|breast(6)|ovary(6)|oesophagus(4)|bone(4)|liver(4)|haematopoietic_and_lymphoid_tissue(3)|pancreas(2)|upper_aerodigestive_tract(1)|endometrium(1)|urinary_tract(1)|skin(1)|prostate(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(475-477)GCC>GTC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							50.0	51.0	51.0					17																	7578454		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578454G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.476C>T	17.37:g.7578454G>A	ENSP00000269305:p.Ala159Val	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.A159V|TP53_uc002gih.2_Missense_Mutation_p.A159V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.A27V|TP53_uc010cng.1_Missense_Mutation_p.A27V|TP53_uc002gii.1_Missense_Mutation_p.A27V|TP53_uc010cnh.1_Missense_Mutation_p.A159V|TP53_uc010cni.1_Missense_Mutation_p.A159V|TP53_uc002gij.2_Missense_Mutation_p.A159V|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.A66V|TP53_uc002gio.2_Missense_Mutation_p.A27V|TP53_uc010vug.1_Missense_Mutation_p.A120V	p.A159V	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	670	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	159		A -> G (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> D (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.476C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211949	0.58452	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99859	-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23	5.59	2.42	0.29668	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.053992	0.64402	D	0.000001	D	0.99594	0.9853	L	0.49513	1.565	0.50171	D	0.999855	D;P;B;D;P;P;D	0.67145	0.984;0.881;0.358;0.989;0.832;0.769;0.996	P;P;B;P;P;P;P	0.59703	0.774;0.616;0.255;0.741;0.814;0.632;0.862	D	0.98152	1.0442	10	0.87932	D	0	-9.0177	10.7596	0.46258	0.0:0.2672:0.5942:0.1386	.	120;159;159;66;159;159;159	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	V	159;159;159;159;159;159;148;66;27;66;27;159	ENSP00000410739:A159V;ENSP00000352610:A159V;ENSP00000269305:A159V;ENSP00000398846:A159V;ENSP00000391127:A159V;ENSP00000391478:A159V;ENSP00000425104:A27V;ENSP00000423862:A66V;ENSP00000424104:A159V	ENSP00000269305:A159V	A	-	2	0	TP53	7519179	1.000000	0.71417	0.377000	0.26055	0.171000	0.22731	7.969000	0.87988	0.364000	0.24374	-0.176000	0.13171	GCC		0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		63	19	0	0	0	0.139131	0	63	19		
ODF4	146852	broad.mit.edu	37	17	8248778	8248778	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr17:8248778T>C	ENST00000328248.2	+	2	760	c.572T>C	c.(571-573)aTc>aCc	p.I191T	ODF4_ENST00000584943.1_Missense_Mutation_p.I76T	NM_153007.4	NP_694552.2	Q2M2E3	ODFP4_HUMAN	outer dense fiber of sperm tails 4	191					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|outer dense fiber (GO:0001520)				endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						CTGGTGCTTATCCTATACTTC	0.532																																						uc002gle.1		NaN																	0				ovary(1)	1						c.(571-573)ATC>ACC		outer dense fiber of sperm tails 4							209.0	186.0	194.0					17																	8248778		2203	4300	6503	SO:0001583	missense	146852				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr17:8248778T>C	AB081120	CCDS11140.1	17p13	2010-09-27			ENSG00000184650	ENSG00000184650			19056	protein-coding gene	gene with protein product	"""cancer/testis antigen 136"""	610097					Standard	NM_153007		Approved	OPPO1, CT136	uc002gle.1	Q2M2E3	OTTHUMG00000108190	ENST00000328248.2:c.572T>C	17.37:g.8248778T>C	ENSP00000331086:p.Ile191Thr						p.I191T	NM_153007	NP_694552	Q2M2E3	ODFP4_HUMAN			2	754	+			191			Helical; (Potential).		Q8J021	Missense_Mutation	SNP	ENST00000328248.2	37	c.572T>C	CCDS11140.1	.	.	.	.	.	.	.	.	.	.	T	0.528	-0.859173	0.02610	.	.	ENSG00000184650	ENST00000328248	T	0.30448	1.53	5.13	2.94	0.34122	.	1.275870	0.05525	N	0.562823	T	0.22166	0.0534	N	0.19112	0.55	0.09310	N	1	B	0.24368	0.102	B	0.21917	0.037	T	0.29640	-1.0005	10	0.66056	D	0.02	-4.2355	6.293	0.21071	0.0:0.1938:0.0:0.8062	.	191	Q2M2E3	ODFP4_HUMAN	T	191	ENSP00000331086:I191T	ENSP00000331086:I191T	I	+	2	0	ODF4	8189503	0.000000	0.05858	0.004000	0.12327	0.038000	0.13279	0.380000	0.20602	0.442000	0.26555	0.460000	0.39030	ATC		0.532	ODF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226996.1				75	30	0	0	0	0.139131	0	75	30		
MAP2K3	5606	broad.mit.edu	37	17	21207742	21207742	+	Silent	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr17:21207742G>A	ENST00000342679.4	+	8	822	c.573G>A	c.(571-573)gtG>gtA	p.V191V	MAP2K3_ENST00000361818.5_Silent_p.V162V|MAP2K3_ENST00000316920.6_Silent_p.V162V	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	191	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		TGGCAGATGTGAAGCCCTCCA	0.577																																						uc002gys.2		NaN																	0					0						c.(571-573)GTG>GTA		mitogen-activated protein kinase kinase 3							291.0	192.0	225.0					17																	21207742		2203	4300	6503	SO:0001819	synonymous_variant	5606				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:21207742G>A	L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6843	protein-coding gene	gene with protein product	"""MAPK/ERK kinase 3"", ""MAP kinase kinase 3"", ""dual specificity mitogen activated protein kinase kinase 3"""	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.573G>A	17.37:g.21207742G>A						MAP2K3_uc002gyt.2_Silent_p.V162V|MAP2K3_uc002gyu.2_Silent_p.V162V	p.V191V	NM_145109	NP_659731	P46734	MP2K3_HUMAN		COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)	8	838	+			191			Protein kinase.		B3KSK7|Q99441|Q9UE71|Q9UE72	Silent	SNP	ENST00000342679.4	37	c.573G>A	CCDS11217.1																																																																																				0.577	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2		NM_145109		36	95	0	0	0	0.117977	0	36	95		
KSR1	8844	broad.mit.edu	37	17	25932610	25932610	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr17:25932610G>C	ENST00000319524.6	+	15	1831	c.1831G>C	c.(1831-1833)Gag>Cag	p.E611Q	KSR1_ENST00000509603.2_Missense_Mutation_p.E589Q|KSR1_ENST00000398988.3_Missense_Mutation_p.E474Q|KSR1_ENST00000268763.6_Missense_Mutation_p.E474Q			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	611					Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CATCCCCTTCGAGCAGGTAGA	0.711																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	uc010crg.2		NaN																	0				lung(3)|central_nervous_system(1)	4						c.(1420-1422)GAG>CAG		kinase suppressor of ras							10.0	14.0	13.0					17																	25932610		1928	4113	6041	SO:0001583	missense	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25932610G>C	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.1831G>C	17.37:g.25932610G>C	ENSP00000323178:p.Glu611Gln					KSR1_uc002gzj.1_RNA|KSR1_uc002gzm.2_Missense_Mutation_p.E253Q	p.E474Q	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	15	1865	+	Lung NSC(42;0.00836)		609					F8WEA9|H7BYU0|Q13476	Missense_Mutation	SNP	ENST00000319524.6	37	c.1420G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.497761|5.497761	0.96355|0.96355	.|.	.|.	ENSG00000141068|ENSG00000141068	ENST00000319524;ENST00000509603;ENST00000268763;ENST00000398982|ENST00000398988	T;T;T|.	0.45276|.	0.9;0.9;0.9|.	5.67|5.67	5.67|5.67	0.87782|0.87782	Protein kinase-like domain (1);|.	0.044446|.	0.85682|.	D|.	0.000000|.	T|T	0.74816|0.74816	0.3766|0.3766	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.977|.	D;D|.	0.80764|.	0.994;0.909|.	T|T	0.72656|0.72656	-0.4227|-0.4227	10|5	0.59425|.	D|.	0.04|.	.|.	18.7549|18.7549	0.91828|0.91828	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	609;589|.	Q8IVT5;F5H0K8|.	KSR1_HUMAN;.|.	Q|P	611;589;474;474|324	ENSP00000323178:E611Q;ENSP00000438795:E589Q;ENSP00000268763:E474Q|.	ENSP00000268763:E474Q|.	E|R	+|+	1|2	0|0	KSR1|KSR1	22956737|22956737	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.995000|0.995000	0.86356|0.86356	9.715000|9.715000	0.98748|0.98748	2.681000|2.681000	0.91329|0.91329	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.711	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_014238		3	10	0	0	0	0.115264	0	3	10		
GIT1	28964	broad.mit.edu	37	17	27909075	27909075	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr17:27909075C>T	ENST00000225394.3	-	5	741	c.493G>A	c.(493-495)Gag>Aag	p.E165K	GIT1_ENST00000394869.3_Missense_Mutation_p.E165K|GIT1_ENST00000581348.1_Missense_Mutation_p.E165K|GIT1_ENST00000579937.1_Missense_Mutation_p.E165K|RP11-68I3.2_ENST00000581474.1_RNA	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	165					regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		GTGCCCTTCTCTGGGTGGAAG	0.617																																					Colon(81;41 1719 20078 35068)	uc002hef.2		NaN																	0					0						c.(493-495)GAG>AAG		G protein-coupled receptor kinase interactor 1							68.0	57.0	61.0					17																	27909075		2203	4300	6503	SO:0001583	missense	28964				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr17:27909075C>T	AF124490	CCDS11250.1, CCDS42290.1	17p11.2	2013-01-10	2008-09-05		ENSG00000108262	ENSG00000108262		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4272	protein-coding gene	gene with protein product		608434	"""G protein-coupled receptor kinase interactor 1"""			9826657, 10896954	Standard	NM_014030		Approved		uc002heg.2	Q9Y2X7	OTTHUMG00000132730	ENST00000225394.3:c.493G>A	17.37:g.27909075C>T	ENSP00000225394:p.Glu165Lys					GIT1_uc002heg.2_Missense_Mutation_p.E165K|GIT1_uc010wbg.1_Missense_Mutation_p.E165K|GIT1_uc010csb.1_Missense_Mutation_p.E165K	p.E165K	NM_014030	NP_054749	Q9Y2X7	GIT1_HUMAN		READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)	5	707	-			165					B4DGU9|B4DSV3|Q86SS0|Q9BRJ4	Missense_Mutation	SNP	ENST00000225394.3	37	c.493G>A	CCDS11250.1	.	.	.	.	.	.	.	.	.	.	C	36	5.742718	0.96873	.	.	ENSG00000108262	ENST00000225394;ENST00000394869	T;T	0.67171	-0.25;-0.25	5.1	5.1	0.69264	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.70168	0.3193	N	0.17312	0.475	0.58432	D	0.999996	D;D;D;D	0.69078	0.992;0.996;0.997;0.992	D;D;D;D	0.73708	0.951;0.967;0.981;0.969	T	0.74256	-0.3724	10	0.66056	D	0.02	.	16.8534	0.86000	0.0:1.0:0.0:0.0	.	169;165;165;165	Q59FC3;Q9Y2X7-3;B4DGU9;Q9Y2X7	.;.;.;GIT1_HUMAN	K	165	ENSP00000225394:E165K;ENSP00000378338:E165K	ENSP00000225394:E165K	E	-	1	0	GIT1	24933201	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.825000	0.97269	0.655000	0.94253	GAG		0.617	GIT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256073.1		NM_014030		36	29	0	0	0	0.214465	0	36	29		
ACACA	31	broad.mit.edu	37	17	35549207	35549207	+	Missense_Mutation	SNP	G	G	C	rs148729289	byFrequency	TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr17:35549207G>C	ENST00000394406.2	-	37	4319	c.4129C>G	c.(4129-4131)Ctg>Gtg	p.L1377V	ACACA_ENST00000353139.5_Missense_Mutation_p.L1414V|ACACA_ENST00000360679.3_Missense_Mutation_p.L1319V|ACACA_ENST00000335166.5_Missense_Mutation_p.L1299V	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1377					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TGGAAAGCCAGAGCAGGCTCC	0.443																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	uc002hnm.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(4129-4131)CTG>GTG		acetyl-Coenzyme A carboxylase alpha isoform 2	Biotin(DB00121)						71.0	63.0	66.0					17																	35549207		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35549207G>C	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.4129C>G	17.37:g.35549207G>C	ENSP00000377928:p.Leu1377Val					ACACA_uc002hnk.2_Missense_Mutation_p.L1299V|ACACA_uc002hnl.2_Missense_Mutation_p.L1319V|ACACA_uc002hnn.2_Missense_Mutation_p.L1377V|ACACA_uc002hno.2_Missense_Mutation_p.L1414V|ACACA_uc010cuy.2_Missense_Mutation_p.L71V	p.L1377V	NM_198836	NP_942133	Q13085	ACACA_HUMAN			37	4320	-		Breast(25;0.00157)|Ovarian(249;0.15)	1377					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.4129C>G	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.346992	0.61183	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.68	5.68	0.88126	Acetyl-CoA carboxylase, central domain (1);	0.148729	0.44483	D	0.000448	T	0.70954	0.3283	M	0.91140	3.18	0.80722	D	1	P;P;P;P	0.48407	0.907;0.891;0.91;0.889	P;P;P;P	0.53185	0.702;0.72;0.615;0.48	T	0.75886	-0.3159	10	0.49607	T	0.09	-9.2428	19.4103	0.94670	0.0:0.0:1.0:0.0	.	125;1414;1377;1319	F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;ACACA_HUMAN;.	V	1414;1319;1377;1401;1299;125	ENSP00000344789:L1414V;ENSP00000353898:L1319V;ENSP00000377928:L1377V;ENSP00000335323:L1299V	ENSP00000335323:L1299V	L	-	1	2	ACACA	32623320	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.824000	0.55723	2.669000	0.90835	0.650000	0.86243	CTG		0.443	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1		NM_198836		14	29	0	0	0	0.160694	0	14	29		
AFMID	125061	broad.mit.edu	37	17	76201688	76201688	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr17:76201688G>T	ENST00000327898.5	+	9	658	c.649G>T	c.(649-651)Gac>Tac	p.D217Y	AFMID_ENST00000591952.1_Intron|AFMID_ENST00000409257.5_Missense_Mutation_p.D217Y|AFMID_ENST00000589664.1_Intron|AFMID_ENST00000588800.1_Intron					arylformamidase											autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			CCCCAGGGAGGACGCTCAGAG	0.672																																						uc002jva.3		NaN																	0				large_intestine(1)|pancreas(1)	2						c.(649-651)GAC>TAC		arylformamidase isoform 1							50.0	50.0	50.0					17																	76201688		2203	4300	6503	SO:0001583	missense	125061					cytosol|nucleus	arylformamidase activity	g.chr17:76201688G>T	BX648442	CCDS32750.2, CCDS45801.1	17q25.3	2005-11-09			ENSG00000183077	ENSG00000183077	3.5.1.9		20910	protein-coding gene	gene with protein product							Standard	NR_027083		Approved	DKFZp686F03259, KF	uc002juz.3	Q63HM1	OTTHUMG00000153957	ENST00000327898.5:c.649G>T	17.37:g.76201688G>T	ENSP00000328938:p.Asp217Tyr					AFMID_uc002jvb.3_Intron|AFMID_uc002juz.3_Missense_Mutation_p.D217Y	p.D217Y	NM_001010982	NP_001010982	Q63HM1	AFMID_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)		9	664	+			217						Missense_Mutation	SNP	ENST00000327898.5	37	c.649G>T	CCDS45801.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.386596	0.42308	.	.	ENSG00000183077	ENST00000409257;ENST00000327898	T;T	0.11930	2.73;2.73	4.83	4.83	0.62350	Alpha/beta hydrolase fold-3 (1);	0.186925	0.43416	D	0.000579	T	0.40015	0.1100	M	0.85197	2.74	0.80722	D	1	D;D	0.67145	0.996;0.995	D;P	0.64237	0.923;0.874	T	0.45293	-0.9271	10	0.66056	D	0.02	-11.5019	15.6685	0.77255	0.0:0.0:1.0:0.0	.	217;217	Q63HM1;Q63HM1-2	AFMID_HUMAN;.	Y	217	ENSP00000386890:D217Y;ENSP00000328938:D217Y	ENSP00000328938:D217Y	D	+	1	0	AFMID	73713283	1.000000	0.71417	0.998000	0.56505	0.101000	0.19017	7.683000	0.84093	2.198000	0.70561	0.491000	0.48974	GAC		0.672	AFMID-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333203.1		XM_058889		19	57	1	0	4.63292e-17	0.204396	4.90193e-17	19	57		
DNAH17	8632	broad.mit.edu	37	17	76454708	76454708	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr17:76454708C>G	ENST00000585328.1	-	62	10025	c.9901G>C	c.(9901-9903)Gag>Cag	p.E3301Q	DNAH17_ENST00000389840.5_Missense_Mutation_p.E3292Q|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3292					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTGATTTTCTCAGCTGTTGCT	0.522																																						uc010dhp.1		NaN																	0				ovary(6)|breast(2)|skin(1)	9						c.(916-918)GAG>CAG		SubName: Full=DNAH17 variant protein; Flags: Fragment;							204.0	181.0	189.0					17																	76454708		2203	4300	6503	SO:0001583	missense	8632							g.chr17:76454708C>G	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.9901G>C	17.37:g.76454708C>G	ENSP00000465516:p.Glu3301Gln					DNAH17_uc002jvs.2_RNA	p.E306Q					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		7	1138	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.916G>C		.	.	.	.	.	.	.	.	.	.	C	32	5.126466	0.94429	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.76448	-1.02	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000005	D	0.87370	0.6160	M	0.71581	2.175	0.42726	D	0.993693	D	0.60575	0.988	D	0.69654	0.965	D	0.87671	0.2541	10	0.51188	T	0.08	.	18.9701	0.92711	0.0:1.0:0.0:0.0	.	3301	E7EUM8	.	Q	3301;3292	ENSP00000374490:E3292Q	ENSP00000300671:E3301Q	E	-	1	0	DNAH17	73966303	1.000000	0.71417	0.945000	0.38365	0.965000	0.64279	7.384000	0.79751	2.468000	0.83385	0.467000	0.42956	GAG		0.522	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2		NM_173628		33	86	0	0	0	0.080422	0	33	86		
C1QTNF1	114897	broad.mit.edu	37	17	77043906	77043906	+	Silent	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr17:77043906C>T	ENST00000339142.2	+	5	1137	c.582C>T	c.(580-582)ttC>ttT	p.F194F	C1QTNF1_ENST00000580474.1_Silent_p.F194F|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000579760.1_Silent_p.F194F|C1QTNF1_ENST00000311661.4_Silent_p.F112F|C1QTNF1_ENST00000578229.1_Silent_p.F112F|C1QTNF1_ENST00000392445.2_Silent_p.F194F|C1QTNF1_ENST00000354124.3_Silent_p.F204F|C1QTNF1_ENST00000583904.1_Silent_p.F194F|C1QTNF1_ENST00000580454.1_Silent_p.F194F|C1QTNF1_ENST00000581774.1_Silent_p.F194F	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	194	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase B signaling (GO:0051897)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|regulation of glucose metabolic process (GO:0010906)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			GCCTCTACTTCTTCAGCCTCA	0.552																																						uc002jwp.2		NaN																	0				ovary(1)	1						c.(580-582)TTC>TTT		C1q and tumor necrosis factor related protein 1							170.0	151.0	158.0					17																	77043906		2203	4300	6503	SO:0001819	synonymous_variant	114897					collagen		g.chr17:77043906C>T	AF329840	CCDS11761.1, CCDS11762.1	17q25	2012-07-02			ENSG00000173918	ENSG00000173918			14324	protein-coding gene	gene with protein product	"""G protein coupled receptor interacting protein"""	610365				12409230	Standard	NM_198593		Approved	CTRP1, ZSIG37, GIP, FLJ90694	uc002jwp.4	Q9BXJ1	OTTHUMG00000177533	ENST00000339142.2:c.582C>T	17.37:g.77043906C>T						C1QTNF1_uc002jwq.2_Silent_p.F112F|C1QTNF1_uc002jwr.3_Silent_p.F204F|C1QTNF1_uc002jws.2_Silent_p.F194F|C1QTNF1_uc002jwt.2_Silent_p.F292F	p.F194F	NM_030968	NP_112230	Q9BXJ1	C1QT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)		4	922	+			194			C1q.		Q6ZMH6|Q96NF2|Q9GZR4	Silent	SNP	ENST00000339142.2	37	c.582C>T	CCDS11761.1																																																																																				0.552	C1QTNF1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437388.2		NM_030968		82	69	0	0	0	0.139131	0	82	69		
METRNL	284207	broad.mit.edu	37	17	81043019	81043019	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr17:81043019G>A	ENST00000320095.7	+	2	501	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	METRNL_ENST00000571814.1_Missense_Mutation_p.E44K|METRNL_ENST00000570778.1_Missense_Mutation_p.E44K	NM_001004431.1	NP_001004431.1	Q641Q3	METRL_HUMAN	meteorin, glial cell differentiation regulator-like	126					brown fat cell differentiation (GO:0050873)|fat cell differentiation (GO:0045444)|negative regulation of inflammatory response (GO:0050728)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of energy homeostasis (GO:2000507)|response to cold (GO:0009409)|response to muscle activity (GO:0014850)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone activity (GO:0005179)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			AAAAACTGGAGAACTGAGACT	0.637																																						uc002kgh.2		NaN																	0					0						c.(376-378)GAA>AAA		meteorin, glial cell differentiation							44.0	54.0	50.0					17																	81043019		2203	4300	6503	SO:0001583	missense	284207					extracellular region		g.chr17:81043019G>A	AK093748	CCDS32779.1	17q25.3	2004-12-01				ENSG00000176845			27584	protein-coding gene	gene with protein product							Standard	NM_001004431		Approved		uc002kgh.3	Q641Q3		ENST00000320095.7:c.376G>A	17.37:g.81043019G>A	ENSP00000315731:p.Glu126Lys					METRNL_uc002kgi.2_Missense_Mutation_p.E44K	p.E126K	NM_001004431	NP_001004431	Q641Q3	METRL_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)		2	501	+	Breast(20;0.000443)|all_neural(118;0.0779)		126					B3KSJ5|Q86VM0	Missense_Mutation	SNP	ENST00000320095.7	37	c.376G>A	CCDS32779.1	.	.	.	.	.	.	.	.	.	.	g	13.00	2.107675	0.37242	.	.	ENSG00000176845	ENST00000320095	.	.	.	4.27	4.27	0.50696	.	0.102540	0.64402	D	0.000003	T	0.46483	0.1395	L	0.29908	0.895	0.39652	D	0.970472	P	0.46142	0.873	P	0.46452	0.517	T	0.43048	-0.9415	8	.	.	.	-6.5999	14.6277	0.68635	0.0:0.0:1.0:0.0	.	126	Q641Q3	METRL_HUMAN	K	126	.	.	E	+	1	0	METRNL	78636308	1.000000	0.71417	0.972000	0.41901	0.880000	0.50808	4.521000	0.60532	2.392000	0.81423	0.552000	0.68991	GAA		0.637	METRNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438902.1		NM_001004431		4	66	0	0	0	0.184627	0	4	66		
PTPRM	5797	broad.mit.edu	37	18	8088834	8088834	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr18:8088834G>C	ENST00000332175.8	+	11	2878	c.1841G>C	c.(1840-1842)aGa>aCa	p.R614T	PTPRM_ENST00000580170.1_Missense_Mutation_p.R614T|PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000400053.4_Missense_Mutation_p.R552T|PTPRM_ENST00000444013.1_Missense_Mutation_p.R401T|PTPRM_ENST00000400060.4_Missense_Mutation_p.R614T	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	614	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GCCCACAGCAGAGGAGCACCT	0.458																																						uc002knn.3		NaN																	0				lung(3)|ovary(2)|central_nervous_system(1)	6						c.(1840-1842)AGA>ACA		protein tyrosine phosphatase, receptor type, M							88.0	79.0	82.0					18																	8088834		2203	4300	6503	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8088834G>C	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.1841G>C	18.37:g.8088834G>C	ENSP00000331418:p.Arg614Thr					PTPRM_uc010dkv.2_Missense_Mutation_p.R614T|PTPRM_uc010wzl.1_Missense_Mutation_p.R401T	p.R614T	NM_002845	NP_002836	P28827	PTPRM_HUMAN			11	2344	+		Colorectal(10;0.234)	614			Fibronectin type-III 4.|Extracellular (Potential).		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.1841G>C	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760158	0.89932	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.49432	1.1;1.09;0.93;0.78	5.33	5.33	0.75918	Fibronectin, type III (1);	0.000000	0.85682	D	0.000000	T	0.69088	0.3072	M	0.73217	2.22	0.80722	D	1	P;D;D	0.57899	0.892;0.981;0.981	P;D;D	0.69824	0.652;0.966;0.966	T	0.69803	-0.5046	10	0.54805	T	0.06	.	19.3982	0.94617	0.0:0.0:1.0:0.0	.	401;614;614	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	T	614;614;552;401	ENSP00000331418:R614T;ENSP00000382933:R614T;ENSP00000382927:R552T;ENSP00000387608:R401T	ENSP00000331418:R614T	R	+	2	0	PTPRM	8078834	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.751000	0.98889	2.649000	0.89929	0.650000	0.86243	AGA		0.458	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1				38	15	0	0	0	0.09836	0	38	15		
GNAL	2774	broad.mit.edu	37	18	11868562	11868562	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr18:11868562G>A	ENST00000423027.3	+	9	1021	c.700G>A	c.(700-702)Gtc>Atc	p.V234I	GNAL_ENST00000334049.6_Missense_Mutation_p.V311I|GNAL_ENST00000269162.5_Missense_Mutation_p.V234I|GNAL_ENST00000602628.1_Missense_Mutation_p.V27I|GNAL_ENST00000535121.1_Missense_Mutation_p.V234I			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	234					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|response to amphetamine (GO:0001975)|response to caffeine (GO:0031000)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						TATCATTTACGTCGCAGCCTG	0.463																																						uc010dkz.2		NaN																	0				ovary(1)	1						c.(700-702)GTC>ATC		guanine nucleotide binding protein (G protein),							175.0	151.0	159.0					18																	11868562		2203	4300	6503	SO:0001583	missense	2774				activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr18:11868562G>A	AF493893	CCDS11851.1, CCDS11852.1, CCDS58614.1	18p11.22-p11.21	2003-12-17			ENSG00000141404	ENSG00000141404			4388	protein-coding gene	gene with protein product		139312				1302014	Standard	NM_182978		Approved		uc002kqc.3	P38405	OTTHUMG00000131660	ENST00000423027.3:c.700G>A	18.37:g.11868562G>A	ENSP00000408489:p.Val234Ile					GNAL_uc002kqc.2_Missense_Mutation_p.V311I|GNAL_uc002kqd.2_Missense_Mutation_p.V234I|GNAL_uc010wzt.1_Missense_Mutation_p.V27I	p.V234I	NM_001142339	NP_001135811	P38405	GNAL_HUMAN			10	946	+			234					B7ZA26|Q86XU3	Missense_Mutation	SNP	ENST00000423027.3	37	c.700G>A	CCDS11852.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.917186	0.73098	.	.	ENSG00000141404	ENST00000540217;ENST00000334049;ENST00000535121;ENST00000269162;ENST00000423027;ENST00000535980	D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.94221	0.8145	M	0.69185	2.1	0.80722	D	1	D;D	0.89917	1.0;0.967	D;P	0.85130	0.997;0.769	D	0.93759	0.7065	10	0.62326	D	0.03	.	20.3018	0.98617	0.0:0.0:1.0:0.0	.	234;311	P38405;Q86XU3	GNAL_HUMAN;.	I	173;311;234;234;234;27	ENSP00000334051:V311I;ENSP00000439023:V234I;ENSP00000269162:V234I;ENSP00000408489:V234I	ENSP00000269162:V234I	V	+	1	0	GNAL	11858562	1.000000	0.71417	0.335000	0.25508	0.396000	0.30629	9.394000	0.97261	2.799000	0.96334	0.650000	0.86243	GTC		0.463	GNAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254561.2		NM_182978, NM_002071		33	79	0	0	0	0.124865	0	33	79		
DSG1	1828	broad.mit.edu	37	18	28926024	28926024	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr18:28926024G>C	ENST00000257192.4	+	14	2175	c.1963G>C	c.(1963-1965)Gaa>Caa	p.E655Q	DSG1_ENST00000462981.2_Missense_Mutation_p.E14Q|RP11-534N16.1_ENST00000578119.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RNU6-167P_ENST00000384292.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	655					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GACAGGATTTGAACTAACAGA	0.368																																						uc002kwp.2		NaN																	0				skin(3)|ovary(2)|central_nervous_system(2)	7						c.(1963-1965)GAA>CAA		desmoglein 1 preproprotein							86.0	85.0	85.0					18																	28926024		2203	4300	6503	SO:0001583	missense	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28926024G>C	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.1963G>C	18.37:g.28926024G>C	ENSP00000257192:p.Glu655Gln					DSG1_uc010xbp.1_Missense_Mutation_p.E14Q	p.E655Q	NM_001942	NP_001933	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		14	2175	+			655			Cytoplasmic (Potential).		B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	c.1963G>C	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.631863	0.29068	.	.	ENSG00000134760	ENST00000257192	T	0.77750	-1.12	6.02	6.02	0.97574	Cadherin, cytoplasmic domain (1);	0.086699	0.51477	D	0.000094	D	0.85292	0.5663	M	0.61703	1.905	0.37117	D	0.900618	D	0.67145	0.996	D	0.63877	0.919	D	0.84395	0.0557	10	0.30854	T	0.27	.	17.6967	0.88283	0.0:0.0:1.0:0.0	.	655	Q02413	DSG1_HUMAN	Q	655	ENSP00000257192:E655Q	ENSP00000257192:E655Q	E	+	1	0	DSG1	27180022	1.000000	0.71417	0.995000	0.50966	0.333000	0.28666	4.188000	0.58351	2.865000	0.98341	0.655000	0.94253	GAA		0.368	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1		NM_001942		7	28	0	0	0	0.047766	0	7	28		
KIAA1468	57614	broad.mit.edu	37	18	59925298	59925298	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr18:59925298G>C	ENST00000398130.2	+	14	2246	c.2014G>C	c.(2014-2016)Gat>Cat	p.D672H	KIAA1468_ENST00000256858.6_Missense_Mutation_p.D672H	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	672										autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				GGGATACATTGATGATCCAGA	0.313																																						uc002lil.2		NaN																	0				ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)	6						c.(2014-2016)GAT>CAT		hypothetical protein LOC57614							86.0	84.0	85.0					18																	59925298		2202	4300	6502	SO:0001583	missense	57614						binding	g.chr18:59925298G>C	BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.2014G>C	18.37:g.59925298G>C	ENSP00000381198:p.Asp672His					KIAA1468_uc002lik.1_Missense_Mutation_p.D672H|KIAA1468_uc010xel.1_Missense_Mutation_p.D672H|KIAA1468_uc002lim.2_Missense_Mutation_p.D316H	p.D672H	NM_020854	NP_065905	Q9P260	K1468_HUMAN			14	2229	+		Colorectal(73;0.186)	672			HEAT 2.			Missense_Mutation	SNP	ENST00000398130.2	37	c.2014G>C	CCDS11979.2	.	.	.	.	.	.	.	.	.	.	G	25.4	4.629831	0.87660	.	.	ENSG00000134444	ENST00000398130;ENST00000256858	T;T	0.70399	-0.48;-0.48	5.41	5.41	0.78517	Armadillo-like helical (1);Armadillo-type fold (1);	0.094082	0.64402	D	0.000001	D	0.83335	0.5232	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.996;0.997;0.994	T	0.82442	-0.0455	9	.	.	.	-16.5079	19.2029	0.93719	0.0:0.0:1.0:0.0	.	672;672;316	Q9P260-2;Q9P260;B2RD46	.;K1468_HUMAN;.	H	672	ENSP00000381198:D672H;ENSP00000256858:D672H	.	D	+	1	0	KIAA1468	58076278	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.869000	0.99810	2.546000	0.85860	0.563000	0.77884	GAT		0.313	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1		NM_020854		5	16	0	0	0	0.038147	0	5	16		
CDH7	1005	broad.mit.edu	37	18	63511079	63511079	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr18:63511079C>T	ENST00000397968.2	+	7	1439	c.1013C>T	c.(1012-1014)aCg>aTg	p.T338M	CDH7_ENST00000536984.2_Missense_Mutation_p.T338M|CDH7_ENST00000323011.3_Missense_Mutation_p.T338M	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	338	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				ACAAGTTACACGCTACGGATA	0.418																																						uc002ljz.2		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1012-1014)ACG>ATG		cadherin 7, type 2 preproprotein							102.0	98.0	99.0					18																	63511079		2203	4300	6503	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63511079C>T	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1013C>T	18.37:g.63511079C>T	ENSP00000381058:p.Thr338Met					CDH7_uc002lka.2_Missense_Mutation_p.T338M|CDH7_uc002lkb.2_Missense_Mutation_p.T338M	p.T338M	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN			7	1338	+		Esophageal squamous(42;0.129)	338			Extracellular (Potential).|Cadherin 3.		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.1013C>T	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.285860	0.80803	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.53206	0.63;0.63;0.63	5.04	5.04	0.67666	Cadherin (5);Cadherin-like (1);	0.179258	0.48767	D	0.000171	T	0.49474	0.1559	M	0.79123	2.44	0.58432	D	0.999999	P;P	0.52692	0.955;0.796	B;B	0.36808	0.233;0.179	T	0.61917	-0.6964	10	0.51188	T	0.08	.	18.927	0.92549	0.0:1.0:0.0:0.0	.	338;338	F5H5X9;Q9ULB5	.;CADH7_HUMAN	M	338	ENSP00000319166:T338M;ENSP00000443030:T338M;ENSP00000381058:T338M	ENSP00000319166:T338M	T	+	2	0	CDH7	61662059	1.000000	0.71417	0.253000	0.24343	0.975000	0.68041	7.275000	0.78548	2.767000	0.95098	0.655000	0.94253	ACG		0.418	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2		NM_033646		11	26	0	0	0	0.069234	0	11	26		
LMNB2	84823	broad.mit.edu	37	19	2438516	2438516	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr19:2438516C>T	ENST00000582871.1	-	3	441	c.355G>A	c.(355-357)Gag>Aag	p.E119K	LMNB2_ENST00000325327.3_Missense_Mutation_p.E139K	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	119	Coil 1B.|Rod.					lamin filament (GO:0005638)|nuclear inner membrane (GO:0005637)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTCGCCCTCCCTCTTCTTG	0.662																																						uc002lvy.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(355-357)GAG>AAG		lamin B2							29.0	26.0	27.0					19																	2438516		2202	4300	6502	SO:0001583	missense	84823					nuclear inner membrane	structural molecule activity	g.chr19:2438516C>T	M94362	CCDS12090.1, CCDS12090.2	19p13.3	2013-01-16			ENSG00000176619	ENSG00000176619		"""Intermediate filaments type V, lamins"""	6638	protein-coding gene	gene with protein product		150341		LMN2		1630457	Standard	NM_032737		Approved		uc002lvy.4	Q03252	OTTHUMG00000150626	ENST00000582871.1:c.355G>A	19.37:g.2438516C>T	ENSP00000462730:p.Glu119Lys					LMNB2_uc002lwa.1_Missense_Mutation_p.E139K	p.E119K	NM_032737	NP_116126	Q03252	LMNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	442	-		Hepatocellular(1079;0.137)	119			Rod.|Coil 1B.		O75292|Q14734|Q96DF6	Missense_Mutation	SNP	ENST00000582871.1	37	c.355G>A		.	.	.	.	.	.	.	.	.	.	C	32	5.156784	0.94686	.	.	ENSG00000176619	ENST00000325327	.	.	.	4.38	4.38	0.52667	Filament (1);	0.224065	0.44688	D	0.000429	T	0.70020	0.3176	L	0.54323	1.7	0.58432	D	0.999999	P	0.39250	0.665	P	0.51516	0.672	T	0.73646	-0.3917	9	0.62326	D	0.03	.	15.5124	0.75793	0.0:1.0:0.0:0.0	.	119	Q03252	LMNB2_HUMAN	K	119	.	ENSP00000327054:E119K	E	-	1	0	LMNB2	2389516	1.000000	0.71417	0.988000	0.46212	0.866000	0.49608	6.049000	0.71053	1.983000	0.57843	0.561000	0.74099	GAG		0.662	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_032737		21	13	0	0	0	0.083992	0	21	13		
PTPRS	5802	broad.mit.edu	37	19	5214591	5214591	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr19:5214591C>T	ENST00000587303.1	-	28	4574	c.4475G>A	c.(4474-4476)cGg>cAg	p.R1492Q	PTPRS_ENST00000588012.1_Missense_Mutation_p.R1454Q|PTPRS_ENST00000592099.1_Missense_Mutation_p.R1045Q|PTPRS_ENST00000348075.2_Missense_Mutation_p.R1454Q|PTPRS_ENST00000353284.2_Missense_Mutation_p.R1045Q|PTPRS_ENST00000357368.4_Missense_Mutation_p.R1492Q|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.R1472Q|PTPRS_ENST00000372412.4_Missense_Mutation_p.R1493Q			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1492	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	CTCCTCCAGCCGCGTCATCAT	0.632																																						uc002mbv.2		NaN																	0				large_intestine(2)|ovary(1)|central_nervous_system(1)	4						c.(4474-4476)CGG>CAG		protein tyrosine phosphatase, receptor type,							59.0	51.0	54.0					19																	5214591		2203	4300	6503	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5214591C>T	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.4475G>A	19.37:g.5214591C>T	ENSP00000467537:p.Arg1492Gln					PTPRS_uc002mbu.1_Missense_Mutation_p.R1061Q|PTPRS_uc010xin.1_Missense_Mutation_p.R1034Q|PTPRS_uc002mbw.2_Missense_Mutation_p.R1454Q|PTPRS_uc002mbx.2_Missense_Mutation_p.R1049Q|PTPRS_uc002mby.2_Missense_Mutation_p.R1045Q	p.R1492Q	NM_002850	NP_002841	Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	29	4709	-			1492			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.4475G>A	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.383913	0.25031	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	3.22	2.17	0.27698	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.194894	0.30227	U	0.010105	T	0.26629	0.0651	L	0.28556	0.865	0.38859	D	0.956441	P;P;D;D;D;D	0.71674	0.913;0.806;0.987;0.995;0.998;0.987	B;B;P;B;P;P	0.53035	0.3;0.054;0.47;0.261;0.716;0.549	T	0.12218	-1.0556	10	0.87932	D	0	.	3.3074	0.07005	0.0:0.5573:0.0:0.4427	.	1074;1045;1049;1454;1492;1087	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	Q	1087;1493;1492;1492;1483;1472;1454;1074;1049;1045	ENSP00000361489:R1493Q;ENSP00000349932:R1492Q;ENSP00000262963:R1472Q;ENSP00000269907:R1454Q;ENSP00000327313:R1045Q	ENSP00000262963:R1472Q	R	-	2	0	PTPRS	5165591	0.991000	0.36638	0.924000	0.36721	0.157000	0.22087	3.513000	0.53414	1.833000	0.53350	0.313000	0.20887	CGG		0.632	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2				19	55	0	0	0	0.204396	0	19	55		
PNPLA6	10908	broad.mit.edu	37	19	7625568	7625568	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr19:7625568G>A	ENST00000221249.6	+	32	4051	c.3620G>A	c.(3619-3621)gGa>gAa	p.G1207E	PNPLA6_ENST00000545201.2_Missense_Mutation_p.G1180E|PNPLA6_ENST00000450331.3_Missense_Mutation_p.G1207E|PNPLA6_ENST00000600737.1_Missense_Mutation_p.G1245E|PNPLA6_ENST00000414982.3_Missense_Mutation_p.G1255E	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1246					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GCGGTGTTTGGAGGCTGGAGC	0.587																																						uc010xjq.1		NaN																	0				ovary(3)	3						c.(3763-3765)GGA>GAA		neuropathy target esterase isoform b							85.0	67.0	73.0					19																	7625568		2203	4300	6503	SO:0001583	missense	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7625568G>A	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.3620G>A	19.37:g.7625568G>A	ENSP00000221249:p.Gly1207Glu					PNPLA6_uc002mgq.1_Missense_Mutation_p.G1207E|PNPLA6_uc010xjp.1_Missense_Mutation_p.G1180E|PNPLA6_uc002mgr.1_Missense_Mutation_p.G1207E|PNPLA6_uc002mgs.2_Missense_Mutation_p.G1245E|PNPLA6_uc002mgt.1_RNA	p.G1255E	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN			31	3959	+			1246			Cytoplasmic (Potential).		A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	37	c.3764G>A	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	g	9.101	1.004034	0.19199	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	T;T;T;T	0.03441	3.93;3.94;3.93;3.93	4.95	3.87	0.44632	.	0.124997	0.56097	D	0.000039	T	0.01870	0.0059	N	0.08118	0	0.34426	D	0.697962	B;B;P;B	0.37083	0.129;0.125;0.581;0.011	B;B;B;B	0.35727	0.103;0.149;0.209;0.007	T	0.35968	-0.9767	10	0.02654	T	1	-25.2156	12.0339	0.53415	0.0:0.3203:0.6797:0.0	.	1246;1180;1245;1207	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	E	1207;1180;1255;1207	ENSP00000221249:G1207E;ENSP00000443323:G1180E;ENSP00000407509:G1255E;ENSP00000394348:G1207E	ENSP00000221249:G1207E	G	+	2	0	PNPLA6	7531568	0.019000	0.18553	1.000000	0.80357	0.698000	0.40448	1.993000	0.40747	2.305000	0.77605	0.549000	0.68633	GGA		0.587	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1		NM_006702		27	20	0	0	0	0.153744	0	27	20		
COL5A3	50509	broad.mit.edu	37	19	10073543	10073543	+	Silent	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr19:10073543G>A	ENST00000264828.3	-	65	4888	c.4803C>T	c.(4801-4803)tcC>tcT	p.S1601S		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1601	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GCTTTTCCTTGGACCAGGAGG	0.532																																						uc002mmq.1		NaN																	0				ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10						c.(4801-4803)TCC>TCT		collagen, type V, alpha 3 preproprotein							51.0	47.0	48.0					19																	10073543		2203	4300	6503	SO:0001819	synonymous_variant	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10073543G>A	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.4803C>T	19.37:g.10073543G>A							p.S1601S	NM_015719	NP_056534	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		65	4889	-			1601			Fibrillar collagen NC1.		Q9NZQ6	Silent	SNP	ENST00000264828.3	37	c.4803C>T	CCDS12222.1																																																																																				0.532	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1		NM_015719		9	14	0	0	0	0.09319	0	9	14		
SMARCA4	6597	broad.mit.edu	37	19	11136115	11136115	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr19:11136115G>C	ENST00000429416.3	+	23	3380	c.3099G>C	c.(3097-3099)aaG>aaC	p.K1033N	SMARCA4_ENST00000413806.3_Missense_Mutation_p.K1033N|SMARCA4_ENST00000444061.3_Missense_Mutation_p.K1033N|SMARCA4_ENST00000344626.4_Missense_Mutation_p.K1033N|SMARCA4_ENST00000541122.2_Missense_Mutation_p.K1033N|SMARCA4_ENST00000589677.1_Missense_Mutation_p.K1033N|SMARCA4_ENST00000358026.2_Missense_Mutation_p.K1033N|SMARCA4_ENST00000590574.1_Missense_Mutation_p.K1033N|SMARCA4_ENST00000450717.3_Missense_Mutation_p.K1033N	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1033					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCGGCACCAAGACCCTGATGA	0.632			"""F, N, Mis"""		NSCLC																																	uc002mqf.3		NaN		Rec	yes		19	19p13.2	6597	F|N|Mis	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67						c.(3097-3099)AAG>AAC		SWI/SNF-related matrix-associated							105.0	86.0	93.0					19																	11136115		2203	4300	6503	SO:0001583	missense	6597	Rhabdoid_Predisposition_syndrome			chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11136115G>C	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3099G>C	19.37:g.11136115G>C	ENSP00000395654:p.Lys1033Asn					SMARCA4_uc010dxp.2_Missense_Mutation_p.K1033N|SMARCA4_uc010dxo.2_Missense_Mutation_p.K1033N|SMARCA4_uc002mqg.1_Missense_Mutation_p.K1033N|SMARCA4_uc010dxq.2_Missense_Mutation_p.K1033N|SMARCA4_uc010dxr.2_Missense_Mutation_p.K1033N|SMARCA4_uc002mqj.3_Missense_Mutation_p.K1033N|SMARCA4_uc010dxs.2_Missense_Mutation_p.K1033N|SMARCA4_uc010dxt.1_Missense_Mutation_p.K253N|SMARCA4_uc002mqh.3_Missense_Mutation_p.K156N|SMARCA4_uc002mqi.1_Missense_Mutation_p.K236N	p.K1033N	NM_003072	NP_003063	P51532	SMCA4_HUMAN			22	3383	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1033					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.3099G>C	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833241	0.71258	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.93247	-3.19;-3.19;-3.19;-3.19;-3.19;-3.19;-3.19	4.79	3.76	0.43208	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.93311	0.7868	L	0.33710	1.025	0.48571	D	0.99967	D;D;D;D;D;D;D;D	0.71674	0.996;0.996;0.996;0.996;0.998;0.997;0.996;0.996	D;D;D;D;D;P;D;D	0.74023	0.978;0.978;0.978;0.978;0.982;0.889;0.978;0.978	D	0.92913	0.6349	10	0.87932	D	0	-47.6478	9.0329	0.36269	0.1778:0.0:0.8222:0.0	.	1033;1033;1033;1033;1033;253;1033;1033	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	N	1033;1033;1097;1033;1033;1033;1033;1033	ENSP00000395654:K1033N;ENSP00000350720:K1033N;ENSP00000343896:K1033N;ENSP00000445036:K1033N;ENSP00000392837:K1033N;ENSP00000397783:K1033N;ENSP00000414727:K1033N	ENSP00000343896:K1033N	K	+	3	2	SMARCA4	10997115	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.820000	0.27323	1.247000	0.43917	0.655000	0.94253	AAG		0.632	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2		NM_003072		29	118	0	0	0	0.214465	0	29	118		
RFX1	5989	broad.mit.edu	37	19	14076445	14076445	+	Silent	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr19:14076445G>A	ENST00000254325.4	-	15	2340	c.2106C>T	c.(2104-2106)ccC>ccT	p.P702P		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	702					immune response (GO:0006955)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			CACTGGGGATGGGCCGCAGCA	0.652																																						uc002mxv.2		NaN																	0				lung(1)|pancreas(1)	2						c.(2104-2106)CCC>CCT		regulatory factor X1							73.0	57.0	62.0					19																	14076445		2202	4300	6502	SO:0001819	synonymous_variant	5989				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:14076445G>A		CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 1"", ""enhancer factor C"", ""MHC class II regulatory factor RFX"""	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.2106C>T	19.37:g.14076445G>A							p.P702P	NM_002918	NP_002909	P22670	RFX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)		15	2378	-			702						Silent	SNP	ENST00000254325.4	37	c.2106C>T	CCDS12301.1																																																																																				0.652	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1		NM_002918		12	43	0	0	0	0.105934	0	12	43		
JAK3	3718	broad.mit.edu	37	19	17948866	17948866	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr19:17948866T>C	ENST00000527670.1	-	11	1605	c.1576A>G	c.(1576-1578)Aac>Gac	p.N526D	JAK3_ENST00000534444.1_Missense_Mutation_p.N526D|JAK3_ENST00000458235.1_Missense_Mutation_p.N526D|JAK3_ENST00000526008.1_5'Flank			P52333	JAK3_HUMAN	Janus kinase 3	526	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	TGGCCCAGGTTCTCATGCTGA	0.587		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	uc002nhn.3		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			acute megakaryocytic leukemia|		0				haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	56						c.(1576-1578)AAC>GAC		Janus kinase 3							88.0	84.0	85.0					19																	17948866		2203	4300	6503	SO:0001583	missense	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17948866T>C	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.1576A>G	19.37:g.17948866T>C	ENSP00000432511:p.Asn526Asp					JAK3_uc010ebh.2_RNA|JAK3_uc002nho.2_Missense_Mutation_p.N526D	p.N526D	NM_000215	NP_000206	P52333	JAK3_HUMAN			12	1676	-			526			Protein kinase 1.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	c.1576A>G	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.205384	0.79127	.	.	ENSG00000105639	ENST00000458235;ENST00000428406;ENST00000527670;ENST00000534444	T;T;T	0.24538	1.85;1.85;1.85	4.93	4.93	0.64822	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.105140	0.64402	D	0.000005	T	0.27967	0.0689	L	0.43152	1.355	0.37246	D	0.906344	P;P	0.50528	0.936;0.889	P;P	0.50192	0.57;0.634	T	0.10520	-1.0626	10	0.11794	T	0.64	-40.616	12.5164	0.56034	0.0:0.0:0.0:1.0	.	526;526	P52333-2;P52333	.;JAK3_HUMAN	D	526	ENSP00000391676:N526D;ENSP00000432511:N526D;ENSP00000436421:N526D	ENSP00000413248:N526D	N	-	1	0	JAK3	17809866	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	7.299000	0.78831	1.852000	0.53769	0.260000	0.18958	AAC		0.587	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1		NM_000215		18	44	0	0	0	0.055883	0	18	44		
HAPLN4	404037	broad.mit.edu	37	19	19369602	19369602	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr19:19369602G>T	ENST00000291481.7	-	4	610	c.547C>A	c.(547-549)Cgc>Agc	p.R183S	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	183	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				cell adhesion (GO:0007155)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)		Hyaluronan(DB08818)	GCGCACGCGCGCTGCGCCTCC	0.706																																						uc002nmb.2		NaN																	0				pancreas(1)	1						c.(547-549)CGC>AGC		hyaluronan and proteoglycan link protein 4							10.0	10.0	10.0					19																	19369602		2177	4253	6430	SO:0001583	missense	404037				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr19:19369602G>T	AB107883	CCDS12398.1	19p13.1	2013-01-11						"""Immunoglobulin superfamily / V-set domain containing"""	31357	protein-coding gene	gene with protein product	"""brain link protein 2"""					12663660	Standard	NM_023002		Approved	BRAL2, KIAA1926	uc002nmb.3	Q86UW8		ENST00000291481.7:c.547C>A	19.37:g.19369602G>T	ENSP00000291481:p.Arg183Ser					HAPLN4_uc002nmc.2_Missense_Mutation_p.R183S	p.R183S	NM_023002	NP_075378	Q86UW8	HPLN4_HUMAN	Epithelial(12;0.00575)		4	602	-			183			Link 1.		A5PKW5|Q96PW2	Missense_Mutation	SNP	ENST00000291481.7	37	c.547C>A	CCDS12398.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953286	0.73902	.	.	ENSG00000187664	ENST00000291481	T	0.10860	2.83	3.97	2.86	0.33363	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.268002	0.31922	N	0.006851	T	0.18923	0.0454	L	0.54323	1.7	0.32659	N	0.518387	P	0.43352	0.804	P	0.51582	0.674	T	0.11690	-1.0577	10	0.72032	D	0.01	-29.4249	11.7019	0.51575	0.0:0.0:0.8234:0.1766	.	183	Q86UW8	HPLN4_HUMAN	S	183	ENSP00000291481:R183S	ENSP00000291481:R183S	R	-	1	0	HAPLN4	19230602	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	2.596000	0.46205	2.055000	0.61198	0.313000	0.20887	CGC		0.706	HAPLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460117.2		NM_023002		11	18	1	0	1.02788e-11	0.160694	1.0806e-11	11	18		
DPY19L3	147991	broad.mit.edu	37	19	32930745	32930745	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr19:32930745C>G	ENST00000342179.5	+	8	999	c.784C>G	c.(784-786)Caa>Gaa	p.Q262E	DPY19L3_ENST00000586987.1_Missense_Mutation_p.Q262E|DPY19L3_ENST00000392250.2_Missense_Mutation_p.Q262E	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	262						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					GCAATTTAATCAATTTATGAT	0.393																																						uc002ntg.2		NaN																	0				ovary(4)	4						c.(784-786)CAA>GAA		dpy-19-like 3							134.0	124.0	128.0					19																	32930745		2203	4300	6503	SO:0001583	missense	147991					integral to membrane		g.chr19:32930745C>G		CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.784C>G	19.37:g.32930745C>G	ENSP00000344937:p.Gln262Glu					DPY19L3_uc002nth.1_Missense_Mutation_p.Q262E|DPY19L3_uc002nti.1_RNA	p.Q262E	NM_207325	NP_997208	Q6ZPD9	D19L3_HUMAN			8	960	+	Esophageal squamous(110;0.162)		262			Helical; (Potential).		Q68DC7|Q6ZTB7|Q6ZTS2	Missense_Mutation	SNP	ENST00000342179.5	37	c.784C>G	CCDS12422.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.401394	0.83120	.	.	ENSG00000178904	ENST00000392250;ENST00000319326;ENST00000342179	T;T	0.56776	0.44;0.44	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.66548	0.2800	M	0.84082	2.675	0.53688	D	0.999973	P	0.44090	0.826	P	0.47603	0.551	T	0.70806	-0.4772	10	0.56958	D	0.05	-12.3947	17.9754	0.89126	0.0:1.0:0.0:0.0	.	262	Q6ZPD9	D19L3_HUMAN	E	262	ENSP00000376081:Q262E;ENSP00000344937:Q262E	ENSP00000315672:Q262E	Q	+	1	0	DPY19L3	37622585	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.492000	0.81482	2.679000	0.91253	0.557000	0.71058	CAA		0.393	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450311.1		NM_207325		44	48	0	0	0	0.139131	0	44	48		
APLP1	333	broad.mit.edu	37	19	36370075	36370075	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr19:36370075C>A	ENST00000221891.4	+	16	2005	c.1813C>A	c.(1813-1815)Cgc>Agc	p.R605S	APLP1_ENST00000586861.1_Missense_Mutation_p.R598S|APLP1_ENST00000537454.2_Missense_Mutation_p.R565S|RN7SL402P_ENST00000465059.1_RNA	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	604					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCTGCTCCTGCGCAGGAAGAA	0.657																																						uc002oce.2		NaN																	0				ovary(2)	2						c.(1810-1812)CGC>AGC		amyloid precursor-like protein 1 isoform 2							58.0	58.0	58.0					19																	36370075		2203	4300	6503	SO:0001583	missense	333				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding	g.chr19:36370075C>A	U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"""amyloid-like protein 1"", ""amyloid precursor-like protein 1"""	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.1813C>A	19.37:g.36370075C>A	ENSP00000221891:p.Arg605Ser					APLP1_uc010xsz.1_Missense_Mutation_p.R565S|APLP1_uc002ocf.2_Missense_Mutation_p.R605S|APLP1_uc002ocg.2_Missense_Mutation_p.R508S|APLP1_uc010xta.1_Missense_Mutation_p.R598S	p.R604S	NM_005166	NP_005157	P51693	APLP1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		16	1948	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		604			Cytoplasmic (Potential).|Basolateral sorting signal (By similarity).		O00113|Q96A92	Missense_Mutation	SNP	ENST00000221891.4	37	c.1810C>A	CCDS32997.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140010	0.77775	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	D;D	0.97041	-4.22;-4.22	5.06	4.01	0.46588	Beta-amyloid precursor protein C-terminal (1);	0.411149	0.18273	N	0.146256	D	0.98036	0.9353	M	0.77103	2.36	0.53005	D	0.999968	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.999	D	0.97894	1.0299	10	0.87932	D	0	-18.1004	10.8384	0.46700	0.189:0.811:0.0:0.0	.	598;565;605;604	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	S	565;605	ENSP00000441501:R565S;ENSP00000221891:R605S	ENSP00000221891:R605S	R	+	1	0	APLP1	41061915	1.000000	0.71417	0.963000	0.40424	0.885000	0.51271	3.044000	0.49830	1.095000	0.41419	-0.181000	0.13052	CGC		0.657	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1		NM_001024807		23	107	1	0	1.85244e-09	0.083992	1.91672e-09	23	107		
MEGF8	1954	broad.mit.edu	37	19	42880156	42880156	+	Silent	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr19:42880156C>T	ENST00000251268.6	+	42	7767	c.7767C>T	c.(7765-7767)gtC>gtT	p.V2589V	MEGF8_ENST00000334370.4_Silent_p.V2522V|MEGF8_ENST00000378073.4_Silent_p.V183V	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2589					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TGCTGGTGGTCCGCGGCGTGC	0.692																																						uc002otl.3		NaN																	0				ovary(1)	1						c.(7564-7566)GTC>GTT		multiple EGF-like-domains 8							46.0	48.0	47.0					19																	42880156		2177	4271	6448	SO:0001819	synonymous_variant	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42880156C>T	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.7767C>T	19.37:g.42880156C>T						MEGF8_uc002otm.3_Silent_p.V2130V|MEGF8_uc002otn.3_Silent_p.V183V	p.V2522V	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN			41	8201	+		Prostate(69;0.00682)	2589			Extracellular (Potential).		A8KAY0|O75097	Silent	SNP	ENST00000251268.6	37	c.7566C>T																																																																																					0.692	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1		NM_001410		87	149	0	0	0	0.139131	0	87	149		
RSPH6A	81492	broad.mit.edu	37	19	46308019	46308019	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr19:46308019C>G	ENST00000221538.3	-	3	1286	c.1144G>C	c.(1144-1146)Gag>Cag	p.E382Q	RSPH6A_ENST00000600188.1_Missense_Mutation_p.E118Q|RSPH6A_ENST00000597055.1_Missense_Mutation_p.E382Q	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	382	Glu-rich.					intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						tccATGACCTCGCCACCTTCC	0.657																																						uc002pdm.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1144-1146)GAG>CAG		radial spokehead-like 1							80.0	66.0	70.0					19																	46308019		2203	4300	6503	SO:0001583	missense	81492					intracellular		g.chr19:46308019C>G	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.1144G>C	19.37:g.46308019C>G	ENSP00000221538:p.Glu382Gln					RSPH6A_uc002pdl.2_Missense_Mutation_p.E118Q	p.E382Q	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN			3	1287	-			382			Glu-rich.		Q53FE2|Q6PEZ9	Missense_Mutation	SNP	ENST00000221538.3	37	c.1144G>C	CCDS12675.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.537263	0.45176	.	.	ENSG00000104941	ENST00000221538	T	0.18174	2.23	3.99	3.99	0.46301	.	0.615988	0.16932	N	0.193622	T	0.37919	0.1021	M	0.76574	2.34	0.36738	D	0.882075	D	0.69078	0.997	D	0.64687	0.928	T	0.38394	-0.9663	10	0.49607	T	0.09	-12.2764	11.9295	0.52839	0.0:1.0:0.0:0.0	.	382	Q9H0K4	RSH6A_HUMAN	Q	382	ENSP00000221538:E382Q	ENSP00000221538:E382Q	E	-	1	0	RSPH6A	50999859	1.000000	0.71417	0.185000	0.23176	0.043000	0.13939	4.946000	0.63576	2.509000	0.84616	0.456000	0.33151	GAG		0.657	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1				12	20	0	0	0	0.105934	0	12	20		
LIG1	3978	broad.mit.edu	37	19	48634393	48634393	+	Silent	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr19:48634393G>A	ENST00000263274.7	-	19	2180	c.1761C>T	c.(1759-1761)ttC>ttT	p.F587F	LIG1_ENST00000536218.1_Silent_p.F519F|LIG1_ENST00000427526.2_Silent_p.F556F	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	587					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	GATTCCTGCTGAAGATCTTCA	0.577								Nucleotide excision repair (NER)																														uc002pia.1		NaN																	0				large_intestine(2)|lung(1)	3						c.(1759-1761)TTC>TTT	NER	DNA ligase I	Bleomycin(DB00290)						218.0	143.0	168.0					19																	48634393		2203	4300	6503	SO:0001819	synonymous_variant	3978				anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	g.chr19:48634393G>A		CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.1761C>T	19.37:g.48634393G>A						LIG1_uc010xze.1_Silent_p.F280F|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Silent_p.F519F|LIG1_uc010xzg.1_Silent_p.F556F	p.F587F	NM_000234	NP_000225	P18858	DNLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	19	1881	-		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	587					B2RAI8|Q2TB12|Q32P23	Silent	SNP	ENST00000263274.7	37	c.1761C>T	CCDS12711.1																																																																																				0.577	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1		NM_000234		7	117	0	0	0	0.047766	0	7	117		
DBP	1628	broad.mit.edu	37	19	49134232	49134232	+	Missense_Mutation	SNP	C	C	G	rs556597704	byFrequency	TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr19:49134232C>G	ENST00000222122.5	-	4	1283	c.840G>C	c.(838-840)gaG>gaC	p.E280D	DBP_ENST00000599385.1_Missense_Mutation_p.E78D|DBP_ENST00000593500.1_Missense_Mutation_p.E78D	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box) binding protein	280	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				liver development (GO:0001889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|rhythmic process (GO:0048511)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		ATATCTGGTTCTCCTTGAGCC	0.652																																						uc002pjx.3		NaN																	0					0						c.(838-840)GAG>GAC		D site of albumin promoter (albumin D-box)							28.0	30.0	29.0					19																	49134232		2203	4300	6503	SO:0001583	missense	1628				regulation of transcription from RNA polymerase II promoter|rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:49134232C>G	U06936	CCDS12728.1	19q13.33	2013-09-20			ENSG00000105516	ENSG00000105516			2697	protein-coding gene	gene with protein product		124097				1535333, 7835883	Standard	XR_243907		Approved	DABP	uc002pjx.4	Q10586	OTTHUMG00000183319	ENST00000222122.5:c.840G>C	19.37:g.49134232C>G	ENSP00000222122:p.Glu280Asp					DBP_uc002pjy.2_3'UTR	p.E280D	NM_001352	NP_001343	Q10586	DBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)	4	1228	-		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)	280					A2I2P4	Missense_Mutation	SNP	ENST00000222122.5	37	c.840G>C	CCDS12728.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.353399	0.82243	.	.	ENSG00000105516	ENST00000222122	T	0.46819	0.86	4.81	2.68	0.31781	Basic-leucine zipper (bZIP) transcription factor (2);Basic leucine zipper (1);	0.000000	0.85682	U	0.000000	T	0.56761	0.2007	L	0.45137	1.4	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56117	-0.8032	10	0.87932	D	0	-28.9071	9.2872	0.37764	0.0:0.8199:0.0:0.1801	.	280	Q10586	DBP_HUMAN	D	280	ENSP00000222122:E280D	ENSP00000222122:E280D	E	-	3	2	DBP	53826044	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.484000	0.45242	0.554000	0.29061	0.563000	0.77884	GAG		0.652	DBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466167.1		NM_001352		24	33	0	0	0	0.163468	0	24	33		
RASIP1	54922	broad.mit.edu	37	19	49224075	49224075	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr19:49224075G>C	ENST00000222145.4	-	12	3076	c.2872C>G	c.(2872-2874)Ccc>Gcc	p.P958A	MAMSTR_ENST00000377367.3_5'Flank|MAMSTR_ENST00000419611.1_5'Flank|MAMSTR_ENST00000318083.6_5'Flank	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	958					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		GTGGCCACGGGAGGCCCATGG	0.602																																						uc002pki.2		NaN																	0				pancreas(1)	1						c.(2872-2874)CCC>GCC		Ras-interacting protein 1							97.0	101.0	100.0					19																	49224075		2203	4300	6503	SO:0001583	missense	54922				signal transduction	Golgi stack|perinuclear region of cytoplasm		g.chr19:49224075G>C	BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.2872C>G	19.37:g.49224075G>C	ENSP00000222145:p.Pro958Ala					MAMSTR_uc002pkg.2_5'Flank|RASIP1_uc002pkh.2_Missense_Mutation_p.P219A	p.P958A	NM_017805	NP_060275	Q5U651	RAIN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)	12	3069	-		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	958					Q6U676	Missense_Mutation	SNP	ENST00000222145.4	37	c.2872C>G	CCDS12731.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966260	0.74131	.	.	ENSG00000105538	ENST00000222145	T	0.28069	1.63	5.5	5.5	0.81552	.	0.240147	0.28635	N	0.014641	T	0.22742	0.0549	N	0.22421	0.69	0.32436	N	0.547325	B	0.19073	0.033	B	0.19666	0.026	T	0.12243	-1.0555	10	0.24483	T	0.36	-17.5709	15.2701	0.73693	0.0:0.0:1.0:0.0	.	958	Q5U651	RAIN_HUMAN	A	958	ENSP00000222145:P958A	ENSP00000222145:P958A	P	-	1	0	RASIP1	53915887	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	2.600000	0.46240	2.771000	0.95319	0.655000	0.94253	CCC		0.602	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466185.1		NM_017805		87	150	0	0	0	0.139131	0	87	150		
AP2A1	160	broad.mit.edu	37	19	50302947	50302947	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr19:50302947G>A	ENST00000359032.5	+	10	1196	c.1196G>A	c.(1195-1197)cGg>cAg	p.R399Q	AP2A1_ENST00000354293.5_Missense_Mutation_p.R399Q	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	399					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		ATGTGTGACCGGAGCAATGCC	0.647																																						uc002ppn.2		NaN																	0				ovary(2)	2						c.(1195-1197)CGG>CAG		adaptor-related protein complex 2, alpha 1							58.0	64.0	62.0					19																	50302947		2202	4300	6502	SO:0001583	missense	160				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity	g.chr19:50302947G>A	AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.1196G>A	19.37:g.50302947G>A	ENSP00000351926:p.Arg399Gln					AP2A1_uc010enj.1_RNA|AP2A1_uc002ppo.2_Missense_Mutation_p.R399Q|AP2A1_uc002ppp.1_5'Flank	p.R399Q	NM_014203	NP_055018	O95782	AP2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)	10	1407	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	399					Q96CI7|Q96PP6|Q96PP7|Q9H070	Missense_Mutation	SNP	ENST00000359032.5	37	c.1196G>A	CCDS46148.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406062	0.83230	.	.	ENSG00000196961	ENST00000354293;ENST00000359032	T;T	0.36340	1.26;1.26	4.52	4.52	0.55395	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.31796	0.0808	L	0.37750	1.13	0.80722	D	1	P;P	0.35139	0.482;0.486	B;B	0.38020	0.263;0.18	T	0.06427	-1.0827	10	0.22109	T	0.4	.	16.1546	0.81649	0.0:0.0:1.0:0.0	.	399;399	O95782-2;O95782	.;AP2A1_HUMAN	Q	399	ENSP00000346246:R399Q;ENSP00000351926:R399Q	ENSP00000346246:R399Q	R	+	2	0	AP2A1	54994759	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.306000	0.96204	2.345000	0.79718	0.561000	0.74099	CGG		0.647	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465809.1				83	136	0	0	0	0.139131	0	83	136		
ZNF761	388561	broad.mit.edu	37	19	53959831	53959831	+	RNA	SNP	T	T	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr19:53959831T>C	ENST00000454407.1	+	0	2523							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AGAAACCTTATAAGTGTAATG	0.393																																						uc010eqp.2		NaN																	0				ovary(1)	1						c.(2068-2070)TAT>TAC		zinc finger protein 761							92.0	95.0	94.0					19																	53959831		2202	4300	6502			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53959831T>C	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53959831T>C						ZNF761_uc010ydy.1_Silent_p.Y636Y|ZNF761_uc002qbt.1_Silent_p.Y636Y	p.Y690Y	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	7	2528	+			690			C2H2-type 18.		Q6ZNB9	Silent	SNP	ENST00000454407.1	37	c.2070T>C																																																																																					0.393	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript			NM_001008401		5	75	0	0	0	0.184627	0	5	75		
TTYH1	57348	broad.mit.edu	37	19	54932494	54932494	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr19:54932494G>A	ENST00000376530.3	+	3	452	c.349G>A	c.(349-351)Gat>Aat	p.D117N	TTYH1_ENST00000391739.3_Missense_Mutation_p.D166N|TTYH1_ENST00000301194.4_Missense_Mutation_p.D117N|TTYH1_ENST00000376531.3_Missense_Mutation_p.D117N	NM_001201461.1|NM_020659.3	NP_001188390.1|NP_065710.1	Q9H313	TTYH1_HUMAN	tweety family member 1	117					cell-substrate adhesion (GO:0031589)|chloride transport (GO:0006821)|filopodium assembly (GO:0046847)|ion transmembrane transport (GO:0034220)|iron ion transmembrane transport (GO:0034755)|iron ion transport (GO:0006826)|mitotic nuclear division (GO:0007067)|regulation of anion transport (GO:0044070)|single organismal cell-cell adhesion (GO:0016337)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|filopodium membrane (GO:0031527)|filopodium tip (GO:0032433)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum membrane (GO:0030868)	calcium ion binding (GO:0005509)|iron ion transmembrane transporter activity (GO:0005381)|volume-sensitive chloride channel activity (GO:0072320)			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		TGAGACCAGTGATGGGGTGTC	0.637																																						uc002qfq.2		NaN																	0					0						c.(349-351)GAT>AAT		tweety 1 isoform 1							125.0	102.0	109.0					19																	54932494		2203	4300	6503	SO:0001583	missense	57348				cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity	g.chr19:54932494G>A	AF177909	CCDS12893.1, CCDS33106.1, CCDS56102.1	19q13.4	2013-09-02	2013-09-02		ENSG00000167614	ENSG00000167614			13476	protein-coding gene	gene with protein product		605784	"""tweety (Drosophila) homolog 1"", ""tweety homolog 1 (Drosophila)"""			10950931	Standard	NM_020659		Approved		uc002qfr.3	Q9H313	OTTHUMG00000065544	ENST00000376530.3:c.349G>A	19.37:g.54932494G>A	ENSP00000365713:p.Asp117Asn					TTYH1_uc010yey.1_Missense_Mutation_p.D166N|TTYH1_uc002qfr.2_Missense_Mutation_p.D117N|TTYH1_uc002qft.2_Missense_Mutation_p.D117N|TTYH1_uc002qfu.1_Missense_Mutation_p.D32N	p.D117N	NM_020659	NP_065710	Q9H313	TTYH1_HUMAN		GBM - Glioblastoma multiforme(193;0.0767)	3	441	+	Ovarian(34;0.19)		117			Extracellular (Potential).		B0VJY3|B0VJY4|B0VJY5|B2VAL9|Q5U682|Q68A17|Q6L750|Q6ZTE5|Q8WUU2	Missense_Mutation	SNP	ENST00000376530.3	37	c.349G>A	CCDS12893.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.501117	0.85176	.	.	ENSG00000167614	ENST00000444661;ENST00000423529;ENST00000301194;ENST00000376530;ENST00000445095;ENST00000391739;ENST00000376531	T;T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48;2.48	3.75	3.75	0.43078	.	0.000000	0.85682	D	0.000000	T	0.30603	0.0770	M	0.62723	1.935	0.58432	D	0.999996	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.997	T	0.05037	-1.0910	10	0.17369	T	0.5	-16.9003	13.8879	0.63719	0.0:0.0:1.0:0.0	.	166;32;117;117;117	B7Z1H9;Q9H313-5;Q9H313-2;Q9H313-3;Q9H313	.;.;.;.;TTYH1_HUMAN	N	89;113;117;117;166;166;117	ENSP00000391282:D113N;ENSP00000301194:D117N;ENSP00000365713:D117N;ENSP00000393592:D166N;ENSP00000375619:D166N;ENSP00000365714:D117N	ENSP00000301194:D117N	D	+	1	0	TTYH1	59624306	1.000000	0.71417	0.988000	0.46212	0.981000	0.71138	8.676000	0.91199	2.021000	0.59480	0.655000	0.94253	GAT		0.637	TTYH1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140498.1				36	164	0	0	0	0.124865	0	36	164		
ZNF550	162972	broad.mit.edu	37	19	58058953	58058953	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr19:58058953C>T	ENST00000457177.1	-	4	839	c.659G>A	c.(658-660)cGa>cAa	p.R220Q	ZNF550_ENST00000325134.5_Missense_Mutation_p.R188Q|ZNF550_ENST00000506609.2_Missense_Mutation_p.R179Q|ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF550_ENST00000601415.1_Intron			Q7Z398	ZN550_HUMAN	zinc finger protein 550	220					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCTCTGATGTCGAACGAGATA	0.483																																						uc002qpe.1		NaN																	0					0						c.(535-537)CGA>CAA		zinc finger protein 550							189.0	156.0	167.0					19																	58058953		2203	4300	6503	SO:0001583	missense	162972				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58058953C>T	AL833214	CCDS35500.1, CCDS35500.2	19q13.43	2013-05-22			ENSG00000251369	ENSG00000251369		"""Zinc fingers, C2H2-type"""	28643	protein-coding gene	gene with protein product						12477932	Standard	NM_001277090		Approved	MGC41917	uc002qpd.4	Q7Z398	OTTHUMG00000133709	ENST00000457177.1:c.659G>A	19.37:g.58058953C>T	ENSP00000469679:p.Arg220Gln					ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF550_uc002qpc.2_RNA|ZNF550_uc010eue.1_RNA|ZNF550_uc002qpd.2_RNA	p.R179Q	NM_001039654	NP_001034743	Q7Z398	ZN550_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	2	536	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	220			C2H2-type 1.		B3KVF6|O43337|Q7Z6D7|Q8NE45	Missense_Mutation	SNP	ENST00000457177.1	37	c.536G>A		.	.	.	.	.	.	.	.	.	.	C	11.97	1.798592	0.31777	.	.	ENSG00000251369	ENST00000344222;ENST00000325134;ENST00000506609	T;T	0.07216	3.21;3.21	3.46	1.22	0.21188	.	.	.	.	.	T	0.03434	0.0099	L	0.31371	0.925	0.09310	N	1	P	0.37548	0.599	B	0.19946	0.027	T	0.31779	-0.9931	9	0.02654	T	1	.	5.6155	0.17428	0.1955:0.693:0.0:0.1115	.	188	Q7Z398-2	.	Q	220;188;179	ENSP00000446224:R188Q;ENSP00000422344:R179Q	ENSP00000446224:R188Q	R	-	2	0	AC003682.1	62750765	0.000000	0.05858	0.173000	0.22940	0.995000	0.86356	-3.561000	0.00430	0.253000	0.21552	0.655000	0.94253	CGA		0.483	ZNF550-001	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000257992.2		NM_153231		42	65	0	0	0	0.139131	0	42	65		
ZSCAN22	342945	broad.mit.edu	37	19	58846394	58846394	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr19:58846394C>G	ENST00000329665.4	+	2	373	c.226C>G	c.(226-228)Cag>Gag	p.Q76E		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	76	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		GCTGTGCTGTCAGTGGCTGCA	0.657																																						uc002qsc.2		NaN																	0				pancreas(1)	1						c.(226-228)CAG>GAG		zinc finger and SCAN domain containing 22							45.0	46.0	45.0					19																	58846394		2203	4300	6503	SO:0001583	missense	342945				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58846394C>G	M20675	CCDS12975.1	19q13.43	2013-01-08	2006-09-20	2006-09-20				"""-"", ""Zinc fingers, C2H2-type"""	4929	protein-coding gene	gene with protein product	"""oncogene HKR2"""	165260	"""zinc finger protein 50"", ""GLI-Kruppel family member HKR2"""	ZNF50, HKR2		2850480, 1505991	Standard	NM_181846		Approved		uc002qsc.2	P10073		ENST00000329665.4:c.226C>G	19.37:g.58846394C>G	ENSP00000332433:p.Gln76Glu					ZSCAN22_uc010yhz.1_Missense_Mutation_p.Q76E	p.Q76E	NM_181846	NP_862829	P10073	ZSC22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)	2	373	+		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	76			SCAN box.		Q15922|Q7Z3L8	Missense_Mutation	SNP	ENST00000329665.4	37	c.226C>G	CCDS12975.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.990712	0.54041	.	.	ENSG00000182318	ENST00000329665	T	0.04603	3.59	4.01	4.01	0.46588	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.17831	0.0428	M	0.81341	2.54	0.35224	D	0.776259	D	0.61080	0.989	P	0.61533	0.89	T	0.10474	-1.0628	9	0.41790	T	0.15	.	11.8321	0.52301	0.0:1.0:0.0:0.0	.	76	P10073	ZSC22_HUMAN	E	76	ENSP00000332433:Q76E	ENSP00000332433:Q76E	Q	+	1	0	ZSCAN22	63538206	0.037000	0.19845	0.987000	0.45799	0.206000	0.24218	0.611000	0.24268	2.252000	0.74401	0.591000	0.81541	CAG		0.657	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466765.1		NM_181846		11	128	0	0	0	0.09319	0	11	128		
LPIN1	23175	broad.mit.edu	37	2	11964910	11964910	+	Missense_Mutation	SNP	C	C	T	rs374190632		TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr2:11964910C>T	ENST00000256720.2	+	20	2759	c.2666C>T	c.(2665-2667)tCa>tTa	p.S889L	LPIN1_ENST00000396099.1_Missense_Mutation_p.S931L|LPIN1_ENST00000449576.2_Missense_Mutation_p.S974L|LPIN1_ENST00000425416.2_Missense_Mutation_p.S895L|LPIN1_ENST00000396097.1_Missense_Mutation_p.S619L|LPIN1_ENST00000404113.2_Missense_Mutation_p.S390L	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	889					cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		CATTCTGCCTCAGCGTAAAAT	0.517													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19088	0.0		0.0	False		,,,				2504	0.0					uc010yjn.1		NaN																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(2665-2667)TCA>TTA		lipin 1		C	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	86.0	88.0	87.0		2666	5.9	0.4	2		87	0,8600		0,0,4300	no	missense	LPIN1	NM_145693.1	145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	889/891	11964910	1,13005	2203	4300	6503	SO:0001583	missense	23175				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	g.chr2:11964910C>T	D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.2666C>T	2.37:g.11964910C>T	ENSP00000256720:p.Ser889Leu					LPIN1_uc010yjm.1_Missense_Mutation_p.S974L|LPIN1_uc002rbt.2_Missense_Mutation_p.S889L|LPIN1_uc010yjo.1_Missense_Mutation_p.S390L	p.S889L	NM_145693	NP_663731	Q14693	LPIN1_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)	21	2940	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		889					A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	37	c.2666C>T	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.561920	0.45590	2.27E-4	0.0	ENSG00000134324	ENST00000449576;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097;ENST00000404113	D;D;D;D;T;T	0.82081	-1.57;-1.52;-1.51;-1.5;-1.34;-0.54	5.95	5.95	0.96441	.	0.153499	0.46442	D	0.000299	D	0.84561	0.5499	L	0.29908	0.895	0.18873	N	0.999985	B;D;D	0.67145	0.005;0.996;0.993	B;D;D	0.77557	0.005;0.99;0.977	T	0.77245	-0.2659	10	0.87932	D	0	-13.8395	9.4484	0.38712	0.1438:0.7853:0.0:0.071	.	390;974;889	B4DET9;F5GY24;Q14693	.;.;LPIN1_HUMAN	L	974;931;895;889;619;390	ENSP00000397908:S974L;ENSP00000379406:S931L;ENSP00000401522:S895L;ENSP00000256720:S889L;ENSP00000379404:S619L;ENSP00000386120:S390L	ENSP00000256720:S889L	S	+	2	0	LPIN1	11882361	0.719000	0.27986	0.450000	0.26969	0.027000	0.11550	2.563000	0.45922	2.824000	0.97209	0.655000	0.94253	TCA		0.517	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3		NM_145693		12	35	0	0	0	0.146539	0	12	35		
TRIB2	28951	broad.mit.edu	37	2	12880633	12880633	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr2:12880633G>A	ENST00000155926.4	+	3	2164	c.745G>A	c.(745-747)Gtg>Atg	p.V249M	TRIB2_ENST00000381465.2_Missense_Mutation_p.V113M	NM_021643.3	NP_067675.1			tribbles pseudokinase 2											breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CACCATGTTGGTGGGGCGGTA	0.582																																						uc002rbv.3		NaN																	0				stomach(1)	1						c.(745-747)GTG>ATG		tribbles homolog 2							103.0	75.0	84.0					2																	12880633		2203	4300	6503	SO:0001583	missense	28951				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr2:12880633G>A	AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575			30809	protein-coding gene	gene with protein product		609462	"""tribbles homolog 2 (Drosophila)"""			12736262, 17097562, 16715410	Standard	NM_021643		Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	ENST00000155926.4:c.745G>A	2.37:g.12880633G>A	ENSP00000155926:p.Val249Met					TRIB2_uc010yjp.1_Missense_Mutation_p.V113M	p.V249M	NM_021643	NP_067675	Q92519	TRIB2_HUMAN			3	2181	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		249			Protein kinase.			Missense_Mutation	SNP	ENST00000155926.4	37	c.745G>A	CCDS1683.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267020	0.80469	.	.	ENSG00000071575	ENST00000155926;ENST00000381465	T;T	0.74106	-0.81;-0.81	5.94	5.94	0.96194	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.052604	0.85682	D	0.000000	D	0.87625	0.6224	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87987	0.2747	10	0.72032	D	0.01	-10.7409	19.354	0.94404	0.0:0.0:1.0:0.0	.	249	Q92519	TRIB2_HUMAN	M	249;113	ENSP00000155926:V249M;ENSP00000370874:V113M	ENSP00000155926:V249M	V	+	1	0	TRIB2	12798084	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	8.004000	0.88535	2.820000	0.97059	0.650000	0.86243	GTG		0.582	TRIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207114.2		NM_021643		32	22	0	0	0	0.080422	0	32	22		
APOB	338	broad.mit.edu	37	2	21224807	21224807	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr2:21224807C>G	ENST00000233242.1	-	29	13614	c.13487G>C	c.(13486-13488)aGa>aCa	p.R4496T	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4496					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGTTTATATCTAAACTGCTG	0.363																																						uc002red.2		NaN																	0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(13486-13488)AGA>ACA		apolipoprotein B precursor	Atorvastatin(DB01076)						91.0	100.0	97.0					2																	21224807		2202	4300	6502	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21224807C>G	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.13487G>C	2.37:g.21224807C>G	ENSP00000233242:p.Arg4496Thr						p.R4496T	NM_000384	NP_000375	P04114	APOB_HUMAN			29	13615	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		4496					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.13487G>C	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.449533	0.43531	.	.	ENSG00000084674	ENST00000233242	T	0.35789	1.29	5.57	-4.64	0.03349	.	0.777423	0.11503	N	0.557472	T	0.08582	0.0213	N	0.00926	-1.1	0.09310	N	0.999995	B	0.14438	0.01	B	0.15052	0.012	T	0.20706	-1.0267	10	0.33940	T	0.23	.	1.473	0.02420	0.2088:0.1122:0.3416:0.3374	.	4496	P04114	APOB_HUMAN	T	4496	ENSP00000233242:R4496T	ENSP00000233242:R4496T	R	-	2	0	APOB	21078312	0.001000	0.12720	0.106000	0.21319	0.909000	0.53808	-0.385000	0.07379	-0.489000	0.06716	0.591000	0.81541	AGA		0.363	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1				11	38	0	0	0	0.080935	0	11	38		
C2orf16	84226	broad.mit.edu	37	2	27800241	27800241	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr2:27800241G>A	ENST00000408964.2	+	1	853	c.802G>A	c.(802-804)Gaa>Aaa	p.E268K		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	268						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GATTACTCCGGAACTCAAGCA	0.463																																						uc002rkz.3		NaN																	0				large_intestine(1)	1						c.(802-804)GAA>AAA		hypothetical protein LOC84226							89.0	88.0	88.0					2																	27800241		1930	4132	6062	SO:0001583	missense	84226							g.chr2:27800241G>A	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.802G>A	2.37:g.27800241G>A	ENSP00000386190:p.Glu268Lys						p.E268K	NM_032266	NP_115642	Q68DN1	CB016_HUMAN			1	853	+	Acute lymphoblastic leukemia(172;0.155)		268					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.802G>A	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805169	0.50315	.	.	ENSG00000221843	ENST00000408964	T	0.09073	3.02	4.71	0.692	0.18050	.	.	.	.	.	T	0.04227	0.0117	L	0.27053	0.805	0.09310	N	1	P	0.42518	0.782	B	0.35278	0.199	T	0.39440	-0.9614	9	0.16420	T	0.52	.	4.5402	0.12054	0.2748:0.1651:0.5601:0.0	.	268	Q68DN1	CB016_HUMAN	K	268	ENSP00000386190:E268K	ENSP00000386190:E268K	E	+	1	0	C2orf16	27653745	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	0.253000	0.18296	-0.057000	0.13199	0.563000	0.77884	GAA		0.463	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1		NM_032266		27	37	0	0	0	0.193644	0	27	37		
PLEKHH2	130271	broad.mit.edu	37	2	43991401	43991401	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr2:43991401T>C	ENST00000282406.4	+	29	4303	c.4193T>C	c.(4192-4194)aTg>aCg	p.M1398T		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1398	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AAGAGTCTAATGACCTTTGGA	0.328																																						uc010yny.1		NaN																	0				skin(2)|central_nervous_system(1)	3						c.(4192-4194)ATG>ACG		pleckstrin homology domain containing, family H							84.0	89.0	87.0					2																	43991401		2203	4300	6503	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43991401T>C	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.4193T>C	2.37:g.43991401T>C	ENSP00000282406:p.Met1398Thr						p.M1398T	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN			29	4276	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	1398			FERM.		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.4193T>C	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	T	12.65	2.001287	0.35320	.	.	ENSG00000152527	ENST00000282406	T	0.73047	-0.71	5.76	5.76	0.90799	FERM domain (1);	0.078186	0.85682	D	0.000000	T	0.63189	0.2490	L	0.45137	1.4	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.58250	-0.7669	10	0.18276	T	0.48	-28.6339	16.0677	0.80897	0.0:0.0:0.0:1.0	.	1398	Q8IVE3	PKHH2_HUMAN	T	1398	ENSP00000282406:M1398T	ENSP00000282406:M1398T	M	+	2	0	PLEKHH2	43844905	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.623000	0.61247	2.185000	0.69588	0.460000	0.39030	ATG		0.328	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1		NM_172069		16	19	0	0	0	0.189662	0	16	19		
RHOQ	23433	broad.mit.edu	37	2	46770291	46770291	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr2:46770291G>A	ENST00000238738.4	+	1	425	c.106G>A	c.(106-108)Gag>Aag	p.E36K	ATP6V1E2_ENST00000522587.1_5'Flank|RHOQ_ENST00000465198.1_Intron|ATP6V1E2_ENST00000505245.2_5'Flank	NM_012249.3	NP_036381.2	P17081	RHOQ_HUMAN	ras homolog family member Q	36					cellular response to insulin stimulus (GO:0032869)|cortical actin cytoskeleton organization (GO:0030866)|GTP catabolic process (GO:0006184)|insulin receptor signaling pathway (GO:0008286)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin filament (GO:0005884)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	GBD domain binding (GO:0032427)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|profilin binding (GO:0005522)			skin(2)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CGCCTTCCCGGAGGAGTACGT	0.652																																						uc002rva.2		NaN																	0				skin(2)	2						c.(106-108)GAG>AAG		ras-like protein TC10 precursor							73.0	74.0	74.0					2																	46770291		2203	4300	6503	SO:0001583	missense	23433				cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of glucose import|positive regulation of transcription from RNA polymerase II promoter|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	actin filament|cytosol|plasma membrane	GBD domain binding|GTP binding|GTPase activity|profilin binding	g.chr2:46770291G>A	M31470	CCDS33191.1	2p21	2012-02-27	2012-02-27	2004-03-24	ENSG00000119729	ENSG00000119729			17736	protein-coding gene	gene with protein product		605857	"""RAS-like, family 7, member A"", ""ras homolog gene family, member Q"""	RASL7A, ARHQ		2108320	Standard	NM_012249		Approved	TC10	uc002rva.3	P17081	OTTHUMG00000150653	ENST00000238738.4:c.106G>A	2.37:g.46770291G>A	ENSP00000238738:p.Glu36Lys					ATP6V1E2_uc002ruz.2_5'Flank	p.E36K	NM_012249	NP_036381	P17081	RHOQ_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		1	425	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	36					D6W5A6|Q0VGN1|Q52LS8|Q53SJ1|Q6NS39|Q6P146|Q7Z480	Missense_Mutation	SNP	ENST00000238738.4	37	c.106G>A	CCDS33191.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.176148	0.57692	.	.	ENSG00000119729	ENST00000238738	T	0.77620	-1.11	4.01	3.11	0.35812	Small GTP-binding protein domain (1);	0.000000	0.56097	U	0.000029	T	0.69824	0.3154	L	0.46947	1.48	0.45777	D	0.998661	B	0.21606	0.058	B	0.11329	0.006	T	0.66767	-0.5840	10	0.87932	D	0	.	10.9678	0.47422	0.0:0.0:0.8126:0.1874	.	36	P17081	RHOQ_HUMAN	K	36	ENSP00000238738:E36K	ENSP00000238738:E36K	E	+	1	0	RHOQ	46623795	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.262000	0.58847	0.640000	0.30582	0.449000	0.29647	GAG		0.652	RHOQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319409.1		NM_012249		51	172	0	0	0	0.139131	0	51	172		
NRXN1	9378	broad.mit.edu	37	2	50733744	50733744	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr2:50733744C>G	ENST00000406316.2	-	13	3862	c.2386G>C	c.(2386-2388)Gag>Cag	p.E796Q	NRXN1_ENST00000404971.1_Missense_Mutation_p.E836Q|NRXN1_ENST00000401669.2_Missense_Mutation_p.E796Q|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Missense_Mutation_p.E796Q|NRXN1_ENST00000405472.3_Missense_Mutation_p.E788Q|NRXN1_ENST00000402717.3_Missense_Mutation_p.E788Q	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	796	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.E837*(1)|p.E836*(1)|p.E796*(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AAAAGAGTCTCGGGACCTTTG	0.448																																						uc010fbq.2		NaN																	3	Substitution - Nonsense(3)		lung(3)	ovary(2)	2						c.(2506-2508)GAG>CAG		neurexin 1 isoform alpha2 precursor							105.0	99.0	101.0					2																	50733744		1897	4123	6020	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50733744C>G	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2386G>C	2.37:g.50733744C>G	ENSP00000384311:p.Glu796Gln					NRXN1_uc002rxb.3_Missense_Mutation_p.E468Q|NRXN1_uc002rxe.3_Missense_Mutation_p.E796Q|NRXN1_uc002rxc.1_RNA	p.E836Q	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		13	3983	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.2506G>C	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.039748	0.93630	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.86871	0.6037	M	0.63843	1.955	0.50313	D	0.999869	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.982;0.999;0.989	D	0.83901	0.0290	10	0.31617	T	0.26	.	19.8388	0.96673	0.0:1.0:0.0:0.0	.	836;796;788	Q9ULB1-3;F8WB18;A7E294	.;.;.	Q	836;796;788;796;837;788;796	ENSP00000385142:E836Q;ENSP00000384311:E796Q;ENSP00000434015:E788Q;ENSP00000385017:E796Q;ENSP00000385434:E788Q;ENSP00000385681:E796Q	ENSP00000385017:E796Q	E	-	1	0	NRXN1	50587248	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.695000	0.91970	0.561000	0.74099	GAG		0.448	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2				9	19	0	0	0	0.069234	0	9	19		
KIAA1841	84542	broad.mit.edu	37	2	61333734	61333734	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr2:61333734A>G	ENST00000402291.1	+	14	1789	c.1548A>G	c.(1546-1548)atA>atG	p.I516M	KIAA1841_ENST00000356719.2_Missense_Mutation_p.I516M|KIAA1841_ENST00000295031.5_Missense_Mutation_p.I516M|KIAA1841_ENST00000453873.1_Missense_Mutation_p.I516M	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	516										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			AAAAGGGTATAGAATGTGATG	0.348																																						uc002saw.3		NaN																	0					0						c.(1546-1548)ATA>ATG		KIAA1841 protein isoform a							132.0	147.0	142.0					2																	61333734		2203	4300	6503	SO:0001583	missense	84542							g.chr2:61333734A>G	BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.1548A>G	2.37:g.61333734A>G	ENSP00000385579:p.Ile516Met					KIAA1841_uc002sax.3_Missense_Mutation_p.I370M|KIAA1841_uc002say.2_Missense_Mutation_p.I516M	p.I516M	NM_001129993	NP_001123465	Q6NSI8	K1841_HUMAN	Epithelial(17;0.193)		14	1851	+			516					Q49AF0|Q6ZND0|Q96JI6	Missense_Mutation	SNP	ENST00000402291.1	37	c.1548A>G	CCDS46296.1	.	.	.	.	.	.	.	.	.	.	A	11.13	1.548815	0.27652	.	.	ENSG00000162929	ENST00000402291;ENST00000295031;ENST00000356719;ENST00000453873	.	.	.	5.63	-0.696	0.11287	.	0.504108	0.20822	N	0.085056	T	0.26629	0.0651	L	0.36672	1.1	0.20638	N	0.999879	B;B	0.12013	0.005;0.001	B;B	0.13407	0.009;0.002	T	0.14227	-1.0480	9	0.29301	T	0.29	-5.1694	6.8741	0.24137	0.3937:0.0:0.4716:0.1347	.	516;516	Q6NSI8-2;Q6NSI8	.;K1841_HUMAN	M	516	.	ENSP00000295031:I516M	I	+	3	3	KIAA1841	61187238	0.570000	0.26651	0.835000	0.33067	0.961000	0.63080	0.214000	0.17541	-0.269000	0.09298	-0.361000	0.07541	ATA		0.348	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1		NM_032506		18	45	0	0	0	0.0918	0	18	45		
ATP6V1B1	525	broad.mit.edu	37	2	71187068	71187068	+	Splice_Site	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr2:71187068G>A	ENST00000234396.4	+	6	518		c.e6-1		AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Splice_Site	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1						ATP hydrolysis coupled proton transport (GO:0015991)|ATP metabolic process (GO:0046034)|calcium ion homeostasis (GO:0055074)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|pH reduction (GO:0045851)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CCCTCTCCCAGGCCAGCCCAT	0.597																																						uc002shj.2		NaN																	0				skin(1)	1						c.e6-1		ATPase, H+ transporting, lysosomal 56/58kDa, V1							71.0	60.0	64.0					2																	71187068		2203	4300	6503	SO:0001630	splice_region_variant	525				ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr2:71187068G>A	AF107466	CCDS1912.1	2p13	2010-04-21	2008-07-31	2002-05-10	ENSG00000116039	ENSG00000116039	3.6.3.14	"""ATPases / V-type"""	853	protein-coding gene	gene with protein product	"""Renal tubular acidosis with deafness"""	192132	"""vacuolar proton pump 3"""	VPP3, ATP6B1		9916796, 2527371	Standard	XM_005264368		Approved	VATB, RTA1B, Vma2	uc002shj.3	P15313	OTTHUMG00000129711	ENST00000234396.4:c.446-1G>A	2.37:g.71187068G>A						ATP6V1B1_uc002shi.1_Splice_Site_p.G149_splice|ATP6V1B1_uc010fdv.2_Splice_Site_p.G149_splice|ATP6V1B1_uc010fdw.2_Splice_Site|ATP6V1B1_uc010fdx.2_Splice_Site_p.G107_splice	p.G149_splice	NM_001692	NP_001683	P15313	VATB1_HUMAN			6	533	+								Q53FY0|Q6P4H6	Splice_Site	SNP	ENST00000234396.4	37	c.446_splice	CCDS1912.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.611510	0.66558	.	.	ENSG00000116039	ENST00000234396;ENST00000483246;ENST00000412314;ENST00000454446;ENST00000432098	.	.	.	4.47	4.47	0.54385	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6688	0.68929	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATP6V1B1	71040576	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	9.648000	0.98483	2.334000	0.79466	0.655000	0.94253	.		0.597	ATP6V1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251920.2		NM_001692	Intron	30	103	0	0	0	0.092188	0	30	103		
CNTNAP5	129684	broad.mit.edu	37	2	125261952	125261952	+	Silent	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr2:125261952C>T	ENST00000431078.1	+	8	1507	c.1143C>T	c.(1141-1143)ccC>ccT	p.P381P		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	381	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGCTGCTGCCCGGCACCCCCC	0.512																																						uc002tno.2		NaN																	0				ovary(10)	10						c.(1141-1143)CCC>CCT		contactin associated protein-like 5 precursor							77.0	72.0	74.0					2																	125261952		1865	4111	5976	SO:0001819	synonymous_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125261952C>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1143C>T	2.37:g.125261952C>T						CNTNAP5_uc010flu.2_Silent_p.P382P	p.P381P	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	8	1507	+			381			Laminin G-like 2.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	c.1143C>T	CCDS46401.1																																																																																				0.512	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3				42	25	0	0	0	0.139131	0	42	25		
THSD7B	80731	broad.mit.edu	37	2	137928489	137928489	+	Silent	SNP	C	C	T	rs372552552		TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr2:137928489C>T	ENST00000409968.1	+	7	1882	c.1704C>T	c.(1702-1704)gcC>gcT	p.A568A	THSD7B_ENST00000272643.3_Silent_p.A568A|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Silent_p.A537A			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	568						integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TTCTGAAGGCCGTCTGCCAGA	0.483																																						uc002tva.1		NaN																	0				ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(1609-1611)GCC>GCT		thrombospondin, type I, domain containing 7B		T		0,3938		0,0,1969	90.0	82.0	84.0		1611	-11.8	0.0	2		84	1,8311		0,1,4155	no	coding-synonymous	THSD7B	NM_001080427.1		0,1,6124	TT,TC,CC		0.012,0.0,0.0082		537/1578	137928489	1,12249	1969	4156	6125	SO:0001819	synonymous_variant	80731							g.chr2:137928489C>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.1704C>T	2.37:g.137928489C>T						THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Silent_p.A427A	p.A537A	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	6	1611	+									Silent	SNP	ENST00000409968.1	37	c.1611C>T																																																																																					0.483	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2		XM_046570.9		11	12	0	0	0	0.160694	0	11	12		
LYPD6B	130576	broad.mit.edu	37	2	150071149	150071149	+	Silent	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr2:150071149G>A	ENST00000409029.1	+	7	679	c.477G>A	c.(475-477)caG>caA	p.Q159Q	LYPD6B_ENST00000409642.3_Silent_p.Q183Q|LYPD6B_ENST00000280115.7_Silent_p.Q183Q|LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000409876.1_Silent_p.Q159Q			Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B	159						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						TGCACGCTCAGAGAACATCTG	0.493																																						uc002twv.1		NaN																	0					0						c.(547-549)CAG>CAA		LY6/PLAUR domain containing 6B							184.0	184.0	184.0					2																	150071149		2073	4210	6283	SO:0001819	synonymous_variant	130576					anchored to membrane|plasma membrane		g.chr2:150071149G>A		CCDS46423.1	2q23.2	2012-07-20			ENSG00000150556	ENSG00000150556			27018	protein-coding gene	gene with protein product	"""cancer/testis antigen 116"""					18360792	Standard	NM_177964		Approved	CT116, LYPD7	uc002twv.1	Q8NI32	OTTHUMG00000153743	ENST00000409029.1:c.477G>A	2.37:g.150071149G>A						LYPD6B_uc002tww.1_Silent_p.Q145Q|LYPD6B_uc002twx.1_Silent_p.Q145Q	p.Q183Q	NM_177964	NP_808879	Q8NI32	LPD6B_HUMAN			7	950	+			159					D3DP90|Q53TK0|Q7Z747|Q8IXK7	Silent	SNP	ENST00000409029.1	37	c.549G>A																																																																																					0.493	LYPD6B-003	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000332299.2		NM_177964		63	148	0	0	0	0.139131	0	63	148		
TTN	7273	broad.mit.edu	37	2	179610636	179610636	+	Intron	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr2:179610636C>G	ENST00000591111.1	-	46	10585				TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.K5497N|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTAGTTGCTCTTTAAGACCA	0.408																																						uc002unb.2		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(16489-16491)AAG>AAC		titin isoform novex-3							110.0	105.0	107.0					2																	179610636		2203	4300	6503	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179610636C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-3988G>C	2.37:g.179610636C>G						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.K5497N	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	16715	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.16491G>C		.	.	.	.	.	.	.	.	.	.	C	12.22	1.873723	0.33069	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.59083	0.29	6.07	1.31	0.21738	.	.	.	.	.	T	0.45756	0.1358	L	0.29908	0.895	0.58432	D	0.999999	P	0.46512	0.879	P	0.45829	0.494	T	0.20605	-1.0270	9	0.30854	T	0.27	.	9.3301	0.38016	0.0:0.5963:0.0:0.4037	.	5497	Q8WZ42-6	.	N	5497;778	ENSP00000354117:K5497N	ENSP00000304714:K778N	K	-	3	2	TTN	179318881	0.230000	0.23740	0.899000	0.35326	0.554000	0.35429	0.257000	0.18369	0.313000	0.23062	0.655000	0.94253	AAG		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		15	44	0	0	0	0.189662	0	15	44		
FAM171B	165215	broad.mit.edu	37	2	187627410	187627410	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr2:187627410G>A	ENST00000304698.5	+	8	2544	c.2341G>A	c.(2341-2343)Gga>Aga	p.G781R		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	781						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AGAGTCGCCAGGAAGGAAAAG	0.502																																						uc002ups.2		NaN																	0				ovary(6)|breast(3)|central_nervous_system(1)	10						c.(2341-2343)GGA>AGA		KIAA1946							58.0	58.0	58.0					2																	187627410		2203	4300	6503	SO:0001583	missense	165215					integral to membrane	DNA binding	g.chr2:187627410G>A	AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.2341G>A	2.37:g.187627410G>A	ENSP00000304108:p.Gly781Arg					FAM171B_uc002upr.1_Missense_Mutation_p.G748R|FAM171B_uc002upt.2_Missense_Mutation_p.G250R	p.G781R	NM_177454	NP_803237	Q6P995	F171B_HUMAN			8	2453	+			781			Cytoplasmic (Potential).		Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	ENST00000304698.5	37	c.2341G>A	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.872351	0.00542	.	.	ENSG00000144369	ENST00000304698	T	0.32023	1.47	6.02	1.7	0.24286	.	0.427258	0.26217	N	0.025652	T	0.06096	0.0158	N	0.00707	-1.245	0.27131	N	0.961894	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.005	T	0.31392	-0.9945	10	0.07990	T	0.79	-6.6139	1.8739	0.03214	0.217:0.1594:0.4611:0.1625	.	781;782	Q6P995;A8K122	F171B_HUMAN;.	R	781	ENSP00000304108:G781R	ENSP00000304108:G781R	G	+	1	0	FAM171B	187335655	0.968000	0.33430	0.918000	0.36340	0.139000	0.21198	1.818000	0.39012	0.848000	0.35191	-0.145000	0.13849	GGA		0.502	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1		NM_177454		3	18	0	0	0	0.150653	0	3	18		
ALS2CR11	151254	broad.mit.edu	37	2	202400897	202400897	+	Silent	SNP	C	C	T	rs372655787		TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr2:202400897C>T	ENST00000286195.3	-	13	1397	c.1353G>A	c.(1351-1353)caG>caA	p.Q451Q	ALS2CR11_ENST00000439140.1_Silent_p.Q451Q|ALS2CR11_ENST00000450242.1_Silent_p.Q451Q|ALS2CR11_ENST00000439802.1_Intron	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	451										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						TTATTGTTTCCTGGTTAGAAA	0.373																																						uc002uye.2		NaN																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(1351-1353)CAG>CAA		amyotrophic lateral sclerosis 2 (juvenile)		C	,,,	0,4406		0,0,2203	162.0	152.0	155.0		,1353,1353,1353	0.6	0.0	2		155	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous,coding-synonymous,coding-synonymous	ALS2CR11	NM_001168216.1,NM_001168217.1,NM_001168221.1,NM_152525.5	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	,451/551,451/1821,451/624	202400897	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	151254							g.chr2:202400897C>T	AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.1353G>A	2.37:g.202400897C>T						ALS2CR11_uc002uyf.2_Silent_p.Q451Q|ALS2CR11_uc010fti.2_Intron	p.Q451Q	NM_152525	NP_689738	Q53TS8	AL2SA_HUMAN			13	1401	-			451					C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Silent	SNP	ENST00000286195.3	37	c.1353G>A	CCDS2349.1																																																																																				0.373	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2		NM_152525		8	55	0	0	0	0.047766	0	8	55		
INO80D	54891	broad.mit.edu	37	2	206882469	206882469	+	Missense_Mutation	SNP	A	A	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr2:206882469A>C	ENST00000403263.1	-	8	1881	c.1477T>G	c.(1477-1479)Tgc>Ggc	p.C493G		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	493					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						GGCACAGAGCACTGCTGTCCA	0.413																																						uc002vaz.3		NaN																	0				ovary(1)	1						c.(1477-1479)TGC>GGC		INO80 complex subunit D							106.0	109.0	108.0					2																	206882469		1893	4139	6032	SO:0001583	missense	54891				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:206882469A>C		CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"""INO80 complex subunits"""	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.1477T>G	2.37:g.206882469A>C	ENSP00000384198:p.Cys493Gly						p.C493G	NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN			8	1882	-			493					B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	ENST00000403263.1	37	c.1477T>G	CCDS46500.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.541083	0.85917	.	.	ENSG00000114933	ENST00000403263;ENST00000233270;ENST00000424117	D;D	0.88046	-2.33;-2.33	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.93812	0.8021	M	0.86268	2.805	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.94778	0.7951	10	0.87932	D	0	.	15.2432	0.73488	1.0:0.0:0.0:0.0	.	493	Q53TQ3-2	.	G	493;493;388	ENSP00000384198:C493G;ENSP00000402369:C388G	ENSP00000233270:C493G	C	-	1	0	INO80D	206590714	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.328000	0.96403	2.004000	0.58718	0.533000	0.62120	TGC		0.413	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1		NM_017759		9	11	0	0	0	0.069234	0	9	11		
TNS1	7145	broad.mit.edu	37	2	218700908	218700908	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr2:218700908C>T	ENST00000171887.4	-	18	3111	c.2659G>A	c.(2659-2661)Gca>Aca	p.A887T	TNS1_ENST00000419504.1_Missense_Mutation_p.A887T|TNS1_ENST00000430930.1_Missense_Mutation_p.A887T	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	887					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGGGGCTCTGCAGGCTGCTTC	0.582																																						uc002vgt.2		NaN																	0				ovary(3)|breast(1)	4						c.(2659-2661)GCA>ACA		tensin							33.0	37.0	36.0					2																	218700908		2202	4298	6500	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218700908C>T	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.2659G>A	2.37:g.218700908C>T	ENSP00000171887:p.Ala887Thr					TNS1_uc002vgr.2_Missense_Mutation_p.A887T|TNS1_uc002vgs.2_Missense_Mutation_p.A887T|TNS1_uc010zjv.1_Missense_Mutation_p.A887T	p.A887T	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	18	3057	-		Renal(207;0.0483)|Lung NSC(271;0.213)	887					Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.2659G>A	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.929092	0.34096	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	D;T;D;D	0.91011	-2.77;2.23;-2.76;-2.76	5.38	1.3	0.21679	.	0.709812	0.13574	N	0.377781	T	0.77824	0.4188	N	0.12182	0.205	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.63256	-0.6678	10	0.15952	T	0.53	.	6.8935	0.24243	0.1296:0.6355:0.0:0.2349	.	887;887;887	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	T	887;46;887;887	ENSP00000171887:A887T;ENSP00000394171:A46T;ENSP00000408724:A887T;ENSP00000406016:A887T	ENSP00000171887:A887T	A	-	1	0	TNS1	218409153	0.419000	0.25449	0.999000	0.59377	0.935000	0.57460	0.469000	0.22067	0.391000	0.25143	-0.182000	0.12963	GCA		0.582	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2		NM_022648		6	51	0	0	0	0.047766	0	6	51		
SH3BP4	23677	broad.mit.edu	37	2	235943684	235943684	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr2:235943684G>A	ENST00000409212.1	+	3	545	c.38G>A	c.(37-39)gGc>gAc	p.G13D	SH3BP4_ENST00000392011.2_Missense_Mutation_p.G13D|SH3BP4_ENST00000344528.4_Missense_Mutation_p.G13D			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	13					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		AACTCCAATGGCCTCCCTCGC	0.552																																						uc002vvp.2		NaN																	0				skin(3)|ovary(1)	4						c.(37-39)GGC>GAC		SH3-domain binding protein 4							50.0	52.0	51.0					2																	235943684		2203	4300	6503	SO:0001583	missense	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235943684G>A	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.38G>A	2.37:g.235943684G>A	ENSP00000386862:p.Gly13Asp					SH3BP4_uc010fym.2_Missense_Mutation_p.G13D|SH3BP4_uc002vvq.2_Missense_Mutation_p.G13D	p.G13D	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	3	431	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	13					O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	ENST00000409212.1	37	c.38G>A	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.686537	0.29962	.	.	ENSG00000130147	ENST00000392011;ENST00000420127;ENST00000416021;ENST00000409212;ENST00000344528;ENST00000444916;ENST00000446904;ENST00000454947	T;T;T;T;T	0.32515	2.86;1.45;2.86;2.86;1.65	4.91	4.01	0.46588	.	0.402421	0.27126	N	0.020807	T	0.18759	0.0450	N	0.14661	0.345	0.34521	D	0.708165	P;P	0.34462	0.454;0.454	B;B	0.32805	0.153;0.153	T	0.26710	-1.0095	10	0.49607	T	0.09	-33.2964	12.1705	0.54155	0.0:0.0:0.8279:0.1721	.	13;13	A8K594;Q9P0V3	.;SH3B4_HUMAN	D	13	ENSP00000375867:G13D;ENSP00000403251:G13D;ENSP00000386862:G13D;ENSP00000340237:G13D;ENSP00000415391:G13D	ENSP00000340237:G13D	G	+	2	0	SH3BP4	235608423	1.000000	0.71417	0.972000	0.41901	0.376000	0.30014	3.518000	0.53451	1.024000	0.39682	0.655000	0.94253	GGC		0.552	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1				5	30	0	0	0	0.021553	0	5	30		
SRSF6	6431	broad.mit.edu	37	20	42088479	42088479	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr20:42088479G>C	ENST00000244020.3	+	3	431	c.325G>C	c.(325-327)Gaa>Caa	p.E109Q		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	109					alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell death (GO:0060548)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of keratinocyte proliferation (GO:0010837)|regulation of wound healing (GO:0061041)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						TGTTCGTACAGAATACAGGCT	0.398																																						uc010zwg.1		NaN																	0					0						c.(325-327)GAA>CAA		arginine/serine-rich splicing factor 6							153.0	139.0	144.0					20																	42088479		2203	4300	6503	SO:0001583	missense	6431				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr20:42088479G>C	U30883	CCDS13318.1	20q12-q13.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000124193	ENSG00000124193		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10788	protein-coding gene	gene with protein product	"""pre-mRNA splicing factor SRP55"", ""SR splicing factor 6"""	601944	"""splicing factor, arginine/serine-rich 6"""	SFRS6		7556075, 20516191	Standard	NM_006275		Approved	SRP55, B52	uc010zwg.2	Q13247	OTTHUMG00000032502	ENST00000244020.3:c.325G>C	20.37:g.42088479G>C	ENSP00000244020:p.Glu109Gln					SFRS6_uc002xki.2_5'UTR|SFRS6_uc002xkk.2_Missense_Mutation_p.E109Q	p.E109Q	NM_006275	NP_006266	Q13247	SRSF6_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		3	495	+		Myeloproliferative disorder(115;0.00452)	109					B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	Missense_Mutation	SNP	ENST00000244020.3	37	c.325G>C	CCDS13318.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377814	0.61735	.	.	ENSG00000124193	ENST00000244020	T	0.11385	2.78	5.86	5.86	0.93980	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.24236	0.0587	M	0.86178	2.8	0.80722	D	1	P;P	0.42375	0.778;0.604	B;B	0.41466	0.358;0.254	T	0.03335	-1.1047	10	0.72032	D	0.01	.	18.9573	0.92664	0.0:0.0:1.0:0.0	.	109;109	Q13247;A8K588	SRSF6_HUMAN;.	Q	109	ENSP00000244020:E109Q	ENSP00000244020:E109Q	E	+	1	0	SRSF6	41521893	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	9.362000	0.97126	2.777000	0.95525	0.591000	0.81541	GAA		0.398	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079292.1		NM_006275		45	66	0	0	0	0.139131	0	45	66		
OSER1	51526	broad.mit.edu	37	20	42825950	42825950	+	Silent	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr20:42825950C>T	ENST00000372970.2	-	6	801	c.621G>A	c.(619-621)aaG>aaA	p.K207K	OSER1_ENST00000255174.2_Silent_p.K207K			Q9NX31	OSER1_HUMAN	oxidative stress responsive serine-rich 1	207					cellular response to hydrogen peroxide (GO:0070301)												CATGCCATCTCTTACACTGGC	0.488																																						uc002xlk.2		NaN																	0					0						c.(619-621)AAG>AAA		oxidative stress responsive 1							152.0	131.0	138.0					20																	42825950		2203	4300	6503	SO:0001819	synonymous_variant	51526							g.chr20:42825950C>T	AL035447	CCDS13327.1	20q13.11	2013-05-17	2013-05-17	2013-05-17	ENSG00000132823	ENSG00000132823			16105	protein-coding gene	gene with protein product	"""peroxide-inducible transcript 1"", ""oxidative stress-responsive 1"""		"""chromosome 20 open reading frame 111"""	C20orf111		17148688	Standard	NM_016470		Approved	dJ1183I21.1, HSPC207, Perit1, Osr1		Q9NX31	OTTHUMG00000032518	ENST00000372970.2:c.621G>A	20.37:g.42825950C>T							p.K207K	NM_016470	NP_057554	Q9NX31	CT111_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		4	758	-		Myeloproliferative disorder(115;0.028)	207					B2RCK4|O95912|Q9NZ84|Q9P0R8	Silent	SNP	ENST00000372970.2	37	c.621G>A	CCDS13327.1																																																																																				0.488	OSER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079334.2		NM_016470		23	60	0	0	0	0.153744	0	23	60		
NFATC2	4773	broad.mit.edu	37	20	50139887	50139887	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr20:50139887G>C	ENST00000396009.3	-	2	1112	c.893C>G	c.(892-894)gCt>gGt	p.A298G	NFATC2_ENST00000610033.1_Missense_Mutation_p.A79G|NFATC2_ENST00000371564.3_Missense_Mutation_p.A298G|NFATC2_ENST00000609943.1_Missense_Mutation_p.A278G|NFATC2_ENST00000414705.1_Missense_Mutation_p.A278G|NFATC2_ENST00000609507.1_Missense_Mutation_p.A79G	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	298					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GGCAGAGCCAGCCACAGGGGG	0.706																																						uc002xwd.2		NaN																	0				ovary(2)	2						c.(892-894)GCT>GGT		nuclear factor of activated T-cells,							8.0	11.0	10.0					20																	50139887		2154	4216	6370	SO:0001583	missense	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50139887G>C	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.893C>G	20.37:g.50139887G>C	ENSP00000379330:p.Ala298Gly					NFATC2_uc002xwc.2_Missense_Mutation_p.A298G|NFATC2_uc010zyv.1_Missense_Mutation_p.A79G|NFATC2_uc010zyw.1_Missense_Mutation_p.A79G|NFATC2_uc010zyx.1_Missense_Mutation_p.A278G|NFATC2_uc010zyy.1_Missense_Mutation_p.A79G|NFATC2_uc010zyz.1_Missense_Mutation_p.A79G|NFATC2_uc002xwe.2_Missense_Mutation_p.A278G	p.A298G	NM_173091	NP_775114	Q13469	NFAC2_HUMAN			2	1113	-	Hepatocellular(150;0.248)		298					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.893C>G	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.310888	0.23821	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000371567;ENST00000414705	T;T;T	0.14516	2.5;2.5;2.5	5.24	4.29	0.51040	.	0.559829	0.19855	N	0.104548	T	0.12135	0.0295	L	0.43923	1.385	0.29787	N	0.833513	B;B;P;B	0.35745	0.013;0.329;0.518;0.329	B;B;B;B	0.32677	0.006;0.15;0.08;0.058	T	0.06006	-1.0851	10	0.19147	T	0.46	-5.6139	13.8976	0.63783	0.0741:0.0:0.9259:0.0	.	278;278;298;298	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	G	298;298;79;278	ENSP00000360619:A298G;ENSP00000379330:A298G;ENSP00000396471:A278G	ENSP00000360619:A298G	A	-	2	0	NFATC2	49573294	0.360000	0.24964	0.065000	0.19835	0.588000	0.36517	3.264000	0.51553	1.203000	0.43233	0.305000	0.20034	GCT		0.706	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2		NM_012340		13	20	0	0	0	0.132662	0	13	20		
MYT1	4661	broad.mit.edu	37	20	62871220	62871220	+	Silent	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr20:62871220C>T	ENST00000328439.1	+	22	3565	c.3201C>T	c.(3199-3201)ctC>ctT	p.L1067L	MYT1_ENST00000536311.1_Silent_p.L1094L	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GCCAGGCCCTCATCCAAAGTC	0.592																																					GBM(59;481 1041 20555 21139 33705)	uc002yii.2		NaN																	0				ovary(2)	2						c.(3199-3201)CTC>CTT		myelin transcription factor 1							114.0	117.0	116.0					20																	62871220		2203	4300	6503	SO:0001819	synonymous_variant	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62871220C>T	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.3201C>T	20.37:g.62871220C>T						MYT1_uc002yij.2_Silent_p.L726L|MYT1_uc002yik.2_Silent_p.L33L	p.L1067L	NM_004535	NP_004526	Q01538	MYT1_HUMAN			22	3565	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		1067					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000328439.1	37	c.3201C>T	CCDS13558.1																																																																																				0.592	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1		NM_004535		40	260	0	0	0	0.139131	0	40	260		
USP25	29761	broad.mit.edu	37	21	17250767	17250767	+	Silent	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr21:17250767C>T	ENST00000285679.6	+	24	3510	c.3141C>T	c.(3139-3141)ctC>ctT	p.L1047L	USP25_ENST00000285681.2_Silent_p.L1079L|USP25_ENST00000400183.2_Silent_p.L1117L|USP25_ENST00000351097.5_Silent_p.L442L	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	1047					cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TGTTGTCCCTCAGTCGAACTC	0.433																																						uc002yjy.1		NaN																	0				ovary(3)|liver(2)	5						c.(3139-3141)CTC>CTT		ubiquitin specific peptidase 25							109.0	100.0	103.0					21																	17250767		2203	4300	6503	SO:0001819	synonymous_variant	29761				protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr21:17250767C>T	AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.3141C>T	21.37:g.17250767C>T						USP25_uc011aby.1_Silent_p.L1117L|USP25_uc002yjz.1_Silent_p.L1079L|USP25_uc010gla.1_Silent_p.L442L	p.L1047L	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN		Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)	24	3358	+			1047					C0LSZ0|Q6DHZ9|Q9H9W1	Silent	SNP	ENST00000285679.6	37	c.3141C>T	CCDS33515.1																																																																																				0.433	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1				32	35	0	0	0	0.139131	0	32	35		
TMPRSS3	64699	broad.mit.edu	37	21	43802184	43802184	+	Silent	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr21:43802184G>C	ENST00000291532.3	-	9	1897	c.942C>G	c.(940-942)ctC>ctG	p.L314L	TMPRSS3_ENST00000398397.3_Silent_p.L314L|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000433957.2_Silent_p.L314L|TMPRSS3_ENST00000398405.1_Silent_p.L312L|TMPRSS3_ENST00000380399.1_Silent_p.L398L	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	314	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular sodium ion homeostasis (GO:0006883)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						CATTGAACGTGAGTGGCCCGG	0.498																																						uc002zbb.2		NaN																	0				ovary(2)|breast(1)	3						c.(940-942)CTC>CTG		transmembrane protease, serine 3 isoform 1							159.0	143.0	148.0					21																	43802184		2203	4300	6503	SO:0001819	synonymous_variant	64699				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity	g.chr21:43802184G>C	AF201380	CCDS13686.1, CCDS42939.1, CCDS58790.1	21q22.3	2010-04-13			ENSG00000160183	ENSG00000160183		"""Serine peptidases / Transmembrane"""	11877	protein-coding gene	gene with protein product		605511		DFNB10, DFNB8		11462234, 11907649	Standard	NM_032405		Approved		uc002zbc.3	P57727	OTTHUMG00000086796	ENST00000291532.3:c.942C>G	21.37:g.43802184G>C						TMPRSS3_uc002zay.2_Silent_p.L72L|TMPRSS3_uc002zaz.2_Silent_p.L187L|TMPRSS3_uc002zba.2_Silent_p.L187L|TMPRSS3_uc002zbc.2_Silent_p.L314L|TMPRSS3_uc002zbd.2_Silent_p.L314L	p.L314L	NM_024022	NP_076927	P57727	TMPS3_HUMAN			9	1143	-			314			Peptidase S1.|Extracellular (Potential).		D3DSJ6|Q5USC7|Q6ZMC3	Silent	SNP	ENST00000291532.3	37	c.942C>G	CCDS13686.1																																																																																				0.498	TMPRSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195347.1				36	44	0	0	0	0.139131	0	36	44		
PWP2	5822	broad.mit.edu	37	21	45550606	45550606	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr21:45550606C>G	ENST00000291576.7	+	21	2840	c.2713C>G	c.(2713-2715)Ctg>Gtg	p.L905V	C21orf33_ENST00000348499.5_5'Flank|C21orf33_ENST00000291577.6_5'Flank|C21orf33_ENST00000427803.2_5'Flank	NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	905					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		CAGCCTGCATCTGCTTGGAGG	0.582																																						uc002zeb.2		NaN																	0				pancreas(1)	1						c.(2713-2715)CTG>GTG		PWP2 periodic tryptophan protein homolog							86.0	79.0	81.0					21																	45550606		2203	4300	6503	SO:0001583	missense	5822					cytoplasm|nucleolus	signal transducer activity	g.chr21:45550606C>G		CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"""WD repeat domain containing"""	9711	protein-coding gene	gene with protein product		601475	"""PWP2 (periodic tryptophan protein, yeast) homolog"""	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.2713C>G	21.37:g.45550606C>G	ENSP00000291576:p.Leu905Val					C21orf33_uc002zec.3_5'Flank|C21orf33_uc002zed.3_5'Flank	p.L905V	NM_005049	NP_005040	Q15269	PWP2_HUMAN		STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)	21	2803	+			905					B2RAG8|Q96A77	Missense_Mutation	SNP	ENST00000291576.7	37	c.2713C>G	CCDS33579.1	.	.	.	.	.	.	.	.	.	.	C	8.478	0.859192	0.17178	.	.	ENSG00000241945	ENST00000291576	T	0.58506	0.33	3.09	2.17	0.27698	.	0.553031	0.18155	N	0.149966	T	0.28333	0.0700	N	0.08118	0	0.09310	N	1	B	0.25667	0.131	B	0.19666	0.026	T	0.08785	-1.0705	10	0.20519	T	0.43	-21.4154	3.6981	0.08372	0.2479:0.6226:0.0:0.1295	.	905	Q15269	PWP2_HUMAN	V	905	ENSP00000291576:L905V	ENSP00000291576:L905V	L	+	1	2	PWP2	44375034	0.038000	0.19896	0.110000	0.21437	0.010000	0.07245	-0.299000	0.08254	0.846000	0.35142	0.655000	0.94253	CTG		0.582	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195736.3		NM_005049		53	60	0	0	0	0.139131	0	53	60		
FAM207A	85395	broad.mit.edu	37	21	46363637	46363637	+	Silent	SNP	C	C	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr21:46363637C>A	ENST00000291634.6	+	2	216	c.168C>A	c.(166-168)acC>acA	p.T56T	FAM207A_ENST00000397826.3_Silent_p.T56T	NM_058190.2	NP_478070.1	Q9NSI2	F207A_HUMAN	family with sequence similarity 207, member A	56																	TTGCCAGGACCAAGATAGACC	0.552																																						uc002zgl.2		NaN																	0					0						c.(166-168)ACC>ACA		hypothetical protein LOC85395							113.0	96.0	102.0					21																	46363637		2203	4300	6503	SO:0001819	synonymous_variant	85395							g.chr21:46363637C>A		CCDS13718.1	21q22.3	2011-08-15	2011-08-15	2011-08-15	ENSG00000160256	ENSG00000160256			15811	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 70"""	C21orf70			Standard	NM_058190		Approved	PRED56	uc002zgl.3	Q9NSI2	OTTHUMG00000090293	ENST00000291634.6:c.168C>A	21.37:g.46363637C>A						C21orf70_uc002zgm.2_Silent_p.T56T	p.T56T	NM_058190	NP_478070	Q9NSI2	CU070_HUMAN		Colorectal(79;0.248)	2	186	+			56						Silent	SNP	ENST00000291634.6	37	c.168C>A	CCDS13718.1																																																																																				0.552	FAM207A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206639.1		NM_058190		29	69	1	0	1.04352e-10	0.193644	1.09004e-10	29	69		
PCNT	5116	broad.mit.edu	37	21	47786794	47786794	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr21:47786794G>C	ENST00000359568.5	+	15	3012	c.2905G>C	c.(2905-2907)Gat>Cat	p.D969H	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	969					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTCCAGCCTTGATTCTTTGGA	0.562																																						uc002zji.3		NaN																	0				ovary(4)|breast(2)|pancreas(2)	8						c.(2905-2907)GAT>CAT		pericentrin							72.0	78.0	76.0					21																	47786794		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47786794G>C	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.2905G>C	21.37:g.47786794G>C	ENSP00000352572:p.Asp969His					PCNT_uc002zjj.2_Missense_Mutation_p.D851H	p.D969H	NM_006031	NP_006022	O95613	PCNT_HUMAN			15	3012	+	Breast(49;0.112)		969					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.2905G>C	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.669999	0.29693	.	.	ENSG00000160299	ENST00000359568	T	0.27104	1.69	5.36	5.36	0.76844	.	0.000000	0.35207	N	0.003368	T	0.48960	0.1529	M	0.63843	1.955	0.39530	D	0.968641	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.978	T	0.49457	-0.8938	10	0.56958	D	0.05	.	16.2345	0.82363	0.0:0.0:1.0:0.0	.	851;969	O95613-2;O95613	.;PCNT_HUMAN	H	969	ENSP00000352572:D969H	ENSP00000352572:D969H	D	+	1	0	PCNT	46611222	1.000000	0.71417	0.717000	0.30585	0.016000	0.09150	3.810000	0.55613	2.507000	0.84556	0.561000	0.74099	GAT		0.562	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1		NM_006031		26	82	0	0	0	0.134883	0	26	82		
CHEK2	11200	broad.mit.edu	37	22	29106036	29106036	+	Silent	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr22:29106036G>A	ENST00000405598.1	-	8	995	c.804C>T	c.(802-804)ctC>ctT	p.L268L	CHEK2_ENST00000544772.1_Silent_p.L47L|CHEK2_ENST00000464581.1_5'UTR|CHEK2_ENST00000382566.1_Silent_p.L268L|CHEK2_ENST00000328354.6_Silent_p.L268L|CHEK2_ENST00000402731.1_Silent_p.L268L|CHEK2_ENST00000382578.1_Silent_p.L177L|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Silent_p.L268L|CHEK2_ENST00000403642.1_Silent_p.L177L|CHEK2_ENST00000382580.2_Silent_p.L311L|CHEK2_ENST00000348295.3_Silent_p.L268L			O96017	CHK2_HUMAN	checkpoint kinase 2	268	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						TTTCAACATTGAGAGCTGGGT	0.264			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														uc003adu.1		NaN	yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast 			0				central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20						c.(802-804)CTC>CTT	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	protein kinase CHK2 isoform a							256.0	286.0	276.0					22																	29106036		2191	4293	6484	SO:0001819	synonymous_variant	11200	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer			cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29106036G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.804C>T	22.37:g.29106036G>A						CHEK2_uc003ads.1_Silent_p.L47L|CHEK2_uc010gvh.1_Silent_p.L177L|CHEK2_uc010gvi.1_Silent_p.L268L|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Silent_p.L311L|CHEK2_uc003adv.1_Silent_p.L268L|CHEK2_uc003adw.1_Silent_p.L268L|CHEK2_uc003adx.1_Silent_p.L47L|CHEK2_uc003ady.1_Silent_p.L268L|CHEK2_uc003adz.1_Silent_p.L72L	p.L268L	NM_007194	NP_009125	O96017	CHK2_HUMAN			7	876	-			268			Protein kinase.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.804C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	8.262	0.811314	0.16537	.	.	ENSG00000183765	ENST00000434810;ENST00000456369	.	.	.	4.96	1.51	0.23008	.	.	.	.	.	T	0.44414	0.1292	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25152	-1.0140	4	.	.	.	-12.074	3.2722	0.06886	0.2947:0.0:0.5206:0.1848	.	.	.	.	L	12;20	.	.	S	-	2	0	CHEK2	27436036	0.953000	0.32496	0.992000	0.48379	0.922000	0.55478	0.050000	0.14120	0.502000	0.28037	0.460000	0.39030	TCA		0.264	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1		NM_001005735		7	5	0	0	0	0.058154	0	7	5		
EIF3L	51386	broad.mit.edu	37	22	38266268	38266268	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr22:38266268G>A	ENST00000412331.2	+	8	1247	c.665G>A	c.(664-666)tGg>tAg	p.W222*	EIF3L_ENST00000476955.1_3'UTR|EIF3L_ENST00000381683.6_Nonsense_Mutation_p.W174*|EIF3L_ENST00000406934.1_Nonsense_Mutation_p.W124*	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L											kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CCCAAAATCTGGAATGTTCAT	0.458																																						uc003auf.2		NaN																	0				ovary(1)	1						c.(664-666)TGG>TAG		eukaryotic translation initiation factor 3							151.0	121.0	131.0					22																	38266268		2203	4300	6503	SO:0001587	stop_gained	51386					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr22:38266268G>A	AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"""eukaryotic translation initiation factor 3, subunit 6 interacting protein"", ""eukaryotic translation initiation factor 3, subunit E interacting protein"""	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.665G>A	22.37:g.38266268G>A	ENSP00000416892:p.Trp222*					EIF3L_uc003aue.1_Nonsense_Mutation_p.W222*|EIF3L_uc011ann.1_Nonsense_Mutation_p.W174*|EIF3L_uc003aug.2_Nonsense_Mutation_p.W114*|EIF3L_uc003auh.2_5'UTR	p.W222*	NM_016091	NP_057175	Q9Y262	EIF3L_HUMAN			8	752	+			222						Nonsense_Mutation	SNP	ENST00000412331.2	37	c.665G>A	CCDS13960.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388088	0.82902	.	.	ENSG00000100129	ENST00000412331;ENST00000425539;ENST00000381683;ENST00000262832;ENST00000406934	.	.	.	4.93	3.89	0.44902	.	0.118400	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.5488	14.8508	0.70295	0.0:0.0:0.855:0.145	.	.	.	.	X	222;265;174;189;124	.	ENSP00000262832:W189X	W	+	2	0	EIF3L	36596214	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.364000	0.97136	1.162000	0.42619	0.462000	0.41574	TGG		0.458	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319551.2		NM_016091		16	25	0	0	0	0.175082	0	16	25		
EP300	2033	broad.mit.edu	37	22	41572404	41572404	+	Nonsense_Mutation	SNP	C	C	T	rs139310551		TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr22:41572404C>T	ENST00000263253.7	+	30	6152	c.4933C>T	c.(4933-4935)Cga>Tga	p.R1645*	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1645	Binding region for E1A adenovirus.|CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.R1645R(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CTCTTCACTCCGAAGAGCCCA	0.557			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3		NaN		Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		1	Substitution - coding silent(1)	p.R1645R(1)	skin(1)	haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(4933-4935)CGA>TGA		E1A binding protein p300							97.0	79.0	85.0					22																	41572404		2203	4300	6503	SO:0001587	stop_gained	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41572404C>T	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4933C>T	22.37:g.41572404C>T	ENSP00000263253:p.Arg1645*						p.R1645*	NM_001429	NP_001420	Q09472	EP300_HUMAN			30	5328	+			1645			Binding region for E1A adenovirus.		B1AKC2	Nonsense_Mutation	SNP	ENST00000263253.7	37	c.4933C>T	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	51	18.453565	0.99905	.	.	ENSG00000100393	ENST00000263253	.	.	.	5.03	2.81	0.32909	.	0.000000	0.40728	N	0.001033	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.5464	13.7569	0.62942	0.2808:0.7192:0.0:0.0	.	.	.	.	X	1645	.	ENSP00000263253:R1645X	R	+	1	2	EP300	39902350	0.995000	0.38212	0.052000	0.19188	0.996000	0.88848	3.298000	0.51818	0.566000	0.29273	0.650000	0.86243	CGA		0.557	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1		NM_001429		34	13	0	0	0	0.080422	0	34	13		
EP300	2033	broad.mit.edu	37	22	41572932	41572932	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr22:41572932C>G	ENST00000263253.7	+	31	6436	c.5217C>G	c.(5215-5217)atC>atG	p.I1739M	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1739	Binding region for E1A adenovirus.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AGCGCTGCATCCAGTCTCTGG	0.562			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3		NaN		Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		0				haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(5215-5217)ATC>ATG		E1A binding protein p300							84.0	73.0	77.0					22																	41572932		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41572932C>G	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.5217C>G	22.37:g.41572932C>G	ENSP00000263253:p.Ile1739Met						p.I1739M	NM_001429	NP_001420	Q09472	EP300_HUMAN			31	5612	+			1739			Binding region for E1A adenovirus.|TAZ-type 2.		B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.5217C>G	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.601255	0.46423	.	.	ENSG00000100393	ENST00000263253	D	0.83163	-1.69	5.75	3.69	0.42338	Zinc finger, TAZ-type (5);	0.000000	0.49305	D	0.000147	D	0.83147	0.5191	N	0.20574	0.59	0.43936	D	0.99659	D	0.89917	1.0	D	0.91635	0.999	D	0.83690	0.0176	10	0.87932	D	0	-8.3792	10.4608	0.44578	0.0:0.7922:0.0:0.2078	.	1739	Q09472	EP300_HUMAN	M	1739	ENSP00000263253:I1739M	ENSP00000263253:I1739M	I	+	3	3	EP300	39902878	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.743000	0.47442	0.794000	0.33899	0.650000	0.86243	ATC		0.562	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1		NM_001429		37	16	0	0	0	0.124865	0	37	16		
EP300	2033	broad.mit.edu	37	22	41573079	41573079	+	Silent	SNP	C	C	G	rs143551315		TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr22:41573079C>G	ENST00000263253.7	+	31	6583	c.5364C>G	c.(5362-5364)ctC>ctG	p.L1788L	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1788	Binding region for E1A adenovirus.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TCATTGCCCTCTGCTGCTACC	0.572			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3		NaN		Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		0				haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(5362-5364)CTC>CTG		E1A binding protein p300							71.0	66.0	67.0					22																	41573079		2203	4300	6503	SO:0001819	synonymous_variant	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41573079C>G	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.5364C>G	22.37:g.41573079C>G							p.L1788L	NM_001429	NP_001420	Q09472	EP300_HUMAN			31	5759	+			1788			Binding region for E1A adenovirus.|TAZ-type 2.		B1AKC2	Silent	SNP	ENST00000263253.7	37	c.5364C>G	CCDS14010.1																																																																																				0.572	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1		NM_001429		54	23	0	0	0	0.139131	0	54	23		
EP300	2033	broad.mit.edu	37	22	41573719	41573719	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr22:41573719C>G	ENST00000263253.7	+	31	7223	c.6004C>G	c.(6004-6006)Cag>Gag	p.Q2002E	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2002					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AGGATTGCCTCAGCCCCAGCA	0.602			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3		NaN		Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		0				haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(6004-6006)CAG>GAG		E1A binding protein p300							61.0	58.0	59.0					22																	41573719		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41573719C>G	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.6004C>G	22.37:g.41573719C>G	ENSP00000263253:p.Gln2002Glu						p.Q2002E	NM_001429	NP_001420	Q09472	EP300_HUMAN			31	6399	+			2002					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.6004C>G	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	7.581	0.668782	0.14776	.	.	ENSG00000100393	ENST00000263253	D	0.84442	-1.85	5.2	5.2	0.72013	Nuclear receptor coactivator, CREB-bp-like, interlocking (1);	0.000000	0.46145	D	0.000320	T	0.77665	0.4164	N	0.19112	0.55	0.48135	D	0.999596	P	0.37061	0.58	B	0.42112	0.376	T	0.74355	-0.3692	10	0.02654	T	1	-5.5743	18.7385	0.91765	0.0:1.0:0.0:0.0	.	2002	Q09472	EP300_HUMAN	E	2002	ENSP00000263253:Q2002E	ENSP00000263253:Q2002E	Q	+	1	0	EP300	39903665	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.500000	0.81588	2.431000	0.82371	0.561000	0.74099	CAG		0.602	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1		NM_001429		37	17	0	0	0	0.131918	0	37	17		
EP300	2033	broad.mit.edu	37	22	41573838	41573838	+	Silent	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr22:41573838C>G	ENST00000263253.7	+	31	7342	c.6123C>G	c.(6121-6123)ctC>ctG	p.L2041L	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2041	Interaction with HTLV-1 Tax.|Interaction with NCOA2.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TCAGCCCACTCAAACCAGGCA	0.547			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3		NaN		Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		0				haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(6121-6123)CTC>CTG		E1A binding protein p300							107.0	104.0	105.0					22																	41573838		2203	4300	6503	SO:0001819	synonymous_variant	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41573838C>G	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.6123C>G	22.37:g.41573838C>G							p.L2041L	NM_001429	NP_001420	Q09472	EP300_HUMAN			31	6518	+			2041			Interaction with HTLV-1 Tax.|Interaction with NCOA2.		B1AKC2	Silent	SNP	ENST00000263253.7	37	c.6123C>G	CCDS14010.1																																																																																				0.547	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1		NM_001429		48	25	0	0	0	0.139131	0	48	25		
EP300	2033	broad.mit.edu	37	22	41573889	41573889	+	Silent	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr22:41573889C>G	ENST00000263253.7	+	31	7393	c.6174C>G	c.(6172-6174)ctC>ctG	p.L2058L	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2058	Interaction with HTLV-1 Tax.|Interaction with NCOA2.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGCGGACTCTCAGGTCTCCCA	0.552			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3		NaN		Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		0				haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(6172-6174)CTC>CTG		E1A binding protein p300							97.0	99.0	98.0					22																	41573889		2203	4300	6503	SO:0001819	synonymous_variant	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41573889C>G	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.6174C>G	22.37:g.41573889C>G							p.L2058L	NM_001429	NP_001420	Q09472	EP300_HUMAN			31	6569	+			2058			Interaction with HTLV-1 Tax.|Interaction with NCOA2.		B1AKC2	Silent	SNP	ENST00000263253.7	37	c.6174C>G	CCDS14010.1																																																																																				0.552	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1		NM_001429		52	24	0	0	0	0.139131	0	52	24		
MEI1	150365	broad.mit.edu	37	22	42112115	42112115	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr22:42112115T>C	ENST00000401548.3	+	5	534	c.494T>C	c.(493-495)aTc>aCc	p.I165T	MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540833.1_5'UTR	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GTGGATGCCATCCCTGCTCTG	0.532																																						uc003baz.1		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(493-495)ATC>ACC		meiosis defective 1							51.0	52.0	51.0					22																	42112115		2138	4237	6375	SO:0001583	missense	150365						binding	g.chr22:42112115T>C	AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.494T>C	22.37:g.42112115T>C	ENSP00000384115:p.Ile165Thr					MEI1_uc003bay.3_Missense_Mutation_p.I165T|MEI1_uc011apd.1_RNA	p.I165T	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN			5	519	+			165						Missense_Mutation	SNP	ENST00000401548.3	37	c.494T>C	CCDS46718.1	.	.	.	.	.	.	.	.	.	.	T	17.34	3.363816	0.61513	.	.	ENSG00000167077	ENST00000401548	T	0.05447	3.44	5.9	4.87	0.63330	Armadillo-type fold (1);	0.335793	0.30959	N	0.008528	T	0.09069	0.0224	L	0.46157	1.445	0.80722	D	1	P;B	0.49783	0.928;0.061	B;B	0.44085	0.44;0.019	T	0.03315	-1.1049	10	0.87932	D	0	-5.1904	11.7846	0.52034	0.0:0.0685:0.0:0.9315	.	165;165	Q5TIA1;Q5TIA1-4	MEI1_HUMAN;.	T	165	ENSP00000384115:I165T	ENSP00000384115:I165T	I	+	2	0	MEI1	40442061	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	3.857000	0.55972	1.060000	0.40578	0.533000	0.62120	ATC		0.532	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3		NM_152513		14	32	0	0	0	0.160694	0	14	32		
ITPR1	3708	broad.mit.edu	37	3	4711438	4711438	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr3:4711438G>A	ENST00000443694.2	+	16	1942	c.1942G>A	c.(1942-1944)Gac>Aac	p.D648N	ITPR1_ENST00000354582.6_Missense_Mutation_p.D663N|ITPR1_ENST00000423119.2_Missense_Mutation_p.D663N|ITPR1_ENST00000456211.2_Missense_Mutation_p.D648N|ITPR1_ENST00000357086.4_Missense_Mutation_p.D663N|ITPR1_ENST00000302640.8_Missense_Mutation_p.D648N|ITPR1_ENST00000544951.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	663					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.D648Y(2)|p.D663Y(1)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	CACCAACGCTGACATCCTGAT	0.468																																						uc003bqa.2		NaN																	3	Substitution - Missense(3)		lung(3)	lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21						c.(1987-1989)GAC>AAC		inositol 1,4,5-triphosphate receptor, type 1							67.0	65.0	66.0					3																	4711438		2203	4300	6503	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4711438G>A	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.1942G>A	3.37:g.4711438G>A	ENSP00000401671:p.Asp648Asn					ITPR1_uc010hca.1_Missense_Mutation_p.D648N|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Missense_Mutation_p.D648N	p.D663N	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	19	2335	+			663			Cytoplasmic (Potential).		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.1987G>A	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.453141	0.84209	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.96232	-3.95;-3.95;-3.95;-3.95;-3.95;-3.95	5.24	5.24	0.73138	Intracellular calcium-release channel (1);	0.000000	0.85682	D	0.000000	D	0.98093	0.9371	M	0.80746	2.51	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.97110	0.988;1.0;1.0	D	0.97917	1.0312	10	0.45353	T	0.12	.	19.0205	0.92912	0.0:0.0:1.0:0.0	.	648;663;663	E7EPX7;Q14643;G5E9P1	.;ITPR1_HUMAN;.	N	663;648;663;663;663;648;648	ENSP00000306253:D648N;ENSP00000346595:D663N;ENSP00000405934:D663N;ENSP00000349597:D663N;ENSP00000397885:D648N;ENSP00000401671:D648N	ENSP00000306253:D648N	D	+	1	0	ITPR1	4686438	1.000000	0.71417	0.962000	0.40283	0.523000	0.34469	9.575000	0.98187	2.706000	0.92434	0.655000	0.94253	GAC		0.468	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3		NM_002222		6	13	0	0	0	0.02938	0	6	13		
ITPR1	3708	broad.mit.edu	37	3	4711446	4711446	+	Silent	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr3:4711446G>A	ENST00000443694.2	+	16	1950	c.1950G>A	c.(1948-1950)ctG>ctA	p.L650L	ITPR1_ENST00000354582.6_Silent_p.L665L|ITPR1_ENST00000423119.2_Silent_p.L665L|ITPR1_ENST00000456211.2_Silent_p.L650L|ITPR1_ENST00000357086.4_Silent_p.L665L|ITPR1_ENST00000302640.8_Silent_p.L650L|ITPR1_ENST00000544951.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	665					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	CTGACATCCTGATTGAGACCA	0.463																																						uc003bqa.2		NaN																	0				lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21						c.(1993-1995)CTG>CTA		inositol 1,4,5-triphosphate receptor, type 1							61.0	59.0	60.0					3																	4711446		2203	4300	6503	SO:0001819	synonymous_variant	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4711446G>A	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.1950G>A	3.37:g.4711446G>A						ITPR1_uc010hca.1_Silent_p.L650L|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Silent_p.L650L	p.L665L	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	19	2343	+			665			Cytoplasmic (Potential).		E7EPX7|E9PDE9|Q14660|Q99897	Silent	SNP	ENST00000443694.2	37	c.1995G>A	CCDS54551.1																																																																																				0.463	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3		NM_002222		5	12	0	0	0	0.184627	0	5	12		
ALAS1	211	broad.mit.edu	37	3	52245397	52245397	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr3:52245397C>G	ENST00000394965.2	+	10	1789	c.1429C>G	c.(1429-1431)Ctg>Gtg	p.L477V	ALAS1_ENST00000310271.2_Missense_Mutation_p.L477V|ALAS1_ENST00000469224.1_Missense_Mutation_p.L477V|ALAS1_ENST00000484952.1_Missense_Mutation_p.L477V	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	477					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	CACCACCTCTCTGCCACCCAT	0.592																																						uc003dcy.1		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(1429-1431)CTG>GTG		5-aminolevulinate synthase 1 precursor	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						125.0	101.0	109.0					3																	52245397		2203	4300	6503	SO:0001583	missense	211				heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr3:52245397C>G	X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.1429C>G	3.37:g.52245397C>G	ENSP00000378416:p.Leu477Val					ALAS1_uc003dcz.1_Missense_Mutation_p.L477V|ALAS1_uc011bec.1_Missense_Mutation_p.L494V	p.L477V	NM_000688	NP_000679	P13196	HEM1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	10	1766	+			477						Missense_Mutation	SNP	ENST00000394965.2	37	c.1429C>G	CCDS2847.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.668473	0.67814	.	.	ENSG00000023330	ENST00000469224;ENST00000394965;ENST00000310271;ENST00000484952	D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87	5.86	2.07	0.26955	Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.64402	D	0.000001	D	0.94820	0.8327	M	0.91140	3.18	0.58432	D	0.999995	D;D	0.76494	0.999;0.999	D;D	0.76575	0.988;0.988	D	0.92044	0.5643	10	0.87932	D	0	-19.4983	5.1388	0.14948	0.1333:0.5945:0.0:0.2722	.	494;477	B4DVA0;P13196	.;HEM1_HUMAN	V	477	ENSP00000417719:L477V;ENSP00000378416:L477V;ENSP00000309259:L477V;ENSP00000418779:L477V	ENSP00000309259:L477V	L	+	1	2	ALAS1	52220437	0.862000	0.29867	0.997000	0.53966	0.988000	0.76386	1.756000	0.38390	0.104000	0.17725	-0.142000	0.14014	CTG		0.592	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350207.1				20	9	0	0	0	0.055883	0	20	9		
FAM19A4	151647	broad.mit.edu	37	3	68802156	68802156	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr3:68802156G>C	ENST00000295569.7	-	4	636	c.144C>G	c.(142-144)atC>atG	p.I48M		NM_001005527.2|NM_182522.4	NP_001005527.1|NP_872328.1	Q96LR4	F19A4_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A4	48						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		TCCCTTGCTTGATTTGGTGGT	0.493																																						uc003dnh.1		NaN																	0				skin(2)	2						c.(142-144)ATC>ATG		family with sequence similarity 19 (chemokine							67.0	58.0	61.0					3																	68802156		2203	4300	6503	SO:0001583	missense	151647					extracellular region		g.chr3:68802156G>C	AY325117	CCDS2907.1	3p14.1	2014-08-14			ENSG00000163377	ENSG00000163377			21591	protein-coding gene	gene with protein product						15028294, 25109685	Standard	NM_182522		Approved	TAFA-4	uc021xah.1	Q96LR4	OTTHUMG00000158744	ENST00000295569.7:c.144C>G	3.37:g.68802156G>C	ENSP00000295569:p.Ile48Met					FAM19A4_uc003dni.1_Missense_Mutation_p.I48M	p.I48M	NM_182522	NP_872328	Q96LR4	F19A4_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)	4	587	-		Lung NSC(201;0.0198)	48					A8MVT2	Missense_Mutation	SNP	ENST00000295569.7	37	c.144C>G	CCDS2907.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.692265	0.48202	.	.	ENSG00000163377	ENST00000295569;ENST00000495737	.	.	.	5.36	5.36	0.76844	.	0.115474	0.56097	D	0.000021	T	0.28067	0.0692	N	0.08118	0	0.31704	N	0.640399	B	0.33857	0.429	B	0.37047	0.24	T	0.40289	-0.9571	9	0.54805	T	0.06	-16.4114	14.3836	0.66929	0.0:0.2241:0.7758:0.0	.	48	Q96LR4	F19A4_HUMAN	M	48	.	ENSP00000295569:I48M	I	-	3	3	FAM19A4	68884846	0.681000	0.27614	1.000000	0.80357	0.957000	0.61999	-0.229000	0.09098	2.508000	0.84585	0.591000	0.81541	ATC		0.493	FAM19A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352002.1		NM_182522		23	10	0	0	0	0.144211	0	23	10		
CADM2	253559	broad.mit.edu	37	3	86010686	86010686	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr3:86010686G>C	ENST00000407528.2	+	7	894	c.832G>C	c.(832-834)Ggt>Cgt	p.G278R	CADM2_ENST00000405615.2_Missense_Mutation_p.G280R|CADM2_ENST00000383699.3_Missense_Mutation_p.G287R	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	278	Ig-like C2-type 2.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GGTTGTGAGTGGTAGGGAGCT	0.433																																						uc003dqj.2		NaN																	0				ovary(1)|lung(1)|kidney(1)|skin(1)	4						c.(832-834)GGT>CGT		immunoglobulin superfamily, member 4D							159.0	149.0	152.0					3																	86010686		2203	4300	6503	SO:0001583	missense	253559				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		g.chr3:86010686G>C	AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.832G>C	3.37:g.86010686G>C	ENSP00000384575:p.Gly278Arg					CADM2_uc003dqk.2_Missense_Mutation_p.G287R|CADM2_uc003dql.2_Missense_Mutation_p.G280R	p.G278R	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)	7	1458	+		Lung NSC(201;0.0148)	278			Ig-like C2-type 2.|Extracellular (Potential).		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	ENST00000407528.2	37	c.832G>C	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.781392	0.90282	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.65916	-0.18;-0.18;-0.18	5.31	5.31	0.75309	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.79627	0.4478	M	0.70842	2.15	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.995;1.0;1.0	T	0.81136	-0.1070	10	0.72032	D	0.01	.	19.3281	0.94270	0.0:0.0:1.0:0.0	.	280;287;278	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	R	287;278;280	ENSP00000373200:G287R;ENSP00000384575:G278R;ENSP00000384193:G280R	ENSP00000373200:G287R	G	+	1	0	CADM2	86093376	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.388000	0.97237	2.629000	0.89072	0.650000	0.86243	GGT		0.433	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1		NM_153184		26	83	0	0	0	0.163468	0	26	83		
NSUN3	63899	broad.mit.edu	37	3	93802971	93802971	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr3:93802971C>G	ENST00000314622.4	+	3	354	c.143C>G	c.(142-144)tCa>tGa	p.S48*		NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3	48							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						ACATCTCCATCATGCTGGCAA	0.338																																						uc003drl.1		NaN																	0				skin(1)	1						c.(142-144)TCA>TGA		NOL1/NOP2/Sun domain family, member 3							45.0	45.0	45.0					3																	93802971		2203	4300	6503	SO:0001587	stop_gained	63899						methyltransferase activity	g.chr3:93802971C>G	BC020602	CCDS2927.1	3q11.2	2009-11-23	2009-11-23		ENSG00000178694	ENSG00000178694		"""NOP2/Sun domain containing"""	26208	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family 3"", ""NOL1/NOP2/Sun domain family, member 3"""			12477932	Standard	NM_022072		Approved	FLJ22609	uc003drl.1	Q9H649	OTTHUMG00000159025	ENST00000314622.4:c.143C>G	3.37:g.93802971C>G	ENSP00000318986:p.Ser48*						p.S48*	NM_022072	NP_071355	Q9H649	NSUN3_HUMAN			3	259	+			48					Q6PG41|Q8IXG9|Q9H6M2	Nonsense_Mutation	SNP	ENST00000314622.4	37	c.143C>G	CCDS2927.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.599988	0.46318	.	.	ENSG00000178694	ENST00000314622	.	.	.	5.81	2.99	0.34606	.	0.729507	0.13102	N	0.413665	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-0.5059	2.1003	0.03678	0.3722:0.2668:0.2435:0.1174	.	.	.	.	X	48	.	ENSP00000318986:S48X	S	+	2	0	NSUN3	95285661	0.000000	0.05858	0.080000	0.20451	0.605000	0.37080	-0.009000	0.12765	0.759000	0.33084	0.655000	0.94253	TCA		0.338	NSUN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352934.1		NM_022072		23	24	0	0	0	0.099896	0	23	24		
BBX	56987	broad.mit.edu	37	3	107520009	107520009	+	Silent	SNP	A	A	G	rs199832268		TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr3:107520009A>G	ENST00000325805.8	+	17	2906	c.2619A>G	c.(2617-2619)aaA>aaG	p.K873K	BBX_ENST00000415149.2_Silent_p.K843K|BBX_ENST00000402543.1_Silent_p.K823K|BBX_ENST00000416476.2_Missense_Mutation_p.N537S|BBX_ENST00000406780.1_Silent_p.K843K			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	873					bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GCAATGACAAATGCTCACACA	0.512																																						uc010hpr.2		NaN																	0				ovary(3)|skin(1)	4						c.(2617-2619)AAA>AAG		HMG-BOX transcription factor BBX isoform 1							102.0	101.0	102.0					3																	107520009		2203	4300	6503	SO:0001819	synonymous_variant	56987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr3:107520009A>G	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.2619A>G	3.37:g.107520009A>G						BBX_uc003dwk.3_Silent_p.K843K|BBX_uc003dwl.3_Missense_Mutation_p.N537S|BBX_uc003dwm.3_Silent_p.K843K|BBX_uc003dwo.3_Missense_Mutation_p.N190S	p.K873K	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.112)		17	2946	+			873					A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Silent	SNP	ENST00000325805.8	37	c.2619A>G	CCDS46881.1	.	.	.	.	.	.	.	.	.	.	A	10.44	1.350761	0.24512	.	.	ENSG00000114439	ENST00000416476	D	0.98889	-5.21	6.02	-2.93	0.05598	.	.	.	.	.	D	0.94971	0.8373	.	.	.	0.23611	N	0.997299	B	0.02656	0.0	B	0.06405	0.002	D	0.88284	0.2938	8	0.87932	D	0	-1.7112	1.8066	0.03082	0.5051:0.1054:0.2515:0.1379	.	537	A2RRM7	.	S	537	ENSP00000403860:N537S	ENSP00000403860:N537S	N	+	2	0	BBX	109002699	0.549000	0.26481	0.012000	0.15200	0.028000	0.11728	-0.172000	0.09868	-0.468000	0.06922	0.528000	0.53228	AAT		0.512	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1		NM_020235		43	32	0	0	0	0.139131	0	43	32		
RPN1	6184	broad.mit.edu	37	3	128356705	128356705	+	Silent	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr3:128356705G>A	ENST00000296255.3	-	3	618	c.570C>T	c.(568-570)aaC>aaT	p.N190N	RPN1_ENST00000497289.1_Silent_p.N18N	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	190					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		AGCGCGTGGGGTTCCCCAGCT	0.532			T	EVI1	AML																																	uc003ekr.1		NaN		Dom	yes		3	3q21.3-q25.2	6184	T	ribophorin I			L	EVI1		AML		0				ovary(2)|central_nervous_system(1)	3						c.(568-570)AAC>AAT		ribophorin I precursor							160.0	135.0	143.0					3																	128356705		2203	4300	6503	SO:0001819	synonymous_variant	6184				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr3:128356705G>A		CCDS3051.1	3q21.3	2013-03-06			ENSG00000163902	ENSG00000163902			10381	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 1 homolog (S. cerevisiae)"", ""oligosaccharyltransferase complex subunit (non-catalytic)"""	180470					Standard	NM_002950		Approved	OST1	uc003ekr.1	P04843	OTTHUMG00000159691	ENST00000296255.3:c.570C>T	3.37:g.128356705G>A						RPN1_uc011bkq.1_Silent_p.N18N	p.N190N	NM_002950	NP_002941	P04843	RPN1_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	3	646	-			190			Lumenal (Potential).		B2R5Z0|D3DNB6|Q68DT1	Silent	SNP	ENST00000296255.3	37	c.570C>T	CCDS3051.1																																																																																				0.532	RPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356934.2		NM_002950		23	83	0	0	0	0.108266	0	23	83		
RNF7	9616	broad.mit.edu	37	3	141462354	141462354	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr3:141462354C>T	ENST00000273480.3	+	2	317	c.179C>T	c.(178-180)gCc>gTc	p.A60V	RNF7_ENST00000393000.3_Missense_Mutation_p.P58S|RNF7_ENST00000480908.1_Intron	NM_014245.4|NM_183237.2	NP_055060.1|NP_899060.1	Q9UBF6	RBX2_HUMAN	ring finger protein 7	60					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of apoptotic process (GO:0043066)|protein neddylation (GO:0045116)|protein ubiquitination (GO:0016567)|response to redox state (GO:0051775)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|NEDD8 ligase activity (GO:0019788)|zinc ion binding (GO:0008270)			kidney(1)|lung(3)|upper_aerodigestive_tract(1)	5						CTTTTAGATGCCTGTCTTAGA	0.373																																						uc003eud.2		NaN																	0					0						c.(178-180)GCC>GTC		ring finger protein 7 isoform 1							249.0	237.0	241.0					3																	141462354		2203	4300	6503	SO:0001583	missense	9616				anti-apoptosis|induction of apoptosis by oxidative stress|protein neddylation|response to redox state	cytoplasm|nucleus	copper ion binding|NEDD8 ligase activity|protein binding|zinc ion binding	g.chr3:141462354C>T	AF092878	CCDS3118.1, CCDS43158.1, CCDS56283.1	3q22-q24	2008-07-18			ENSG00000114125	ENSG00000114125		"""RING-type (C3HC4) zinc fingers"""	10070	protein-coding gene	gene with protein product	"""sensitive to apoptosis, zinc RING finger protein SAG, regulator of cullins 2"""	603863				10082581, 10230407	Standard	NM_014245		Approved	SAG, ROC2, CKBBP1	uc003eud.3	Q9UBF6	OTTHUMG00000141305	ENST00000273480.3:c.179C>T	3.37:g.141462354C>T	ENSP00000273480:p.Ala60Val					RNF7_uc003euc.2_Missense_Mutation_p.P58S|RNF7_uc003eue.2_RNA	p.A60V	NM_014245	NP_055060	Q9UBF6	RBX2_HUMAN			2	312	+			60					A8K1H9|A8MTB5|C9JYL3|D3DNF7|D3DNF8|Q9BXN8|Q9Y5M7	Missense_Mutation	SNP	ENST00000273480.3	37	c.179C>T	CCDS3118.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.52|15.52	2.857797|2.857797	0.51376|0.51376	.|.	.|.	ENSG00000114125|ENSG00000114125	ENST00000273480|ENST00000393000	T|.	0.43688|.	0.94|.	5.92|5.92	5.92|5.92	0.95590|0.95590	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, RING-H2-type (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.48857|0.48857	0.1523|0.1523	.|.	.|.	.|.	0.29617|0.29617	N|N	0.846484|0.846484	B|P	0.22080|0.36577	0.064|0.558	B|B	0.23852|0.36464	0.049|0.225	T|T	0.53968|0.53968	-0.8363|-0.8363	9|7	0.31617|0.87932	T|D	0.26|0	.|.	20.3343|20.3343	0.98733|0.98733	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	60|58	Q9UBF6|Q9UBF6-3	RBX2_HUMAN|.	V|S	60|58	ENSP00000273480:A60V|.	ENSP00000273480:A60V|ENSP00000376725:P58S	A|P	+|+	2|1	0|0	RNF7|RNF7	142945044|142945044	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.619000|6.619000	0.74219|0.74219	2.822000|2.822000	0.97130|0.97130	0.650000|0.650000	0.86243|0.86243	GCC|CCT		0.373	RNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280602.1		NM_014245		16	35	0	0	0	0.204396	0	16	35		
MAP3K13	9175	broad.mit.edu	37	3	185155308	185155308	+	Silent	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr3:185155308C>T	ENST00000265026.3	+	3	883	c.549C>T	c.(547-549)ttC>ttT	p.F183F	MAP3K13_ENST00000424227.1_Silent_p.F183F|MAP3K13_ENST00000446828.1_Intron|MAP3K13_ENST00000535426.1_Silent_p.F39F|MAP3K13_ENST00000443863.1_Silent_p.F39F	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GAGCGGTCTTCTTGGGCAAGT	0.498																																						uc010hyf.2		NaN																	0				ovary(2)|skin(1)	3						c.(547-549)TTC>TTT		mitogen-activated protein kinase kinase kinase							99.0	94.0	96.0					3																	185155308		2203	4300	6503	SO:0001819	synonymous_variant	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185155308C>T	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.549C>T	3.37:g.185155308C>T						MAP3K13_uc011brt.1_Intron|MAP3K13_uc003fph.3_5'UTR|MAP3K13_uc011bru.1_Silent_p.F39F|MAP3K13_uc003fpi.2_Silent_p.F183F|MAP3K13_uc010hyg.2_Intron	p.F183F	NM_004721	NP_004712	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		4	815	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		183			Protein kinase.			Silent	SNP	ENST00000265026.3	37	c.549C>T	CCDS3270.1																																																																																				0.498	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1		NM_004721		49	89	0	0	0	0.139131	0	49	89		
DGKG	1608	broad.mit.edu	37	3	186006603	186006603	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr3:186006603G>A	ENST00000265022.3	-	6	979	c.440C>T	c.(439-441)cCc>cTc	p.P147L	DGKG_ENST00000544847.1_Missense_Mutation_p.P147L|DGKG_ENST00000344484.4_Missense_Mutation_p.P147L|DGKG_ENST00000382164.4_Missense_Mutation_p.P147L	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	147					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CCGAGGGACGGGGGGTTCCAG	0.547																																						uc003fqa.2		NaN																	0				breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(439-441)CCC>CTC		diacylglycerol kinase gamma isoform 1	Phosphatidylserine(DB00144)						133.0	148.0	143.0					3																	186006603		2203	4300	6503	SO:0001583	missense	1608				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr3:186006603G>A	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.440C>T	3.37:g.186006603G>A	ENSP00000265022:p.Pro147Leu					DGKG_uc003fqb.2_Missense_Mutation_p.P147L|DGKG_uc003fqc.2_Missense_Mutation_p.P147L|DGKG_uc011brx.1_Missense_Mutation_p.P147L	p.P147L	NM_001346	NP_001337	P49619	DGKG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	6	977	-	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		147					B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	ENST00000265022.3	37	c.440C>T	CCDS3274.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.924556	0.34002	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000544847;ENST00000538691	D;D;D;T	0.83335	-1.53;-1.54;-1.71;-1.39	5.87	-0.82	0.10826	.	0.960666	0.08651	N	0.913965	T	0.76990	0.4065	M	0.62723	1.935	0.26911	N	0.966883	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.10450	0.001;0.001;0.005;0.002	T	0.61554	-0.7039	10	0.34782	T	0.22	.	5.2306	0.15420	0.3037:0.0:0.472:0.2243	.	147;147;147;147	F5GX27;P49619-2;P49619-3;P49619	.;.;.;DGKG_HUMAN	L	147;147;147;147;150	ENSP00000265022:P147L;ENSP00000339777:P147L;ENSP00000371599:P147L;ENSP00000440507:P147L	ENSP00000265022:P147L	P	-	2	0	DGKG	187489297	0.249000	0.23941	0.000000	0.03702	0.000000	0.00434	1.846000	0.39289	-0.028000	0.13850	-0.136000	0.14681	CCC		0.547	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3				100	310	0	0	0	0.139131	0	100	310		
OPA1	4976	broad.mit.edu	37	3	193384092	193384092	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr3:193384092G>C	ENST00000392438.3	+	26	2855	c.2621G>C	c.(2620-2622)tGc>tCc	p.C874S	OPA1_ENST00000361828.2_Missense_Mutation_p.C892S|OPA1_ENST00000361715.2_Missense_Mutation_p.C893S|OPA1_ENST00000361908.3_Missense_Mutation_p.C911S|OPA1_ENST00000361510.2_Missense_Mutation_p.C929S|OPA1_ENST00000361150.2_Missense_Mutation_p.C875S	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	874					apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		CAGTTGGAATGCAATGATGTG	0.358																																						uc003ftm.2		NaN																	0					0						c.(2620-2622)TGC>TCC		optic atrophy 1 isoform 1							138.0	124.0	129.0					3																	193384092		2203	4300	6503	SO:0001583	missense	4976				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	g.chr3:193384092G>C	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.2621G>C	3.37:g.193384092G>C	ENSP00000376233:p.Cys874Ser					OPA1_uc003ftg.2_Missense_Mutation_p.C929S|OPA1_uc003fth.2_Missense_Mutation_p.C893S|OPA1_uc003fti.2_Missense_Mutation_p.C911S|OPA1_uc003ftj.2_Missense_Mutation_p.C892S|OPA1_uc003ftk.2_Missense_Mutation_p.C875S|OPA1_uc003ftl.2_Missense_Mutation_p.C856S|OPA1_uc003ftn.2_Missense_Mutation_p.C838S	p.C874S	NM_015560	NP_056375	O60313	OPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)	26	2855	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		874			Mitochondrial intermembrane (By similarity).		D3DNW4	Missense_Mutation	SNP	ENST00000392438.3	37	c.2621G>C	CCDS43186.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983594	0.93044	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150;ENST00000445863	D;D;D;D;D;D;D	0.91894	-2.93;-2.93;-2.93;-2.93;-2.93;-2.93;-2.93	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.96147	0.8744	M	0.79011	2.435	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;0.999;1.0;0.999;1.0	D;D;D;D;D;D;D;D	0.80764	0.992;0.991;0.992;0.992;0.994;0.994;0.991;0.994	D	0.96194	0.9140	10	0.87932	D	0	-9.7092	19.0191	0.92906	0.0:0.0:1.0:0.0	.	838;874;856;875;892;911;893;929	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	S	911;874;929;893;892;875;66	ENSP00000354681:C911S;ENSP00000376233:C874S;ENSP00000355324:C929S;ENSP00000355311:C893S;ENSP00000354429:C892S;ENSP00000354781:C875S;ENSP00000398358:C66S	ENSP00000354781:C875S	C	+	2	0	OPA1	194866786	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.869000	0.99810	2.734000	0.93682	0.555000	0.69702	TGC		0.358	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2		NM_130837		21	56	0	0	0	0.0918	0	21	56		
SENP5	205564	broad.mit.edu	37	3	196613169	196613169	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr3:196613169C>T	ENST00000323460.5	+	2	1366	c.1117C>T	c.(1117-1119)Cat>Tat	p.H373Y	SENP5_ENST00000419026.1_Intron|SENP5_ENST00000445299.2_Missense_Mutation_p.H373Y	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	373					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)	p.H373Y(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		AGAGCTGATTCATGACATCCC	0.443																																					Ovarian(47;891 1095 11174 13858 51271)	uc003fwz.3		NaN																	1	Substitution - Missense(1)		endometrium(1)	breast(2)|lung(1)	3						c.(1117-1119)CAT>TAT		SUMO1/sentrin specific peptidase 5							72.0	72.0	72.0					3																	196613169		2203	4300	6503	SO:0001583	missense	205564				cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity	g.chr3:196613169C>T	BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"""SUMO1/sentrin specific protease 5"""			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.1117C>T	3.37:g.196613169C>T	ENSP00000327197:p.His373Tyr					SENP5_uc011bty.1_Missense_Mutation_p.H373Y	p.H373Y	NM_152699	NP_689912	Q96HI0	SENP5_HUMAN	Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)	2	1366	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		373					B4DY82|Q96SA5	Missense_Mutation	SNP	ENST00000323460.5	37	c.1117C>T	CCDS3322.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.841842	0.32513	.	.	ENSG00000119231	ENST00000323460;ENST00000445299	T;T	0.24723	2.18;1.84	5.4	2.41	0.29592	.	0.334336	0.26032	N	0.026749	T	0.16128	0.0388	L	0.27053	0.805	0.80722	D	1	P;P	0.50943	0.94;0.837	B;B	0.41571	0.36;0.185	T	0.02581	-1.1138	10	0.62326	D	0.03	-0.9507	7.4389	0.27171	0.2717:0.4389:0.2894:0.0	.	373;373	B4DY82;Q96HI0	.;SENP5_HUMAN	Y	373	ENSP00000327197:H373Y;ENSP00000390231:H373Y	ENSP00000327197:H373Y	H	+	1	0	SENP5	198097566	0.037000	0.19845	1.000000	0.80357	0.980000	0.70556	0.152000	0.16302	1.374000	0.46228	0.655000	0.94253	CAT		0.443	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340524.1		NM_152699		6	38	0	0	0	0.058154	0	6	38		
DLG1	1739	broad.mit.edu	37	3	196792639	196792639	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr3:196792639C>G	ENST00000419354.1	-	22	2459	c.2173G>C	c.(2173-2175)Gac>Cac	p.D725H	DLG1_ENST00000443183.1_Missense_Mutation_p.D621H|DLG1_ENST00000422288.1_Missense_Mutation_p.D674H|DLG1_ENST00000346964.2_Missense_Mutation_p.D747H|DLG1_ENST00000357674.4_Missense_Mutation_p.D714H|DLG1_ENST00000314062.3_Missense_Mutation_p.D674H|DLG1_ENST00000452595.1_Missense_Mutation_p.D609H|DLG1_ENST00000450955.1_Missense_Mutation_p.D714H|DLG1_ENST00000392382.2_Missense_Mutation_p.D692H|DLG1_ENST00000448528.2_Missense_Mutation_p.D725H			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	725	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TTTATCCTGTCTTTCATAGGT	0.299																																						uc003fxo.3		NaN																	0				ovary(3)	3						c.(2173-2175)GAC>CAC		discs, large homolog 1 isoform 1							119.0	114.0	116.0					3																	196792639		2203	4299	6502	SO:0001583	missense	1739				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding	g.chr3:196792639C>G	U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"""discs large homolog 1"", ""presynaptic protein SAP97"", ""synapse-associated protein 97"""	601014	"""discs, large (Drosophila) homolog 1"""			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.2173G>C	3.37:g.196792639C>G	ENSP00000407531:p.Asp725His					DLG1_uc011bub.1_Missense_Mutation_p.D621H|DLG1_uc011buc.1_Missense_Mutation_p.D609H|DLG1_uc011bud.1_Missense_Mutation_p.D408H|DLG1_uc003fxn.3_Missense_Mutation_p.D747H|DLG1_uc011bue.1_Missense_Mutation_p.D713H|DLG1_uc010ial.2_Missense_Mutation_p.D725H	p.D725H	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)	22	2363	-	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	725			Guanylate kinase-like.		A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Missense_Mutation	SNP	ENST00000419354.1	37	c.2173G>C	CCDS43194.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.221631	0.58560	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000452595;ENST00000422288;ENST00000448528;ENST00000443183;ENST00000392382;ENST00000450955	T;T;T;T;T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17;2.17;2.17;2.17;2.17	5.43	5.43	0.79202	Src homology-3 domain (1);Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.110472	0.64402	D	0.000015	T	0.51941	0.1704	M	0.82630	2.6	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.83275	0.99;0.99;0.993;0.995;0.996	T	0.55101	-0.8193	10	0.54805	T	0.06	.	18.2314	0.89936	0.0:1.0:0.0:0.0	.	714;609;621;725;747	Q12959-4;E9PG21;E7EWL7;Q12959;Q12959-2	.;.;.;DLG1_HUMAN;.	H	747;738;714;712;674;725;609;674;725;621;692;714	ENSP00000345731:D747H;ENSP00000350303:D714H;ENSP00000321087:D674H;ENSP00000407531:D725H;ENSP00000398939:D609H;ENSP00000413238:D674H;ENSP00000391732:D725H;ENSP00000396658:D621H;ENSP00000376187:D692H;ENSP00000411278:D714H	ENSP00000321087:D674H	D	-	1	0	DLG1	198277036	1.000000	0.71417	1.000000	0.80357	0.176000	0.22953	7.818000	0.86416	2.552000	0.86080	0.467000	0.42956	GAC		0.299	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258170.2		NM_004087		12	42	0	0	0	0.175082	0	12	42		
ZNF721	170960	broad.mit.edu	37	4	436766	436766	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr4:436766C>A	ENST00000338977.5	-	2	1502	c.1454G>T	c.(1453-1455)gGc>gTc	p.G485V	ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.G497V|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000507078.1_Intron			Q8TF20	ZN721_HUMAN	zinc finger protein 721	485					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						GGGTTTCTCGCCAGTATGAAT	0.383																																						uc003gag.2		NaN																	0				ovary(1)	1						c.(1489-1491)GGC>GTC		zinc finger protein 721							78.0	85.0	82.0					4																	436766		2083	4247	6330	SO:0001583	missense	170960					intracellular	nucleic acid binding|zinc ion binding	g.chr4:436766C>A	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.1454G>T	4.37:g.436766C>A	ENSP00000340524:p.Gly485Val					ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Missense_Mutation_p.G529V|ZNF721_uc010ibe.2_Missense_Mutation_p.G485V	p.G497V	NM_133474	NP_597731	D9N162	D9N162_HUMAN			3	2181	-			497					Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37	c.1490G>T		.	.	.	.	.	.	.	.	.	.	C	12.46	1.944560	0.34283	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.23552	1.9;1.9	0.71	-0.793	0.10922	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41903	0.1179	M	0.69823	2.125	0.53005	D	0.999966	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.32455	-0.9906	9	0.72032	D	0.01	.	5.2635	0.15586	0.3329:0.6671:0.0:0.0	.	485;497;497	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	V	485;497	ENSP00000340524:G485V;ENSP00000428878:G497V	ENSP00000340524:G485V	G	-	2	0	ZNF721	426766	0.001000	0.12720	0.007000	0.13788	0.008000	0.06430	1.390000	0.34464	-0.279000	0.09167	0.194000	0.17425	GGC		0.383	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1		NM_133474		11	41	1	0	9.31168e-06	0.105934	9.54447e-06	11	41		
NMU	10874	broad.mit.edu	37	4	56475309	56475309	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr4:56475309A>G	ENST00000264218.3	-	4	362	c.257T>C	c.(256-258)aTg>aCg	p.M86T	NMU_ENST00000511469.1_Missense_Mutation_p.M70T|NMU_ENST00000507338.1_Missense_Mutation_p.M86T|NMU_ENST00000515325.1_5'UTR|NMU_ENST00000505262.1_Missense_Mutation_p.M86T	NM_006681.2	NP_006672.1	P48645	NMU_HUMAN	neuromedin U	86					digestion (GO:0007586)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric acid secretion (GO:0001696)|neuropeptide signaling pathway (GO:0007218)|photoperiodism (GO:0009648)|positive regulation of hormone secretion (GO:0046887)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic transmission (GO:0050806)|regulation of smooth muscle contraction (GO:0006940)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|terminal bouton (GO:0043195)	receptor binding (GO:0005102)			lung(3)|ovary(1)|urinary_tract(1)	5	Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.103)	LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559)	LUSC - Lung squamous cell carcinoma(721;0.0115)		TAGCATTCCCATAATCATAAA	0.358																																						uc003hbc.2		NaN																	0					0						c.(256-258)ATG>ACG		neuromedin U precursor							119.0	117.0	118.0					4																	56475309		2203	4300	6503	SO:0001583	missense	10874				neuropeptide signaling pathway	extracellular region		g.chr4:56475309A>G	X76029	CCDS3501.1, CCDS75125.1	4q12	2013-02-26			ENSG00000109255	ENSG00000109255		"""Endogenous ligands"""	7859	protein-coding gene	gene with protein product	"""prepro-NMU"""	605103				7619205	Standard	XM_005265713		Approved		uc003hbc.3	P48645	OTTHUMG00000102161	ENST00000264218.3:c.257T>C	4.37:g.56475309A>G	ENSP00000264218:p.Met86Thr					NMU_uc003hbd.1_RNA|NMU_uc010igv.1_RNA|NMU_uc010igw.1_Missense_Mutation_p.M1T|NMU_uc010igx.1_RNA	p.M86T	NM_006681	NP_006672	P48645	NMU_HUMAN	LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559)	LUSC - Lung squamous cell carcinoma(721;0.0115)	4	363	-	Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.103)	86						Missense_Mutation	SNP	ENST00000264218.3	37	c.257T>C	CCDS3501.1	.	.	.	.	.	.	.	.	.	.	A	8.296	0.818865	0.16607	.	.	ENSG00000109255	ENST00000511469;ENST00000264218;ENST00000505262;ENST00000541393;ENST00000507338	T;T;T;T	0.53857	0.6;0.6;1.17;0.6	5.51	0.0744	0.14395	.	0.208574	0.48767	N	0.000164	T	0.42675	0.1213	M	0.65498	2.005	0.33021	D	0.528914	B	0.27229	0.172	B	0.16289	0.015	T	0.40421	-0.9564	10	0.51188	T	0.08	-10.1196	6.2074	0.20610	0.6126:0.2507:0.1367:0.0	.	86	P48645	NMU_HUMAN	T	70;86;86;86;86	ENSP00000422399:M70T;ENSP00000264218:M86T;ENSP00000424246:M86T;ENSP00000422870:M86T	ENSP00000264218:M86T	M	-	2	0	NMU	56170066	1.000000	0.71417	0.003000	0.11579	0.410000	0.31052	1.613000	0.36900	-0.185000	0.10550	-1.087000	0.02190	ATG		0.358	NMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220006.2				41	24	0	0	0	0.139131	0	41	24		
EXOC1	55763	broad.mit.edu	37	4	56734667	56734667	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr4:56734667G>C	ENST00000381295.2	+	5	929	c.581G>C	c.(580-582)aGa>aCa	p.R194T	EXOC1_ENST00000349598.6_Missense_Mutation_p.R194T|EXOC1_ENST00000346134.7_Missense_Mutation_p.R194T	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	194					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					AAATTGTCCAGAGAGCTGCAG	0.388																																						uc003hbe.1		NaN																	0				ovary(2)|skin(2)|lung(1)|central_nervous_system(1)	6						c.(580-582)AGA>ACA		exocyst complex component 1 isoform 1							91.0	90.0	90.0					4																	56734667		2203	4300	6503	SO:0001583	missense	55763				exocytosis|protein transport	exocyst	protein binding	g.chr4:56734667G>C	AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.581G>C	4.37:g.56734667G>C	ENSP00000370695:p.Arg194Thr					EXOC1_uc003hbf.1_Missense_Mutation_p.R194T|EXOC1_uc003hbg.1_Missense_Mutation_p.R194T	p.R194T	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN			5	739	+	Glioma(25;0.08)|all_neural(26;0.101)		194					Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	ENST00000381295.2	37	c.581G>C	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.727191	0.69074	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.88	5.88	0.94601	.	0.044016	0.85682	D	0.000000	T	0.66396	0.2785	L	0.44542	1.39	0.80722	D	1	B;B	0.22146	0.065;0.04	B;B	0.32980	0.056;0.156	T	0.59316	-0.7477	9	0.34782	T	0.22	.	20.2371	0.98361	0.0:0.0:1.0:0.0	.	194;194	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	T	194	.	ENSP00000326514:R194T	R	+	2	0	EXOC1	56429424	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.976000	0.70484	2.788000	0.95919	0.555000	0.69702	AGA		0.388	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1		NM_018261		9	49	0	0	0	0.080935	0	9	49		
AFF1	4299	broad.mit.edu	37	4	88052994	88052994	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr4:88052994G>C	ENST00000307808.6	+	17	3550	c.3130G>C	c.(3130-3132)Gag>Cag	p.E1044Q	AFF1_ENST00000395146.4_Missense_Mutation_p.E1051Q|AFF1_ENST00000544085.1_Missense_Mutation_p.E682Q	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	1044					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GCCAACACAAGAGAAAATATT	0.308																																						uc003hqj.3		NaN																	0				breast(1)	1						c.(3130-3132)GAG>CAG		myeloid/lymphoid or mixed-lineage leukemia							125.0	119.0	121.0					4																	88052994		2203	4300	6503	SO:0001583	missense	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:88052994G>C	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.3130G>C	4.37:g.88052994G>C	ENSP00000305689:p.Glu1044Gln					AFF1_uc011ccz.1_Missense_Mutation_p.E1051Q|AFF1_uc003hqk.3_Missense_Mutation_p.E1044Q|AFF1_uc011cda.1_Missense_Mutation_p.E682Q	p.E1044Q	NM_005935	NP_005926	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	17	3537	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	1044					B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	c.3130G>C	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.028646	0.54790	.	.	ENSG00000172493	ENST00000395146;ENST00000307808;ENST00000544085	T;T;T	0.67523	-0.27;-0.27;-0.27	5.64	4.8	0.61643	.	0.169294	0.41500	D	0.000875	T	0.75946	0.3919	M	0.70275	2.135	0.54753	D	0.999983	D;D;D	0.60575	0.988;0.988;0.988	P;P;P	0.55749	0.783;0.783;0.783	T	0.78735	-0.2088	10	0.59425	D	0.04	-18.3013	14.081	0.64922	0.0727:0.0:0.9273:0.0	.	1051;1044;1044	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	Q	1051;1044;682	ENSP00000378578:E1051Q;ENSP00000305689:E1044Q;ENSP00000440843:E682Q	ENSP00000305689:E1044Q	E	+	1	0	AFF1	88272018	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	4.686000	0.61700	1.387000	0.46486	0.655000	0.94253	GAG		0.308	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3		NM_005935		3	14	0	0	0	0.150653	0	3	14		
NDST3	9348	broad.mit.edu	37	4	119158371	119158371	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr4:119158371A>G	ENST00000296499.5	+	10	2517	c.2114A>G	c.(2113-2115)tAc>tGc	p.Y705C		NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	705	Heparan sulfate N-sulfotransferase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TACTCCTGGTACCAGGTAAGG	0.443																																						uc003ibx.2		NaN																	0				large_intestine(1)	1						c.(2113-2115)TAC>TGC		N-deacetylase/N-sulfotransferase (heparan							63.0	59.0	60.0					4																	119158371		2203	4300	6503	SO:0001583	missense	9348					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:119158371A>G	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.2114A>G	4.37:g.119158371A>G	ENSP00000296499:p.Tyr705Cys					NDST3_uc011cgf.1_3'UTR	p.Y705C	NM_004784	NP_004775	O95803	NDST3_HUMAN			10	2517	+			705			Lumenal (Potential).|Heparan sulfate N-sulfotransferase 3.		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	ENST00000296499.5	37	c.2114A>G	CCDS3708.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.699218	0.88830	.	.	ENSG00000164100	ENST00000296499	T	0.63255	-0.03	6.03	6.03	0.97812	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.86053	0.5841	H	0.96460	3.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90389	0.4394	10	0.87932	D	0	.	16.5655	0.84588	1.0:0.0:0.0:0.0	.	705	O95803	NDST3_HUMAN	C	705	ENSP00000296499:Y705C	ENSP00000296499:Y705C	Y	+	2	0	NDST3	119377819	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.808000	0.91939	2.302000	0.77476	0.533000	0.62120	TAC		0.443	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4		NM_004784		8	35	0	0	0	0.09319	0	8	35		
SPATA5	166378	broad.mit.edu	37	4	124177235	124177235	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr4:124177235G>A	ENST00000274008.4	+	15	2474	c.2405G>A	c.(2404-2406)aGa>aAa	p.R802K		NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	802					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						GCAGCAACAAGAAGGGAAATA	0.438																																						uc003iez.3		NaN																	0					0						c.(2404-2406)AGA>AAA		spermatogenesis associated 5							148.0	136.0	140.0					4																	124177235		2203	4300	6503	SO:0001583	missense	166378				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	g.chr4:124177235G>A	AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"""ATPases / AAA-type"""	18119	protein-coding gene	gene with protein product	"""ATPase family gene 2 homolog (S. cerevisiae)"""	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.2405G>A	4.37:g.124177235G>A	ENSP00000274008:p.Arg802Lys						p.R802K	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN			15	2478	+			802					C9JT97|Q86XW1|Q8NI20|Q8TDL7	Missense_Mutation	SNP	ENST00000274008.4	37	c.2405G>A	CCDS3730.1	.	.	.	.	.	.	.	.	.	.	G	31	5.093547	0.94149	.	.	ENSG00000145375	ENST00000274008	D	0.95756	-3.8	4.87	4.87	0.63330	.	0.000000	0.64402	D	0.000002	D	0.97892	0.9307	M	0.84511	2.7	0.50039	D	0.999843	D	0.71674	0.998	D	0.87578	0.998	D	0.98740	1.0716	10	0.87932	D	0	-23.8809	18.2243	0.89911	0.0:0.0:1.0:0.0	.	802	Q8NB90	SPAT5_HUMAN	K	802	ENSP00000274008:R802K	ENSP00000274008:R802K	R	+	2	0	SPATA5	124396685	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.251000	0.89838	2.532000	0.85374	0.557000	0.71058	AGA		0.438	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2		NM_145207		42	15	0	0	0	0.139131	0	42	15		
NAA15	80155	broad.mit.edu	37	4	140299981	140299981	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr4:140299981G>A	ENST00000296543.5	+	17	2451	c.2128G>A	c.(2128-2130)Gag>Aag	p.E710K	NAA15_ENST00000398947.1_Missense_Mutation_p.E710K	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	710	Interaction with HYPK.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						CTGGCTTCATGAGTGTATGAT	0.328																																						uc003ihu.1		NaN																	0				ovary(1)|skin(1)	2						c.(2128-2130)GAG>AAG		NMDA receptor regulated 1							212.0	182.0	191.0					4																	140299981		1843	4097	5940	SO:0001583	missense	80155				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	g.chr4:140299981G>A	AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.2128G>A	4.37:g.140299981G>A	ENSP00000296543:p.Glu710Lys						p.E710K	NM_057175	NP_476516	Q9BXJ9	NAA15_HUMAN			17	2384	+			710					D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Missense_Mutation	SNP	ENST00000296543.5	37	c.2128G>A	CCDS43270.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.031783	0.54790	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	T;T	0.45668	0.89;0.91	5.83	5.83	0.93111	.	0.062950	0.64402	D	0.000007	T	0.42291	0.1196	L	0.58810	1.83	0.80722	D	1	B	0.23540	0.087	B	0.34536	0.185	T	0.23511	-1.0186	10	0.06757	T	0.87	-14.3776	15.5961	0.76583	0.0:0.1369:0.8631:0.0	.	710	Q9BXJ9	NAA15_HUMAN	K	710;584;710	ENSP00000296543:E710K;ENSP00000381920:E710K	ENSP00000296543:E710K	E	+	1	0	NAA15	140519431	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.529000	0.67135	2.770000	0.95276	0.655000	0.94253	GAG		0.328	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2		NM_057175		20	14	0	0	0	0.108266	0	20	14		
ADAM29	11086	broad.mit.edu	37	4	175896737	175896737	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr4:175896737C>A	ENST00000359240.3	+	5	731	c.61C>A	c.(61-63)Cag>Aag	p.Q21K	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Missense_Mutation_p.Q21K|ADAM29_ENST00000404450.4_Missense_Mutation_p.Q21K|ADAM29_ENST00000445694.1_Missense_Mutation_p.Q21K	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	21					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TGGACACATCCAGGATGAGCA	0.507																																					Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.2		NaN																	0				skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16						c.(61-63)CAG>AAG		ADAM metallopeptidase domain 29 preproprotein							106.0	106.0	106.0					4																	175896737		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175896737C>A	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.61C>A	4.37:g.175896737C>A	ENSP00000352177:p.Gln21Lys					ADAM29_uc003iud.2_Missense_Mutation_p.Q21K|ADAM29_uc010irr.2_Missense_Mutation_p.Q21K|ADAM29_uc011cki.1_Missense_Mutation_p.Q21K	p.Q21K	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	731	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	21					Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.61C>A	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	C	7.498	0.652017	0.14580	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000502940;ENST00000502305;ENST00000404450;ENST00000514159	T;T;T;T;T;T	0.52526	4.65;4.65;0.94;0.66;4.65;4.65	4.36	-0.705	0.11252	.	.	.	.	.	T	0.28863	0.0716	L	0.40543	1.245	0.09310	N	1	B	0.31241	0.315	B	0.27076	0.076	T	0.16928	-1.0386	8	.	.	.	.	0.8417	0.01151	0.1648:0.3856:0.1607:0.2888	.	21	Q9UKF5	ADA29_HUMAN	K	21	ENSP00000352177:Q21K;ENSP00000414544:Q21K;ENSP00000427674:Q21K;ENSP00000422537:Q21K;ENSP00000384229:Q21K;ENSP00000423517:Q21K	.	Q	+	1	0	ADAM29	176133312	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.663000	0.05299	-0.302000	0.08869	-0.196000	0.12772	CAG		0.507	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding					20	75	1	0	1.96895e-08	0.076483	2.03086e-08	20	75		
TENM3	55714	broad.mit.edu	37	4	183245337	183245337	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr4:183245337C>T	ENST00000511685.1	+	2	287	c.164C>T	c.(163-165)tCg>tTg	p.S55L	TENM3_ENST00000406950.2_Missense_Mutation_p.S55L			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	55	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CATGATTCCTCGCGGCTGCTT	0.483																																						uc003ivd.1		NaN																	0					0						c.(163-165)TCG>TTG		odz, odd Oz/ten-m homolog 3							127.0	127.0	127.0					4																	183245337		1949	4159	6108	SO:0001583	missense	55714				signal transduction	integral to membrane		g.chr4:183245337C>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.164C>T	4.37:g.183245337C>T	ENSP00000424226:p.Ser55Leu					ODZ3_uc010irv.1_Missense_Mutation_p.S55L	p.S55L	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	1	201	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	55			Cytoplasmic (Potential).|Teneurin N-terminal.		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.164C>T	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126596	0.77549	.	.	ENSG00000218336	ENST00000512480;ENST00000511685;ENST00000406950	T;T;T	0.41400	1.0;1.0;1.0	5.65	5.65	0.86999	Teneurin intracellular, N-terminal (2);	.	.	.	.	T	0.56062	0.1960	L	0.34521	1.04	0.49582	D	0.999804	P;D	0.69078	0.923;0.997	B;D	0.70227	0.26;0.968	T	0.54016	-0.8356	9	0.56958	D	0.05	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	55;55	D6RGC5;Q9P273	.;TEN3_HUMAN	L	55	ENSP00000421320:S55L;ENSP00000424226:S55L;ENSP00000385276:S55L	ENSP00000385276:S55L	S	+	2	0	ODZ3	183482331	1.000000	0.71417	0.786000	0.31890	0.996000	0.88848	6.825000	0.75293	2.941000	0.99782	0.655000	0.94253	TCG		0.483	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1				20	57	0	0	0	0.069288	0	20	57		
SEMA5A	9037	broad.mit.edu	37	5	9190395	9190395	+	Silent	SNP	G	G	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr5:9190395G>T	ENST00000382496.5	-	11	1922	c.1257C>A	c.(1255-1257)atC>atA	p.I419I		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	419	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CCAAATAGATGATGTGGACGA	0.498																																						uc003jek.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1255-1257)ATC>ATA		semaphorin 5A precursor							63.0	57.0	59.0					5																	9190395		2203	4300	6503	SO:0001819	synonymous_variant	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9190395G>T	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1257C>A	5.37:g.9190395G>T							p.I419I	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			11	1969	-			419			Sema.|Extracellular (Potential).		D3DTC6|O60408|Q1RLL9	Silent	SNP	ENST00000382496.5	37	c.1257C>A	CCDS3875.1																																																																																				0.498	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2				8	34	1	0	0.000442599	0.058154	0.000446685	8	34		
NUP155	9631	broad.mit.edu	37	5	37292081	37292081	+	Missense_Mutation	SNP	G	G	C	rs140076285	byFrequency	TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr5:37292081G>C	ENST00000231498.3	-	35	4300	c.4097C>G	c.(4096-4098)tCt>tGt	p.S1366C	NUP155_ENST00000381843.2_Missense_Mutation_p.S1307C|NUP155_ENST00000513532.1_Missense_Mutation_p.S1302C|NUP155_ENST00000502533.1_5'UTR	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1366					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CGAGCTCATAGACTGGAGCTC	0.363													G|||	4	0.000798722	0.003	0.0	5008	,	,		15388	0.0		0.0	False		,,,				2504	0.0					uc003jku.1		NaN																	0				ovary(1)	1						c.(4096-4098)TCT>TGT		nucleoporin 155kDa isoform 1		G	CYS/SER,CYS/SER	16,4390	23.3+/-48.9	0,16,2187	87.0	87.0	87.0		3920,4097	5.1	1.0	5	dbSNP_134	87	0,8600		0,0,4300	yes	missense,missense	NUP155	NM_004298.2,NM_153485.1	112,112	0,16,6487	CC,CG,GG		0.0,0.3631,0.123	possibly-damaging,possibly-damaging	1307/1333,1366/1392	37292081	16,12990	2203	4300	6503	SO:0001583	missense	9631				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	g.chr5:37292081G>C	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.4097C>G	5.37:g.37292081G>C	ENSP00000231498:p.Ser1366Cys					NUP155_uc003jkt.1_Missense_Mutation_p.S1307C|NUP155_uc010iuz.1_Missense_Mutation_p.S1302C	p.S1366C	NM_153485	NP_705618	O75694	NU155_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		35	4215	-	all_lung(31;0.000137)		1366					Q9UBE9|Q9UFL5	Missense_Mutation	SNP	ENST00000231498.3	37	c.4097C>G	CCDS3921.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	16.98	3.272482	0.59649	0.003631	0.0	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	T;T;T	0.78707	-1.2;-1.19;-1.18	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.72898	0.3518	L	0.40543	1.245	0.80722	D	1	B;B	0.33280	0.219;0.405	B;B	0.33846	0.171;0.171	T	0.74067	-0.3784	10	0.52906	T	0.07	.	18.6081	0.91273	0.0:0.0:1.0:0.0	.	1302;1366	E9PF10;O75694	.;NU155_HUMAN	C	1366;1307;1328;1302	ENSP00000231498:S1366C;ENSP00000371265:S1307C;ENSP00000422019:S1302C	ENSP00000231498:S1366C	S	-	2	0	NUP155	37327838	1.000000	0.71417	0.985000	0.45067	0.953000	0.61014	8.689000	0.91265	2.622000	0.88805	0.585000	0.79938	TCT		0.363	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2		NM_153485, NM_004298		18	47	0	0	0	0.055883	0	18	47		
MAP1B	4131	broad.mit.edu	37	5	71494257	71494257	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr5:71494257C>G	ENST00000296755.7	+	5	5373	c.5075C>G	c.(5074-5076)tCt>tGt	p.S1692C		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1692					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TACAGTCCTTCTGACATGCAG	0.488																																					Melanoma(17;367 822 11631 31730 47712)	uc003kbw.3		NaN																	0				large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(5074-5076)TCT>TGT		microtubule-associated protein 1B							88.0	81.0	84.0					5																	71494257		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71494257C>G	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.5075C>G	5.37:g.71494257C>G	ENSP00000296755:p.Ser1692Cys					MAP1B_uc010iyw.1_Missense_Mutation_p.S1709C|MAP1B_uc010iyx.1_Missense_Mutation_p.S1566C|MAP1B_uc010iyy.1_Missense_Mutation_p.S1566C	p.S1692C	NM_005909	NP_005900	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	5316	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1692					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.5075C>G	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.452507	0.26074	.	.	ENSG00000131711	ENST00000296755	T	0.03717	3.83	3.84	3.84	0.44239	.	0.000000	0.47455	D	0.000230	T	0.06735	0.0172	N	0.08118	0	0.48830	D	0.99971	D;D	0.76494	0.999;0.999	D;D	0.64042	0.921;0.921	T	0.55547	-0.8124	10	0.62326	D	0.03	-13.0473	17.0434	0.86495	0.0:1.0:0.0:0.0	.	1566;1692	A2BDK6;P46821	.;MAP1B_HUMAN	C	1692	ENSP00000296755:S1692C	ENSP00000296755:S1692C	S	+	2	0	MAP1B	71530013	0.999000	0.42202	0.997000	0.53966	0.994000	0.84299	3.942000	0.56614	2.443000	0.82685	0.462000	0.41574	TCT		0.488	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6		NM_005909		33	16	0	0	0	0.183431	0	33	16		
TNPO1	3842	broad.mit.edu	37	5	72189254	72189254	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr5:72189254G>A	ENST00000337273.5	+	17	2373	c.1947G>A	c.(1945-1947)atG>atA	p.M649I	TNPO1_ENST00000523768.1_Missense_Mutation_p.M599I|TNPO1_ENST00000506351.2_Missense_Mutation_p.M641I|TNPO1_ENST00000454282.1_Missense_Mutation_p.M599I	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	649					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		AAGATTTTATGATAGTGGCTC	0.378																																						uc003kck.3		NaN																	0				skin(3)|urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)	7						c.(1945-1947)ATG>ATA		transportin 1 isoform 1							58.0	61.0	60.0					5																	72189254		2203	4297	6500	SO:0001583	missense	3842				interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr5:72189254G>A	U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"""Importins"""	6401	protein-coding gene	gene with protein product	"""importin 2"""	602901	"""karyopherin (importin) beta 2"""	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.1947G>A	5.37:g.72189254G>A	ENSP00000336712:p.Met649Ile					TNPO1_uc011csj.1_Missense_Mutation_p.M599I|TNPO1_uc003kch.2_Missense_Mutation_p.M641I|TNPO1_uc003kci.3_Missense_Mutation_p.M641I|TNPO1_uc003kcg.3_Missense_Mutation_p.M641I	p.M649I	NM_002270	NP_002261	Q92973	TNPO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)	17	2094	+		Lung NSC(167;0.0053)|Ovarian(174;0.0175)	649					B4DVC6|Q92957|Q92975	Missense_Mutation	SNP	ENST00000337273.5	37	c.1947G>A	CCDS43329.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.046547	0.36085	.	.	ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351;ENST00000519220	T;T;T;T	0.27720	1.65;1.65;1.65;1.65	5.62	5.62	0.85841	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.27134	0.0665	L	0.37897	1.145	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.16722	0.016;0.008	T	0.11227	-1.0596	10	0.09338	T	0.73	-20.585	20.0205	0.97499	0.0:0.0:1.0:0.0	.	599;649	Q92973-3;Q92973	.;TNPO1_HUMAN	I	649;599;599;641;160	ENSP00000336712:M649I;ENSP00000398524:M599I;ENSP00000428899:M599I;ENSP00000425118:M641I	ENSP00000336712:M649I	M	+	3	0	TNPO1	72225010	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.341000	0.97041	2.801000	0.96364	0.650000	0.86243	ATG		0.378	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000218577.3		NM_002270		4	25	0	0	0	0.184627	0	4	25		
CMYA5	202333	broad.mit.edu	37	5	79026793	79026793	+	Silent	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr5:79026793G>A	ENST00000446378.2	+	2	2236	c.2205G>A	c.(2203-2205)gaG>gaA	p.E735E		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	735					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CATCAGAAGAGAAGGAAGACA	0.463																																						uc003kgc.2		NaN																	0				ovary(6)|pancreas(2)|lung(1)	9						c.(2203-2205)GAG>GAA		cardiomyopathy associated 5							93.0	90.0	91.0					5																	79026793		1984	4170	6154	SO:0001819	synonymous_variant	202333					perinuclear region of cytoplasm		g.chr5:79026793G>A	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.2205G>A	5.37:g.79026793G>A							p.E735E	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	2277	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	735					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	37	c.2205G>A	CCDS47238.1																																																																																				0.463	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1		NM_153610		13	49	0	0	0	0.175082	0	13	49		
GPR98	84059	broad.mit.edu	37	5	90078972	90078972	+	Silent	SNP	A	A	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr5:90078972A>G	ENST00000405460.2	+	66	13359	c.13263A>G	c.(13261-13263)ccA>ccG	p.P4421P	GPR98_ENST00000425867.2_Silent_p.P82P	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4421	Calx-beta 30. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCATGATCCCAGTGGTGAGGC	0.448																																						uc003kju.2		NaN																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(13261-13263)CCA>CCG		G protein-coupled receptor 98 precursor							207.0	203.0	204.0					5																	90078972		2041	4200	6241	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90078972A>G	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.13263A>G	5.37:g.90078972A>G						GPR98_uc003kjt.2_Silent_p.P2127P|GPR98_uc003kjw.2_Silent_p.P82P	p.P4421P	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	66	13359	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	4421			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.13263A>G	CCDS47246.1																																																																																				0.448	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2		NM_032119		43	168	0	0	0	0.139131	0	43	168		
CAST	831	broad.mit.edu	37	5	96090429	96090429	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr5:96090429G>A	ENST00000341926.3	+	20	1607	c.1445G>A	c.(1444-1446)aGa>aAa	p.R482K	CAST_ENST00000510756.1_Missense_Mutation_p.R543K|CAST_ENST00000395812.2_Missense_Mutation_p.R524K|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000309190.5_Missense_Mutation_p.R460K|CAST_ENST00000511049.1_Missense_Mutation_p.R468K|CAST_ENST00000338252.3_Missense_Mutation_p.R469K|CAST_ENST00000395813.1_Missense_Mutation_p.R565K|CAST_ENST00000325674.7_Missense_Mutation_p.R530K|CAST_ENST00000511782.1_Missense_Mutation_p.R468K|CAST_ENST00000504465.1_Missense_Mutation_p.R410K|CAST_ENST00000508830.1_Missense_Mutation_p.R565K|CAST_ENST00000515663.1_Missense_Mutation_p.R205K|CAST_ENST00000509903.1_Missense_Mutation_p.R447K|CAST_ENST00000359176.4_Missense_Mutation_p.R546K|CAST_ENST00000508579.1_Missense_Mutation_p.R197K|CAST_ENST00000508608.1_Missense_Mutation_p.R528K			P20810	ICAL_HUMAN	calpastatin	482					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		CCTGATTATAGATTAGAAGAG	0.348																																						uc003klz.1		NaN																	0				central_nervous_system(3)|ovary(1)|kidney(1)	5						c.(1444-1446)AGA>AAA		calpastatin isoform i							99.0	110.0	106.0					5																	96090429		2203	4300	6503	SO:0001583	missense	831						calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding	g.chr5:96090429G>A	AF327443	CCDS4082.1, CCDS54882.1, CCDS54883.1, CCDS75279.1	5q15	2012-09-20			ENSG00000153113	ENSG00000153113			1515	protein-coding gene	gene with protein product		114090				8340353, 14685690, 15820218	Standard	NM_173060		Approved		uc003klx.3	P20810	OTTHUMG00000128413	ENST00000341926.3:c.1445G>A	5.37:g.96090429G>A	ENSP00000339914:p.Arg482Lys					CAST_uc003klt.2_Missense_Mutation_p.R469K|CAST_uc003klu.2_Missense_Mutation_p.R565K|CAST_uc003klv.2_Missense_Mutation_p.R543K|CAST_uc003klw.2_Missense_Mutation_p.R546K|CAST_uc003klx.2_Missense_Mutation_p.R524K|CAST_uc003kly.2_Missense_Mutation_p.R530K|CAST_uc011cuo.1_Missense_Mutation_p.R528K|CAST_uc011cuq.1_Missense_Mutation_p.R330K|CAST_uc011cur.1_Missense_Mutation_p.R468K|CAST_uc011cus.1_Missense_Mutation_p.R469K|CAST_uc003kma.1_Missense_Mutation_p.R441K|CAST_uc011cut.1_Missense_Mutation_p.R410K|CAST_uc003kmb.2_Missense_Mutation_p.R428K|CAST_uc003kmc.2_Missense_Mutation_p.R482K|CAST_uc003kmd.2_Missense_Mutation_p.R460K|CAST_uc003kme.2_Missense_Mutation_p.R441K|CAST_uc003kmf.2_Missense_Mutation_p.R447K|CAST_uc003kmh.2_Missense_Mutation_p.R197K|CAST_uc010jbj.2_Missense_Mutation_p.R197K|CAST_uc010jbk.2_Missense_Mutation_p.R197K|CAST_uc010jbl.1_Missense_Mutation_p.R205K|CAST_uc003kmi.2_RNA|CAST_uc003kmj.2_Missense_Mutation_p.R205K|CAST_uc003kmk.2_5'Flank	p.R482K	NM_001042443	NP_001035908	P20810	ICAL_HUMAN		all cancers(79;6.85e-15)	20	1607	+		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)	482			Inhibitory domain 3.		B7Z468|G5E946|G5E9D3|O95360|Q05DE8|Q7Z4K0|Q96D08|Q9H1Z5	Missense_Mutation	SNP	ENST00000341926.3	37	c.1445G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.77|18.77	3.695117|3.695117	0.68386|0.68386	.|.	.|.	ENSG00000153113|ENSG00000153113	ENST00000437034|ENST00000338252;ENST00000508830;ENST00000395813;ENST00000359176;ENST00000325674;ENST00000395812;ENST00000510756;ENST00000508608;ENST00000341926;ENST00000511049;ENST00000309190;ENST00000510156;ENST00000504465;ENST00000509903;ENST00000511782;ENST00000508579;ENST00000515663	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.31769	.|1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.62877|0.62877	0.2464|0.2464	M|M	0.90870|0.90870	3.155|3.155	0.49130|0.49130	D|D	0.99975|0.99975	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.89917	.|0.99;0.998;0.974;0.967;1.0;0.974;0.996;0.998;0.988;0.988;0.998;0.988;0.996;0.988;0.968;0.998;0.988	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.91635	.|0.994;0.997;0.975;0.963;0.999;0.975;0.997;0.997;0.992;0.99;0.997;0.992;0.995;0.992;0.958;0.995;0.992	T|T	0.65088|0.65088	-0.6253|-0.6253	5|10	.|0.24483	.|T	.|0.36	-26.4662|-26.4662	16.3704|16.3704	0.83355|0.83355	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|410;330;528;205;233;205;468;447;460;441;482;530;524;546;543;565;469	.|E9PDE4;B7Z8S8;B7Z468;E7EQA0;Q86YM9;E7EPY6;E7EVY3;E9PCH5;G5E946;P20810-4;P20810;P20810-5;G5E9D3;P20810-7;E7ESM9;P20810-6;P20810-2	.|.;.;.;.;.;.;.;.;.;.;ICAL_HUMAN;.;.;.;.;.;.	N|K	234|469;565;565;546;530;524;543;528;482;468;460;482;410;447;468;197;205	.|ENSP00000343421:R469K;ENSP00000425721:R565K;ENSP00000379158:R565K;ENSP00000352098:R546K;ENSP00000320319:R530K;ENSP00000379157:R524K;ENSP00000422176:R543K;ENSP00000422677:R528K;ENSP00000339914:R482K;ENSP00000421130:R468K;ENSP00000312523:R460K;ENSP00000422325:R482K;ENSP00000425670:R410K;ENSP00000426946:R447K;ENSP00000423638:R468K;ENSP00000425787:R197K;ENSP00000422929:R205K	.|ENSP00000312523:R460K	D|R	+|+	1|2	0|0	CAST|CAST	96116185|96116185	0.999000|0.999000	0.42202|0.42202	0.703000|0.703000	0.30354|0.30354	0.445000|0.445000	0.32107|0.32107	5.482000|5.482000	0.66833|0.66833	2.583000|2.583000	0.87209|0.87209	0.650000|0.650000	0.86243|0.86243	GAT|AGA		0.348	CAST-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000250199.2		NM_173062		7	30	0	0	0	0.047766	0	7	30		
PCDHB1	29930	broad.mit.edu	37	5	140431442	140431442	+	Silent	SNP	T	T	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr5:140431442T>C	ENST00000306549.3	+	1	464	c.387T>C	c.(385-387)aaT>aaC	p.N129N		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	129	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAATGACAATGCCCCAGTTT	0.542																																						uc003lik.1		NaN																	0					0						c.(385-387)AAT>AAC		protocadherin beta 1 precursor							38.0	41.0	40.0					5																	140431442		2203	4300	6503	SO:0001819	synonymous_variant	29930				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140431442T>C	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.387T>C	5.37:g.140431442T>C							p.N129N	NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	464	+			129			Cadherin 1.|Extracellular (Potential).		Q2M257	Silent	SNP	ENST00000306549.3	37	c.387T>C	CCDS4243.1																																																																																				0.542	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2		NM_013340		11	15	0	0	0	0.09319	0	11	15		
PCDHGA10	56106	broad.mit.edu	37	5	140794089	140794089	+	Silent	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr5:140794089C>T	ENST00000398610.2	+	1	1347	c.1347C>T	c.(1345-1347)atC>atT	p.I449I	PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	449	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCAGATATCAATGACAACC	0.498																																						uc003lkl.1		NaN																	0					0						c.(1345-1347)ATC>ATT		protocadherin gamma subfamily A, 10 isoform 1							202.0	212.0	208.0					5																	140794089		2066	4197	6263	SO:0001819	synonymous_variant	56106				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140794089C>T		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.1347C>T	5.37:g.140794089C>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Silent_p.I449I	p.I449I	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1347	+			449			Cadherin 4.|Extracellular (Potential).		Q9Y5E0	Silent	SNP	ENST00000398610.2	37	c.1347C>T	CCDS47292.1																																																																																				0.498	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1		NM_018913		27	113	0	0	0	0.163468	0	27	113		
PCDHGB7	56099	broad.mit.edu	37	5	140798381	140798381	+	Missense_Mutation	SNP	A	A	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr5:140798381A>T	ENST00000398594.2	+	1	955	c.955A>T	c.(955-957)Ata>Tta	p.I319L	PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	319	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACGATAAACATAGAAGCAAA	0.398																																						uc003lkn.1		NaN																	0				ovary(2)	2						c.(955-957)ATA>TTA		protocadherin gamma subfamily B, 7 isoform 1							71.0	67.0	68.0					5																	140798381		1875	4103	5978	SO:0001583	missense	56099				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140798381A>T	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.955A>T	5.37:g.140798381A>T	ENSP00000381594:p.Ile319Leu					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Missense_Mutation_p.I319L|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank	p.I319L	NM_018927	NP_061750	Q9Y5F8	PCDGJ_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1100	+			319			Extracellular (Potential).|Cadherin 3.		Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	c.955A>T	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	a	6.032	0.374301	0.11409	.	.	ENSG00000254122	ENST00000398594	T	0.65732	-0.17	5.7	0.871	0.19107	Cadherin (5);Cadherin-like (1);	0.298040	0.17207	N	0.182886	T	0.46521	0.1397	L	0.32530	0.975	0.09310	N	0.999993	B;B	0.09022	0.002;0.002	B;B	0.13407	0.009;0.005	T	0.39542	-0.9609	10	0.54805	T	0.06	.	7.3551	0.26714	0.3569:0.1155:0.5276:0.0	.	319;319	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	L	319	ENSP00000381594:I319L	ENSP00000381594:I319L	I	+	1	0	PCDHGB7	140778565	0.002000	0.14202	0.169000	0.22859	0.375000	0.29983	0.002000	0.13061	0.214000	0.20742	-0.366000	0.07423	ATA		0.398	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1		NM_018927		7	1	0	0	0	0.02938	0	7	1		
PCDH1	5097	broad.mit.edu	37	5	141233836	141233836	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr5:141233836C>T	ENST00000287008.3	-	5	3632	c.3485G>A	c.(3484-3486)gGa>gAa	p.G1162E	PCDH1_ENST00000503492.1_3'UTR	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	0					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CTCCTGCCCTCCTCGGTCCTG	0.677																																					Ovarian(132;1609 1739 4190 14731 45037)	uc003llp.2		NaN																	0				ovary(5)	5						c.(3484-3486)GGA>GAA		protocadherin 1 isoform 2 precursor							13.0	15.0	14.0					5																	141233836		2198	4296	6494	SO:0001583	missense	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141233836C>T	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000287008.3:c.3485G>A	5.37:g.141233836C>T	ENSP00000287008:p.Gly1162Glu						p.G1162E	NM_032420	NP_115796	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	5	3602	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	Error:Variant_position_missing_in_Q08174_after_alignment					Q8IUP2	Missense_Mutation	SNP	ENST00000287008.3	37	c.3485G>A	CCDS4267.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.234223	0.58886	.	.	ENSG00000156453	ENST00000287008	T	0.50277	0.75	4.44	4.44	0.53790	.	0.189390	0.25040	N	0.033607	T	0.55986	0.1955	L	0.54323	1.7	0.80722	D	1	D	0.52996	0.957	P	0.53954	0.738	T	0.57323	-0.7831	10	0.45353	T	0.12	.	14.8964	0.70646	0.0:1.0:0.0:0.0	.	1162	Q08174-2	.	E	1162	ENSP00000287008:G1162E	ENSP00000287008:G1162E	G	-	2	0	PCDH1	141214020	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.734000	0.47368	2.178000	0.69098	0.313000	0.20887	GGA		0.677	PCDH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320587.2		NM_032420		6	12	0	0	0	0.02938	0	6	12		
PCDH1	5097	broad.mit.edu	37	5	141244913	141244913	+	Missense_Mutation	SNP	C	C	T	rs149443924		TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr5:141244913C>T	ENST00000394536.3	-	3	1122	c.983G>A	c.(982-984)cGt>cAt	p.R328H	PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000287008.3_Missense_Mutation_p.R328H|PCDH1_ENST00000456271.1_Missense_Mutation_p.R316H|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000536585.1_Missense_Mutation_p.R306H	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	328	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TCGAAGAAGACGCCTCACAAC	0.537																																					Ovarian(132;1609 1739 4190 14731 45037)	uc003llq.2		NaN																	0				ovary(5)	5						c.(982-984)CGT>CAT		protocadherin 1 isoform 1 precursor		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	95.0	98.0	97.0		983,983	4.3	1.0	5	dbSNP_134	97	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PCDH1	NM_002587.3,NM_032420.2	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	328/1061,328/1238	141244913	1,13005	2203	4300	6503	SO:0001583	missense	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141244913C>T	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.983G>A	5.37:g.141244913C>T	ENSP00000378043:p.Arg328His					PCDH1_uc003llp.2_Missense_Mutation_p.R328H|PCDH1_uc011dbf.1_Missense_Mutation_p.R306H	p.R328H	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	3	1100	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	328			Extracellular (Potential).|Cadherin 3.		Q8IUP2	Missense_Mutation	SNP	ENST00000394536.3	37	c.983G>A	CCDS43375.1	.	.	.	.	.	.	.	.	.	.	c	16.53	3.147855	0.57151	0.0	1.16E-4	ENSG00000156453	ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68	5.16	4.29	0.51040	Cadherin (5);Cadherin-like (1);	0.000000	0.50627	D	0.000101	T	0.57710	0.2072	L	0.41236	1.265	0.53688	D	0.999979	D;D	0.89917	1.0;1.0	D;D	0.75484	0.975;0.986	T	0.60712	-0.7209	10	0.87932	D	0	.	11.4625	0.50219	0.0:0.9132:0.0:0.0868	.	328;328	Q08174;Q08174-2	PCDH1_HUMAN;.	H	328;328;316;339;306	ENSP00000287008:R328H;ENSP00000378043:R328H;ENSP00000403497:R316H;ENSP00000350122:R339H;ENSP00000438825:R306H	ENSP00000287008:R328H	R	-	2	0	PCDH1	141225097	0.998000	0.40836	0.982000	0.44146	0.360000	0.29518	3.789000	0.55454	1.428000	0.47296	-0.147000	0.13772	CGT		0.537	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1		NM_032420		44	44	0	0	0	0.139131	0	44	44		
GPR151	134391	broad.mit.edu	37	5	145894746	145894746	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr5:145894746C>T	ENST00000311104.2	-	1	1007	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGAACTCTTCCGACATCACA	0.478																																					Pancreas(78;420 1386 18535 37114 49710)	uc003lod.1		NaN																	0				ovary(1)|pancreas(1)	2						c.(931-933)GAA>AAA		G protein-coupled receptor 151							74.0	75.0	75.0					5																	145894746		2203	4300	6503	SO:0001583	missense	134391					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr5:145894746C>T	AY255557	CCDS34266.1	5q32	2012-08-21						"""GPCR / Class A : Orphans"""	23624	protein-coding gene	gene with protein product	"""galanin receptor 4"""					12679517	Standard	NM_194251		Approved	PGR7, GALR4	uc003lod.1	Q8TDV0		ENST00000311104.2:c.931G>A	5.37:g.145894746C>T	ENSP00000308733:p.Glu311Lys						p.E311K	NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	931	-			311			Cytoplasmic (Potential).		Q86SN8|Q8NGV2	Missense_Mutation	SNP	ENST00000311104.2	37	c.931G>A	CCDS34266.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527531	0.64860	.	.	ENSG00000173250	ENST00000311104	T	0.30714	1.52	6.17	5.31	0.75309	.	0.108661	0.64402	D	0.000009	T	0.34366	0.0895	M	0.75447	2.3	0.45216	D	0.998226	P	0.43094	0.799	B	0.37943	0.261	T	0.19745	-1.0296	10	0.31617	T	0.26	.	14.4829	0.67594	0.0:0.9292:0.0:0.0708	.	311	Q8TDV0	GP151_HUMAN	K	311	ENSP00000308733:E311K	ENSP00000308733:E311K	E	-	1	0	GPR151	145874939	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	6.495000	0.73665	1.635000	0.50512	0.655000	0.94253	GAA		0.478	GPR151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373457.1		NM_194251		7	8	0	0	0	0.02938	0	7	8		
SLU7	10569	broad.mit.edu	37	5	159831861	159831861	+	Silent	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr5:159831861C>T	ENST00000297151.4	-	14	1806	c.1419G>A	c.(1417-1419)gaG>gaA	p.E473E		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	473					alternative mRNA splicing, via spliceosome (GO:0000380)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	pre-mRNA 3'-splice site binding (GO:0030628)|second spliceosomal transesterification activity (GO:0000386)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCCCAGTTATCTCATTTATAA	0.348																																						uc003lyg.2		NaN																	0				ovary(1)	1						c.(1417-1419)GAG>GAA		step II splicing factor SLU7							71.0	71.0	71.0					5																	159831861		2202	4300	6502	SO:0001819	synonymous_variant	10569				alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding	g.chr5:159831861C>T	AF101074	CCDS4352.1	5q33.3	2010-04-13			ENSG00000164609	ENSG00000164609			16939	protein-coding gene	gene with protein product	zinc knuckle motif containing	605974				10197984, 15728250	Standard	NM_006425		Approved	9G8	uc003lyg.3	O95391	OTTHUMG00000130324	ENST00000297151.4:c.1419G>A	5.37:g.159831861C>T							p.E473E	NM_006425	NP_006416	O95391	SLU7_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		14	1574	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	473					D3DQK2|Q3LUJ0|Q3LUJ1|Q6RXQ5|Q96FM9	Silent	SNP	ENST00000297151.4	37	c.1419G>A	CCDS4352.1																																																																																				0.348	SLU7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252673.1		NM_006425		11	11	0	0	0	0.11911	0	11	11		
MRS2	57380	broad.mit.edu	37	6	24416692	24416692	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr6:24416692G>C	ENST00000378386.3	+	7	880	c.787G>C	c.(787-789)Gag>Cag	p.E263Q	MRS2_ENST00000483634.1_3'UTR|MRS2_ENST00000535061.1_Missense_Mutation_p.E213Q|MRS2_ENST00000378353.1_Missense_Mutation_p.E263Q|MRS2_ENST00000274747.7_3'UTR|MRS2_ENST00000543597.1_5'UTR|MRS2_ENST00000443868.2_Missense_Mutation_p.E266Q	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN	MRS2 magnesium transporter	263						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						GGATGAGGAAGAGTTGCTAGA	0.294																																						uc003neb.2		NaN																	0					0						c.(787-789)GAG>CAG		MRS2-like, magnesium homeostasis factor							83.0	94.0	90.0					6																	24416692		2202	4295	6497	SO:0001583	missense	57380				ion transport	integral to membrane|mitochondrial inner membrane		g.chr6:24416692G>C	AF288288	CCDS4552.1, CCDS69055.1, CCDS69056.1, CCDS75408.1	6p22.3-p22.1	2013-05-03	2013-05-03	2008-01-18	ENSG00000124532	ENSG00000124532			13785	protein-coding gene	gene with protein product			"""MRS2-like, magnesium homeostasis factor (S. cerevisiae)"", ""MRS2 magnesium homeostasis factor homolog (S. cerevisiae)"""	MRS2L			Standard	XM_005249242		Approved		uc003neb.3	Q9HD23	OTTHUMG00000014355	ENST00000378386.3:c.787G>C	6.37:g.24416692G>C	ENSP00000367637:p.Glu263Gln					MRS2_uc003nea.2_Missense_Mutation_p.E263Q|MRS2_uc011djl.1_Missense_Mutation_p.E266Q|MRS2_uc011djm.1_RNA|MRS2_uc011djn.1_Missense_Mutation_p.E213Q|MRS2_uc003nec.2_Missense_Mutation_p.E140Q	p.E263Q	NM_020662	NP_065713	Q9HD23	MRS2_HUMAN			7	909	+			263			Mitochondrial matrix (Potential).		A8K4U3|B3KNN2|B4DQL2|Q5T3Y1|Q6NTG4|Q96KF8|Q9BVP1	Missense_Mutation	SNP	ENST00000378386.3	37	c.787G>C	CCDS4552.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.0|25.0	4.590116|4.590116	0.86851|0.86851	.|.	.|.	ENSG00000124532|ENSG00000124532	ENST00000535061;ENST00000378386;ENST00000378353;ENST00000443868|ENST00000446191	T;T;T;T|.	0.52983|.	1.27;1.16;0.64;1.15|.	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	0.049585|.	0.85682|.	D|.	0.000000|.	T|T	0.69269|0.69269	0.3092|0.3092	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.984;0.993;0.995;1.0|.	P;P;D;D|.	0.77557|.	0.699;0.88;0.929;0.99|.	T|T	0.66705|0.66705	-0.5856|-0.5856	10|5	0.59425|.	D|.	0.04|.	-13.1561|-13.1561	19.3897|19.3897	0.94576|0.94576	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	213;266;263;263|.	F5GWH3;B4DQL2;Q9HD23;Q9HD23-2|.	.;.;MRS2_HUMAN;.|.	Q|N	213;263;263;266|81	ENSP00000441839:E213Q;ENSP00000367637:E263Q;ENSP00000367604:E263Q;ENSP00000399585:E266Q|.	ENSP00000367604:E263Q|.	E|K	+|+	1|3	0|2	MRS2|MRS2	24524671|24524671	1.000000|1.000000	0.71417|0.71417	0.573000|0.573000	0.28510|0.28510	0.983000|0.983000	0.72400|0.72400	9.374000|9.374000	0.97172|0.97172	2.652000|2.652000	0.90054|0.90054	0.563000|0.563000	0.77884|0.77884	GAG|AAG		0.294	MRS2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040002.1				41	7	0	0	0	0.139131	0	41	7		
SLC26A8	116369	broad.mit.edu	37	6	35928812	35928812	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr6:35928812G>C	ENST00000490799.1	-	13	1879	c.1526C>G	c.(1525-1527)tCa>tGa	p.S509*	SLC26A8_ENST00000355574.2_Nonsense_Mutation_p.S509*|SLC26A8_ENST00000394602.2_Nonsense_Mutation_p.S404*	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						AGAAACTACTGAGATAATTAG	0.413																																						uc003olm.2		NaN																	0				ovary(2)	2						c.(1525-1527)TCA>TGA		solute carrier family 26, member 8 isoform a							140.0	123.0	129.0					6																	35928812		2203	4300	6503	SO:0001587	stop_gained	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35928812G>C	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.1526C>G	6.37:g.35928812G>C	ENSP00000417638:p.Ser509*					SLC26A8_uc010jwa.2_RNA|SLC26A8_uc003olk.2_Nonsense_Mutation_p.S91*|SLC26A8_uc003oln.2_Nonsense_Mutation_p.S509*|SLC26A8_uc003oll.2_Nonsense_Mutation_p.S404*	p.S509*	NM_052961	NP_443193	Q96RN1	S26A8_HUMAN			13	1637	-			509			Helical; (Potential).			Nonsense_Mutation	SNP	ENST00000490799.1	37	c.1526C>G	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	G	38	6.676671	0.97755	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	.	.	.	5.94	5.06	0.68205	.	0.504295	0.18466	N	0.140368	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.1757	0.59626	0.0:0.1599:0.8401:0.0	.	.	.	.	X	509;404;509	.	ENSP00000347778:S509X	S	-	2	0	SLC26A8	36036790	0.710000	0.27896	0.006000	0.13384	0.013000	0.08279	5.449000	0.66619	1.512000	0.48834	0.650000	0.86243	TCA		0.413	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2				6	20	0	0	0	0.038147	0	6	20		
CRIP3	401262	broad.mit.edu	37	6	43273792	43273792	+	Missense_Mutation	SNP	T	T	C	rs139840752	byFrequency	TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr6:43273792T>C	ENST00000274990.4	-	7	570	c.566A>G	c.(565-567)cAt>cGt	p.H189R	CRIP3_ENST00000372569.3_Intron|ZNF318_ENST00000607252.1_5'Flank			Q6Q6R5	CRIP3_HUMAN	cysteine-rich protein 3	189					T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			GTGTCTGGGATGGGGCTGCCC	0.557																																						uc010jyn.1		NaN																	0				skin(1)	1						c.(565-567)CAT>CGT		cysteine-rich protein 3							65.0	68.0	67.0					6																	43273792		2203	4300	6503	SO:0001583	missense	401262					cytoplasm	zinc ion binding	g.chr6:43273792T>C	AY555741	CCDS4894.2	6p21	2008-02-05			ENSG00000146215	ENSG00000146215			17751	protein-coding gene	gene with protein product						15380775	Standard	NM_206922		Approved	TLP-A, bA480N24.2, TLP	uc003ouu.1	Q6Q6R5	OTTHUMG00000014727	ENST00000274990.4:c.566A>G	6.37:g.43273792T>C	ENSP00000274990:p.His189Arg					CRIP3_uc003ouu.1_Intron	p.H189R	NM_206922	NP_996805	Q6Q6R5	CRIP3_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		7	566	-			189					A2A436|Q5T043|Q6Q6R4|Q6Q6R6|Q6Q6R7	Missense_Mutation	SNP	ENST00000274990.4	37	c.566A>G		.	.	.	.	.	.	.	.	.	.	T	12.94	2.089873	0.36855	.	.	ENSG00000146215	ENST00000274990	T	0.70869	-0.52	5.49	4.33	0.51752	.	.	.	.	.	T	0.41305	0.1153	.	.	.	0.22552	N	0.998993	B	0.06786	0.001	B	0.01281	0.0	T	0.44143	-0.9347	8	0.72032	D	0.01	-49.2072	8.4614	0.32929	0.0:0.0991:0.0:0.9009	.	189	Q6Q6R5	CRIP3_HUMAN	R	189	ENSP00000274990:H189R	ENSP00000274990:H189R	H	-	2	0	CRIP3	43381770	1.000000	0.71417	0.965000	0.40720	0.879000	0.50718	3.429000	0.52800	0.908000	0.36671	0.533000	0.62120	CAT		0.557	CRIP3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000313968.1				119	27	0	0	0	0.139131	0	119	27		
CLIC5	53405	broad.mit.edu	37	6	45922939	45922939	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr6:45922939G>A	ENST00000185206.6	-	2	735	c.583C>T	c.(583-585)Cag>Tag	p.Q195*	CLIC5_ENST00000339561.6_Nonsense_Mutation_p.Q36*|CLIC5_ENST00000544153.1_Nonsense_Mutation_p.Q36*	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	195					auditory receptor cell stereocilium organization (GO:0060088)|chloride transport (GO:0006821)|diet induced thermogenesis (GO:0002024)|female pregnancy (GO:0007565)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|sensory perception of sound (GO:0007605)|transport (GO:0006810)	actin cytoskeleton (GO:0015629)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|stereocilium (GO:0032420)	voltage-gated chloride channel activity (GO:0005247)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						AAGAGGCGCTGAGAGAAAGGA	0.478																																						uc003oxv.3		NaN																	0				ovary(1)|skin(1)	2						c.(583-585)CAG>TAG		chloride intracellular channel 5 isoform a							118.0	97.0	104.0					6																	45922939		2203	4300	6503	SO:0001587	stop_gained	53405				female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity	g.chr6:45922939G>A	AF216941	CCDS4914.1, CCDS47438.1, CCDS59022.1	6p12.3	2014-03-14			ENSG00000112782	ENSG00000112782		"""Ion channels / Chloride channels : Intracellular"""	13517	protein-coding gene	gene with protein product		607293				10793131	Standard	NM_001114086		Approved		uc003oxv.3	Q9NZA1	OTTHUMG00000014775	ENST00000185206.6:c.583C>T	6.37:g.45922939G>A	ENSP00000185206:p.Gln195*					CLIC5_uc003oxu.3_Nonsense_Mutation_p.Q36*|CLIC5_uc003oxx.2_Nonsense_Mutation_p.Q36*	p.Q195*	NM_001114086	NP_001107558	Q9NZA1	CLIC5_HUMAN			2	689	-			195			Helical; Note=After insertion into the membrane; (Potential).		B3KUF1|Q5T4Z0|Q8NBY3|Q96JT5|Q9BWZ0	Nonsense_Mutation	SNP	ENST00000185206.6	37	c.583C>T	CCDS47438.1	.	.	.	.	.	.	.	.	.	.	G	38	7.222659	0.98146	.	.	ENSG00000112782	ENST00000185206;ENST00000339561;ENST00000544153	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.2208	0.89901	0.0:0.0:1.0:0.0	.	.	.	.	X	195;36;36	.	ENSP00000185206:Q195X	Q	-	1	0	CLIC5	46030917	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.380000	0.97202	2.676000	0.91093	0.650000	0.86243	CAG		0.478	CLIC5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040761.1				15	11	0	0	0	0.189662	0	15	11		
KCNQ5	56479	broad.mit.edu	37	6	73843246	73843246	+	Silent	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr6:73843246C>T	ENST00000370398.1	+	10	1459	c.1350C>T	c.(1348-1350)acC>acT	p.T450T	KCNQ5_ENST00000355635.3_Silent_p.T451T|KCNQ5_ENST00000355194.4_Silent_p.T450T|KCNQ5-AS1_ENST00000429832.1_RNA|KCNQ5_ENST00000414165.2_Intron|KCNQ5_ENST00000403813.2_Silent_p.T441T|KCNQ5_ENST00000342056.2_Silent_p.T469T|KCNQ5_ENST00000402622.2_Silent_p.T460T	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	450					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	CCCCAAGCACCGACATCACAG	0.587																																					GBM(142;1375 1859 14391 23261 44706)	uc003pgk.2		NaN																	0				ovary(4)|large_intestine(2)|skin(1)	7						c.(1348-1350)ACC>ACT		potassium voltage-gated channel, KQT-like							95.0	95.0	95.0					6																	73843246		2203	4300	6503	SO:0001819	synonymous_variant	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73843246C>T	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.1350C>T	6.37:g.73843246C>T						KCNQ5_uc011dyh.1_Silent_p.T469T|KCNQ5_uc011dyi.1_Silent_p.T460T|KCNQ5_uc010kat.2_Silent_p.T441T|KCNQ5_uc011dyj.1_Intron|KCNQ5_uc011dyk.1_Silent_p.T200T	p.T450T	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	10	1697	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	450					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Silent	SNP	ENST00000370398.1	37	c.1350C>T	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	C	9.220	1.033242	0.19590	.	.	ENSG00000185760	ENST00000427928	.	.	.	5.59	-3.51	0.04696	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.4816	0.02438	0.1685:0.252:0.3185:0.261	.	.	.	.	X	42	.	.	R	+	1	2	KCNQ5	73899967	0.000000	0.05858	0.985000	0.45067	0.997000	0.91878	-3.971000	0.00322	-0.388000	0.07797	0.563000	0.77884	CGA		0.587	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3		NM_019842		47	56	0	0	0	0.139131	0	47	56		
MANEA	79694	broad.mit.edu	37	6	96054015	96054015	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr6:96054015A>G	ENST00000358812.4	+	5	1257	c.1123A>G	c.(1123-1125)Aac>Gac	p.N375D		NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	375	Catalytic. {ECO:0000305}.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		AAACACTCGGAACCGAATCAA	0.413																																						uc003poo.1		NaN																	0				ovary(2)|breast(1)	3						c.(1123-1125)AAC>GAC		mannosidase, endo-alpha							98.0	106.0	103.0					6																	96054015		2203	4300	6503	SO:0001583	missense	79694				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity	g.chr6:96054015A>G	AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.1123A>G	6.37:g.96054015A>G	ENSP00000351669:p.Asn375Asp						p.N375D	NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.148)	5	1263	+		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)	375			Catalytic (Probable).|Lumenal (Potential).		A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Missense_Mutation	SNP	ENST00000358812.4	37	c.1123A>G	CCDS5032.1	.	.	.	.	.	.	.	.	.	.	A	17.62	3.434528	0.62955	.	.	ENSG00000172469	ENST00000358812	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.57666	0.2069	L	0.46819	1.47	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.55573	-0.8120	9	0.09843	T	0.71	-24.7699	16.0034	0.80327	1.0:0.0:0.0:0.0	.	375	Q5SRI9	MANEA_HUMAN	D	375	.	ENSP00000351669:N375D	N	+	1	0	MANEA	96160736	1.000000	0.71417	0.978000	0.43139	0.362000	0.29581	6.883000	0.75595	2.371000	0.80710	0.533000	0.62120	AAC		0.413	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043644.1		NM_024641		47	39	0	0	0	0.139131	0	47	39		
NUS1	116150	broad.mit.edu	37	6	118028140	118028140	+	Missense_Mutation	SNP	C	C	T	rs150953098		TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr6:118028140C>T	ENST00000368494.3	+	5	1013	c.844C>T	c.(844-846)Cgt>Tgt	p.R282C		NM_138459.3	NP_612468.1	Q96E22	NGBR_HUMAN	nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)	282					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|intracellular cholesterol transport (GO:0032367)|protein glycosylation (GO:0006486)|sterol homeostasis (GO:0055092)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring alkyl or aryl (other than methyl) groups (GO:0016765)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|prostate(2)	8		all_cancers(87;0.0395)|all_epithelial(87;0.0301)		GBM - Glioblastoma multiforme(226;0.02)|OV - Ovarian serous cystadenocarcinoma(136;0.115)|all cancers(137;0.146)		CTCTGCCCTTCGTCAATATGC	0.433													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20739	0.0		0.0	False		,,,				2504	0.0					uc003pxw.2		NaN																	0				central_nervous_system(1)	1						c.(844-846)CGT>TGT		nuclear undecaprenyl pyrophosphate synthase 1		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	102.0	104.0	104.0		844	4.1	1.0	6	dbSNP_134	104	0,8592		0,0,4296	no	missense	NUS1	NM_138459.3	180	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	282/294	118028140	1,12997	2203	4296	6499	SO:0001583	missense	116150				angiogenesis|cell differentiation	integral to membrane	receptor activity|transferase activity, transferring alkyl or aryl (other than methyl) groups	g.chr6:118028140C>T	BC013026	CCDS5118.1	6q22.1	2012-12-13	2006-11-24	2006-11-24	ENSG00000153989	ENSG00000153989			21042	protein-coding gene	gene with protein product	"""Nogo-B receptor"", ""transport and golgi organization 14 homolog (Drosophila)"""	610463	"""chromosome 6 open reading frame 68"""	C6orf68			Standard	NM_138459		Approved	MGC7199, NgBR, TANGO14	uc003pxw.3	Q96E22	OTTHUMG00000015458	ENST00000368494.3:c.844C>T	6.37:g.118028140C>T	ENSP00000357480:p.Arg282Cys						p.R282C	NM_138459	NP_612468	Q96E22	NGBR_HUMAN		GBM - Glioblastoma multiforme(226;0.02)|OV - Ovarian serous cystadenocarcinoma(136;0.115)|all cancers(137;0.146)	5	1061	+		all_cancers(87;0.0395)|all_epithelial(87;0.0301)	282			Cytoplasmic (Potential).		B2RWQ4|O00251	Missense_Mutation	SNP	ENST00000368494.3	37	c.844C>T	CCDS5118.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.859297	0.32884	2.27E-4	0.0	ENSG00000153989	ENST00000368494	T	0.56275	0.47	5.83	4.06	0.47325	.	0.296697	0.40222	N	0.001154	T	0.21590	0.0520	L	0.40543	1.245	0.41929	D	0.990553	B	0.17465	0.022	B	0.15484	0.013	T	0.07966	-1.0745	10	0.36615	T	0.2	-0.1317	5.4575	0.16598	0.1411:0.6435:0.0:0.2154	.	282	Q96E22	NGBR_HUMAN	C	282	ENSP00000357480:R282C	ENSP00000357480:R282C	R	+	1	0	NUS1	118134833	0.993000	0.37304	0.998000	0.56505	0.893000	0.52053	1.416000	0.34759	0.821000	0.34540	0.650000	0.86243	CGT		0.433	NUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041989.1		NM_138459		20	28	0	0	0	0.108266	0	20	28		
PTPRK	5796	broad.mit.edu	37	6	128312003	128312003	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr6:128312003C>G	ENST00000368215.3	-	21	3003	c.3004G>C	c.(3004-3006)Gat>Cat	p.D1002H	PTPRK_ENST00000368210.3_Missense_Mutation_p.D1021H|PTPRK_ENST00000368207.3_Missense_Mutation_p.D1035H|PTPRK_ENST00000368213.5_Missense_Mutation_p.D1009H|PTPRK_ENST00000368226.4_Missense_Mutation_p.D1003H|PTPRK_ENST00000368227.3_Missense_Mutation_p.D1020H|PTPRK_ENST00000532331.1_Missense_Mutation_p.D1025H			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1002	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ACTTCAGTATCATCAGGCCAA	0.348																																						uc003qbk.2		NaN																	0				ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8						c.(3004-3006)GAT>CAT		protein tyrosine phosphatase, receptor type, K							130.0	124.0	126.0					6																	128312003		2202	4298	6500	SO:0001583	missense	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128312003C>G	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.3004G>C	6.37:g.128312003C>G	ENSP00000357198:p.Asp1002His					PTPRK_uc003qbj.2_Missense_Mutation_p.D1003H|PTPRK_uc010kfc.2_Missense_Mutation_p.D1009H|PTPRK_uc011ebu.1_Missense_Mutation_p.D1025H	p.D1002H	NM_002844	NP_002835	Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	21	3371	-			1002			Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37	c.3004G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.76|15.76	2.928546|2.928546	0.52759|0.52759	.|.	.|.	ENSG00000152894|ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207|ENST00000415046	T;T;T;T;T;T;T|.	0.31769|.	1.48;1.48;1.48;1.48;1.48;1.48;1.48|.	5.88|5.88	5.01|5.01	0.66863|0.66863	Protein-tyrosine phosphatase, receptor/non-receptor type (3);|.	0.100607|.	0.64402|.	D|.	0.000002|.	T|T	0.63486|0.63486	0.2515|0.2515	M|M	0.67517|0.67517	2.055|2.055	0.80722|0.80722	D|D	1|1	P;P;D;D|.	0.89917|.	0.952;0.9;1.0;1.0|.	P;P;D;D|.	0.79108|.	0.791;0.54;0.992;0.986|.	T|T	0.65005|0.65005	-0.6273|-0.6273	10|5	0.72032|.	D|.	0.01|.	.|.	15.0497|15.0497	0.71858|0.71858	0.0:0.9316:0.0:0.0684|0.0:0.9316:0.0:0.0684	.|.	1025;1009;1002;1003|.	B7ZMG0;Q15262-3;Q15262;Q15262-2|.	.;.;PTPRK_HUMAN;.|.	H|I	1003;1020;1025;1009;1021;1002;1035|295	ENSP00000357209:D1003H;ENSP00000357210:D1020H;ENSP00000432973:D1025H;ENSP00000357196:D1009H;ENSP00000357193:D1021H;ENSP00000357198:D1002H;ENSP00000357190:D1035H|.	ENSP00000357190:D1035H|.	D|M	-|-	1|3	0|0	PTPRK|PTPRK	128353696|128353696	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.009000|0.009000	0.06853|0.06853	7.433000|7.433000	0.80362|0.80362	1.494000|1.494000	0.48533|0.48533	-0.145000|-0.145000	0.13849|0.13849	GAT|ATG		0.348	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1				12	47	0	0	0	0.146539	0	12	47		
SYNE1	23345	broad.mit.edu	37	6	152462392	152462392	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr6:152462392C>G	ENST00000367255.5	-	139	25793	c.25192G>C	c.(25192-25194)Gag>Cag	p.E8398Q	SYNE1_ENST00000423061.1_Missense_Mutation_p.E8350Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.E8350Q|SYNE1_ENST00000354674.4_Missense_Mutation_p.E576Q|SYNE1_ENST00000356820.4_Missense_Mutation_p.E2922Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.E8010Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E8398Q|SYNE1_ENST00000539504.1_Missense_Mutation_p.E553Q|SYNE1_ENST00000347037.5_5'UTR	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8398					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGGCTCTCCTCTTCCTCCTTC	0.488										HNSCC(10;0.0054)																												uc010kiw.2		NaN																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(25192-25194)GAG>CAG		spectrin repeat containing, nuclear envelope 1							174.0	148.0	157.0					6																	152462392		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152462392C>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.25192G>C	6.37:g.152462392C>G	ENSP00000356224:p.Glu8398Gln	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Missense_Mutation_p.E2922Q|SYNE1_uc003qos.3_Missense_Mutation_p.E2922Q|SYNE1_uc003qot.3_Missense_Mutation_p.E8350Q|SYNE1_uc003qou.3_Missense_Mutation_p.E8398Q|SYNE1_uc003qop.3_Missense_Mutation_p.E583Q|SYNE1_uc011eez.1_Missense_Mutation_p.E600Q|SYNE1_uc003qoq.3_Missense_Mutation_p.E600Q|SYNE1_uc003qor.3_Missense_Mutation_p.E1321Q	p.E8398Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	139	25794	-		Ovarian(120;0.0955)	8398			Potential.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.25192G>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	31	5.093143	0.94149	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.57907	0.46;4.55;1.39;0.47;0.37;0.47;0.59;2.5;1.58;4.6	5.84	5.84	0.93424	.	0.000000	0.56097	D	0.000039	T	0.62938	0.2469	L	0.55103	1.725	0.58432	D	0.999999	D;D;D;D;B	0.89917	0.999;0.999;1.0;0.999;0.382	D;D;D;D;B	0.79784	0.983;0.983;0.993;0.983;0.146	T	0.54207	-0.8328	10	0.30078	T	0.28	.	20.1277	0.97990	0.0:1.0:0.0:0.0	.	8398;8398;8350;8350;600	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	Q	8398;553;1044;8350;8398;8350;8010;2922;583;578;1343;576	ENSP00000356224:E8398Q;ENSP00000441052:E553Q;ENSP00000356226:E1044Q;ENSP00000396024:E8350Q;ENSP00000265368:E8398Q;ENSP00000390975:E8350Q;ENSP00000341887:E8010Q;ENSP00000349276:E2922Q;ENSP00000356220:E1343Q;ENSP00000346701:E576Q	ENSP00000265368:E8398Q	E	-	1	0	SYNE1	152504085	1.000000	0.71417	0.714000	0.30535	0.956000	0.61745	7.675000	0.84002	2.755000	0.94549	0.563000	0.77884	GAG		0.488	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2		NM_182961		58	16	0	0	0	0.139131	0	58	16		
SYNE1	23345	broad.mit.edu	37	6	152690184	152690184	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr6:152690184G>C	ENST00000367255.5	-	61	10331	c.9730C>G	c.(9730-9732)Caa>Gaa	p.Q3244E	SYNE1_ENST00000423061.1_Missense_Mutation_p.Q3251E|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q3251E|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q3283E|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q3244E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3244					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGGCAGCTTGTCCTTCCCAC	0.498										HNSCC(10;0.0054)																												uc010kiw.2		NaN																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(9730-9732)CAA>GAA		spectrin repeat containing, nuclear envelope 1							95.0	81.0	86.0					6																	152690184		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152690184G>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.9730C>G	6.37:g.152690184G>C	ENSP00000356224:p.Gln3244Glu	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.Q3251E|SYNE1_uc003qou.3_Missense_Mutation_p.Q3244E|SYNE1_uc010kja.1_5'UTR|SYNE1_uc003qov.2_Missense_Mutation_p.Q322E	p.Q3244E	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	61	10332	-		Ovarian(120;0.0955)	3244			Spectrin 6.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.9730C>G	CCDS5236.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.140001|5.140001	0.94560|0.94560	.|.	.|.	ENSG00000131018|ENSG00000131018	ENST00000454018|ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	.|T;T;T;T;T	.|0.48201	.|0.82;0.82;0.82;0.82;0.82	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|0.000000	.|0.64402	.|D	.|0.000015	T|T	0.42404|0.42404	0.1201|0.1201	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.63046	.|0.983;0.992;0.983;0.988	.|D;D;D;P	.|0.66497	.|0.927;0.944;0.927;0.881	T|T	0.18777|0.18777	-1.0326|-1.0326	5|10	.|0.02654	.|T	.|1	.|.	20.3363|20.3363	0.98740|0.98740	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|3244;361;3244;3251	.|Q8NF91;B7ZBC4;E7EQI5;Q8NF91-4	.|SYNE1_HUMAN;.;.;.	E|E	360|3244;3251;3244;3251;3283	.|ENSP00000356224:Q3244E;ENSP00000396024:Q3251E;ENSP00000265368:Q3244E;ENSP00000390975:Q3251E;ENSP00000341887:Q3283E	.|ENSP00000265368:Q3244E	D|Q	-|-	3|1	2|0	SYNE1|SYNE1	152731877|152731877	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.519000|7.519000	0.81809|0.81809	2.814000|2.814000	0.96858|0.96858	0.563000|0.563000	0.77884|0.77884	GAC|CAA		0.498	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2		NM_182961		9	34	0	0	0	0.058154	0	9	34		
INTS1	26173	broad.mit.edu	37	7	1523488	1523488	+	Splice_Site	SNP	G	G	A	rs375215357		TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr7:1523488G>A	ENST00000404767.3	-	26	3516	c.3431C>T	c.(3430-3432)tCg>tTg	p.S1144L	INTS1_ENST00000389470.4_Splice_Site_p.S1306L	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1144					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CTGAGACTCCGACTGTGGGAA	0.647																																						uc003skn.2		NaN																	0					0						c.(3430-3432)TCG>TTG		integrator complex subunit 1			LEU/SER	1,4329		0,1,2164	37.0	47.0	44.0		3431	5.0	0.9	7		44	0,8534		0,0,4267	no	missense-near-splice	INTS1	NM_001080453.2	145	0,1,6431	AA,AG,GG		0.0,0.0231,0.0078	probably-damaging	1144/2191	1523488	1,12863	2165	4267	6432	SO:0001630	splice_region_variant	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1523488G>A	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.3430-1C>T	7.37:g.1523488G>A						INTS1_uc003skp.1_Missense_Mutation_p.S491L	p.S1144L	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	26	3532	-		Ovarian(82;0.0253)	1144					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	c.3431C>T	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954891	0.53293	2.31E-4	0.0	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.51817	0.69;0.72	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.64692	0.2621	M	0.68593	2.085	0.80722	D	1	D;D	0.62365	0.981;0.991	P;P	0.58820	0.722;0.846	T	0.69573	-0.5109	10	0.87932	D	0	.	18.2388	0.89960	0.0:0.0:1.0:0.0	.	1312;1144	A4D213;Q8N201	.;INT1_HUMAN	L	1144;1306	ENSP00000385722:S1144L;ENSP00000374121:S1306L	ENSP00000374121:S1306L	S	-	2	0	INTS1	1490014	1.000000	0.71417	0.942000	0.38095	0.513000	0.34164	9.630000	0.98420	2.319000	0.78375	0.511000	0.50034	TCG		0.647	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			Missense_Mutation	17	78	0	0	0	0.189662	0	17	78		
SDK1	221935	broad.mit.edu	37	7	3998602	3998602	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr7:3998602C>T	ENST00000404826.2	+	8	1329	c.1190C>T	c.(1189-1191)tCa>tTa	p.S397L	SDK1_ENST00000389531.3_Missense_Mutation_p.S397L	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	397	Ig-like C2-type 4.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGTCGGATTTCAGCTGAAGTA	0.468																																						uc003smx.2		NaN																	0				large_intestine(3)|ovary(2)|skin(1)	6						c.(1189-1191)TCA>TTA		sidekick 1 precursor							132.0	132.0	132.0					7																	3998602		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:3998602C>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.1190C>T	7.37:g.3998602C>T	ENSP00000385899:p.Ser397Leu						p.S397L	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	8	1329	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	397			Ig-like C2-type 4.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.1190C>T	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.713912	0.00706	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.67523	-0.27;-0.27	5.35	4.21	0.49690	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.285799	0.24024	N	0.042255	T	0.41259	0.1151	N	0.13168	0.305	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28267	-1.0049	10	0.02654	T	1	.	8.1417	0.31086	0.0:0.1586:0.0:0.8414	.	397	Q7Z5N4	SDK1_HUMAN	L	397	ENSP00000385899:S397L;ENSP00000374182:S397L	ENSP00000374182:S397L	S	+	2	0	SDK1	3965128	0.020000	0.18652	0.036000	0.18154	0.356000	0.29392	0.783000	0.26802	0.981000	0.38548	-0.302000	0.09304	TCA		0.468	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1		NM_152744		17	71	0	0	0	0.069288	0	17	71		
C7orf26	79034	broad.mit.edu	37	7	6629998	6629998	+	Silent	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr7:6629998C>T	ENST00000344417.5	+	1	351	c.84C>T	c.(82-84)ttC>ttT	p.F28F	AC079742.4_ENST00000434951.1_RNA|C7orf26_ENST00000359073.5_Silent_p.F28F	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN	chromosome 7 open reading frame 26	28										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		ACATCTACTTCAGCAGCCAGC	0.692																																						uc003sqo.1		NaN																	0				ovary(1)	1						c.(82-84)TTC>TTT		hypothetical protein LOC79034							20.0	21.0	21.0					7																	6629998		2202	4297	6499	SO:0001819	synonymous_variant	79034							g.chr7:6629998C>T	BC005121	CCDS5353.1	7p22.1	2011-11-24			ENSG00000146576	ENSG00000146576			21702	protein-coding gene	gene with protein product							Standard	NM_024067		Approved	MGC2718	uc003sqo.1	Q96N11	OTTHUMG00000125517	ENST00000344417.5:c.84C>T	7.37:g.6629998C>T						uc011jwy.1_5'Flank|C7orf26_uc003sqp.1_Silent_p.F28F|C7orf26_uc003sqq.1_5'UTR	p.F28F	NM_024067	NP_076972	Q96N11	CG026_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)	1	84	+		Ovarian(82;0.232)	28					Q9BQ43	Silent	SNP	ENST00000344417.5	37	c.84C>T	CCDS5353.1																																																																																				0.692	C7orf26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246844.2		NM_024067		15	25	0	0	0	0.175082	0	15	25		
C1GALT1	56913	broad.mit.edu	37	7	7278084	7278084	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr7:7278084G>C	ENST00000223122.3	+	2	481	c.419G>C	c.(418-420)aGa>aCa	p.R140T	C1GALT1_ENST00000402468.3_Missense_Mutation_p.R140T|C1GALT1_ENST00000436587.2_Missense_Mutation_p.R140T			Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1	140					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|kidney development (GO:0001822)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity (GO:0016263)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		AAAGAAGGCAGAGATCAACTA	0.373																																						uc010ktn.2		NaN																	0					0						c.(418-420)AGA>ACA		core 1 synthase,							68.0	69.0	69.0					7																	7278084		2203	4300	6503	SO:0001583	missense	56913				angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding	g.chr7:7278084G>C	AF155582	CCDS5355.1	7p21.3	2014-06-24	2014-06-24		ENSG00000106392	ENSG00000106392	2.4.1.122	"""Beta 3-glycosyltransferases"""	24337	protein-coding gene	gene with protein product	"""core 1 beta3-Gal-T"""	610555				10580128, 11677243	Standard	NM_020156		Approved	C1GALT, T-synthase	uc003srb.3	Q9NS00	OTTHUMG00000151912	ENST00000223122.3:c.419G>C	7.37:g.7278084G>C	ENSP00000223122:p.Arg140Thr					C1GALT1_uc003sra.2_Missense_Mutation_p.R140T|C1GALT1_uc010kto.1_Missense_Mutation_p.R140T	p.R140T	NM_020156	NP_064541	Q9NS00	C1GLT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.177)	3	642	+			140			Lumenal (Potential).		Q96QH4|Q9BTU1	Missense_Mutation	SNP	ENST00000223122.3	37	c.419G>C	CCDS5355.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.801294	0.90538	.	.	ENSG00000106392	ENST00000436587;ENST00000223122;ENST00000402468	T;T;T	0.62639	0.01;0.01;0.01	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.82277	0.5002	M	0.84773	2.715	0.58432	D	0.999997	D;P	0.89917	1.0;0.948	D;P	0.78314	0.991;0.877	T	0.82790	-0.0283	9	.	.	.	-24.731	20.0915	0.97822	0.0:0.0:1.0:0.0	.	140;140	Q9NS00-2;Q9NS00	.;C1GLT_HUMAN	T	140	ENSP00000389176:R140T;ENSP00000223122:R140T;ENSP00000384550:R140T	.	R	+	2	0	C1GALT1	7244609	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.011000	0.88624	2.834000	0.97654	0.650000	0.86243	AGA		0.373	C1GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324379.2		NM_020156		8	26	0	0	0	0.080935	0	8	26		
DFNA5	1687	broad.mit.edu	37	7	24749946	24749946	+	Silent	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr7:24749946G>C	ENST00000342947.3	-	6	1184	c.759C>G	c.(757-759)gtC>gtG	p.V253V	DFNA5_ENST00000409775.3_Silent_p.V253V|DFNA5_ENST00000545231.1_Silent_p.V89V|DFNA5_ENST00000419307.1_Silent_p.V89V|DFNA5_ENST00000559637.1_5'UTR|DFNA5_ENST00000409970.1_Silent_p.V89V	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	253					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						GGTCCAGGTAGACAGAGTCAA	0.473																																					GBM(78;184 1250 20134 20900 23600)	uc010kus.1		NaN																	0				ovary(1)	1						c.(757-759)GTC>GTG		deafness, autosomal dominant 5 protein isoform							118.0	114.0	115.0					7																	24749946		2203	4300	6503	SO:0001819	synonymous_variant	1687				sensory perception of sound			g.chr7:24749946G>C	AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.759C>G	7.37:g.24749946G>C						DFNA5_uc003swz.2_Silent_p.V89V|DFNA5_uc003sxa.1_Silent_p.V253V|DFNA5_uc010kut.1_Silent_p.V89V	p.V253V	NM_001127453	NP_001120925	O60443	DFNA5_HUMAN			6	847	-			253					A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Silent	SNP	ENST00000342947.3	37	c.759C>G	CCDS5389.1	.	.	.	.	.	.	.	.	.	.	G	9.365	1.069013	0.20147	.	.	ENSG00000105928	ENST00000415480;ENST00000446822	.	.	.	5.47	0.846	0.18955	.	.	.	.	.	T	0.36717	0.0977	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36407	-0.9749	5	0.87932	D	0	-6.1984	4.2319	0.10608	0.0905:0.2865:0.4766:0.1464	.	.	.	.	C	42;78	.	ENSP00000414090:S204C	S	-	2	0	DFNA5	24716471	0.005000	0.15991	0.001000	0.08648	0.261000	0.26267	1.155000	0.31700	0.584000	0.29591	0.563000	0.77884	TCT		0.473	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214060.2		NM_004403		14	61	0	0	0	0.146539	0	14	61		
URGCP	55665	broad.mit.edu	37	7	43916935	43916935	+	Silent	SNP	G	G	C	rs555213448		TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr7:43916935G>C	ENST00000453200.1	-	6	2620	c.2127C>G	c.(2125-2127)ctC>ctG	p.L709L	URGCP_ENST00000402306.3_Silent_p.L700L|URGCP_ENST00000443736.1_Silent_p.L666L|URGCP_ENST00000223341.7_Silent_p.L666L|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000447717.3_Silent_p.L666L|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000336086.6_Silent_p.L666L			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	709	VLIG-type G.				cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACATGGTGTTGAGGAGTGTGG	0.627																																						uc003tiw.2		NaN																	0				ovary(2)|liver(1)|skin(1)	4						c.(2125-2127)CTC>CTG		up-regulated gene 4 isoform 3							44.0	45.0	45.0					7																	43916935		2105	4235	6340	SO:0001819	synonymous_variant	55665				cell cycle	centrosome|nucleus	GTP binding	g.chr7:43916935G>C		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.2127C>G	7.37:g.43916935G>C						URGCP_uc003tiu.2_Silent_p.L666L|URGCP_uc003tiv.2_Silent_p.L634L|URGCP_uc003tix.2_Silent_p.L700L|URGCP_uc003tiy.2_Silent_p.L666L|URGCP_uc003tiz.2_Silent_p.L666L|URGCP_uc011kbj.1_Silent_p.L666L	p.L709L	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN			6	2184	-			709					E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Silent	SNP	ENST00000453200.1	37	c.2127C>G	CCDS47578.1																																																																																				0.627	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1		NM_001077664		31	123	0	0	0	0.203993	0	31	123		
C7orf57	136288	broad.mit.edu	37	7	48080989	48080989	+	Silent	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr7:48080989G>A	ENST00000348904.3	+	3	326	c.114G>A	c.(112-114)gcG>gcA	p.A38A	C7orf57_ENST00000430738.1_Silent_p.A83A|C7orf57_ENST00000539619.1_Silent_p.A38A|C7orf57_ENST00000435376.1_5'UTR|C7orf57_ENST00000420324.1_Silent_p.A83A	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	38										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						CCCCACCAGCGTCCCAGATCC	0.537																																						uc003toh.3		NaN																	0				ovary(1)	1						c.(112-114)GCG>GCA		hypothetical protein LOC136288							53.0	57.0	56.0					7																	48080989		1925	4145	6070	SO:0001819	synonymous_variant	136288							g.chr7:48080989G>A	BC031107	CCDS47583.1, CCDS59054.1, CCDS75594.1	7p12.3	2011-11-25			ENSG00000164746	ENSG00000164746			22247	protein-coding gene	gene with protein product							Standard	NM_001100159		Approved		uc003toh.5	Q8NEG2	OTTHUMG00000155808	ENST00000348904.3:c.114G>A	7.37:g.48080989G>A						C7orf57_uc003toi.3_5'UTR	p.A38A	NM_001100159	NP_001093629	Q8NEG2	CG057_HUMAN			3	326	+			38					C9JBJ8	Silent	SNP	ENST00000348904.3	37	c.114G>A	CCDS47583.1																																																																																				0.537	C7orf57-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341745.1		NM_001100159		36	49	0	0	0	0.139131	0	36	49		
TMEM248	55069	broad.mit.edu	37	7	66418353	66418353	+	Silent	SNP	G	G	A	rs149604295		TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr7:66418353G>A	ENST00000341567.4	+	6	1176	c.921G>A	c.(919-921)gaG>gaA	p.E307E		NM_017994.4	NP_060464.1	Q9NWD8	TM248_HUMAN	transmembrane protein 248	307						integral component of membrane (GO:0016021)											TTTGTCCCGAGAAGGTGAGCG	0.453																																						uc003tvk.2		NaN																	0				ovary(1)	1						c.(919-921)GAG>GAA		hypothetical protein LOC55069		G		0,4406		0,0,2203	155.0	151.0	152.0		921	1.9	1.0	7	dbSNP_134	152	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C7orf42	NM_017994.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		307/315	66418353	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55069					integral to membrane		g.chr7:66418353G>A		CCDS5536.1	7q11.21	2012-05-30	2012-05-30	2012-05-30	ENSG00000106609	ENSG00000106609			25476	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 42"""	C7orf42		12477932	Standard	XM_005250482		Approved	FLJ10099, FLJ13090	uc003tvk.3	Q9NWD8	OTTHUMG00000129553	ENST00000341567.4:c.921G>A	7.37:g.66418353G>A						C7orf42_uc010lah.2_RNA|C7orf42_uc003tvl.2_Silent_p.E307E	p.E307E	NM_017994	NP_060464	Q9NWD8	CG042_HUMAN			6	1185	+			307					Q53H07|Q96FR2	Silent	SNP	ENST00000341567.4	37	c.921G>A	CCDS5536.1																																																																																				0.453	TMEM248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251745.2		NM_017994		35	180	0	0	0	0.124865	0	35	180		
HIP1	3092	broad.mit.edu	37	7	75190679	75190679	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr7:75190679C>G	ENST00000336926.6	-	13	1171	c.1145G>C	c.(1144-1146)aGa>aCa	p.R382T	HIP1_ENST00000434438.2_Missense_Mutation_p.R382T	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	382					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						ACTGATCTCTCTGTATAGTCG	0.443			T	PDGFRB	CMML																																	uc003uds.1		NaN		Dom	yes		7	7q11.23	3092	T	huntingtin interacting protein 1			L	PDGFRB		CMML		0				lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						c.(1144-1146)AGA>ACA		huntingtin interacting protein 1							281.0	247.0	259.0					7																	75190679		2203	4300	6503	SO:0001583	missense	3092				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	g.chr7:75190679C>G	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.1145G>C	7.37:g.75190679C>G	ENSP00000336747:p.Arg382Thr					HIP1_uc011kfz.1_Missense_Mutation_p.R259T	p.R382T	NM_005338	NP_005329	O00291	HIP1_HUMAN			13	1186	-			382			Potential.		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	37	c.1145G>C	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.427656	0.43122	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.16897	2.54;2.31	5.64	4.76	0.60689	.	0.270493	0.43416	D	0.000561	T	0.23649	0.0572	M	0.77103	2.36	0.23645	N	0.997218	P;B	0.37525	0.598;0.443	B;B	0.35770	0.16;0.21	T	0.15607	-1.0431	10	0.52906	T	0.07	-3.4502	13.5911	0.61961	0.0:0.9258:0.0:0.0742	.	382;382	E7ES17;O00291	.;HIP1_HUMAN	T	382	ENSP00000336747:R382T;ENSP00000410300:R382T	ENSP00000336747:R382T	R	-	2	0	HIP1	75028615	0.119000	0.22226	0.117000	0.21633	0.682000	0.39822	2.995000	0.49441	1.396000	0.46663	0.655000	0.94253	AGA		0.443	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2		NM_005338		46	85	0	0	0	0.139131	0	46	85		
DTX2	113878	broad.mit.edu	37	7	76112191	76112191	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr7:76112191G>T	ENST00000324432.5	+	5	1145	c.635G>T	c.(634-636)gGc>gTc	p.G212V	DTX2_ENST00000430490.2_Missense_Mutation_p.G212V|DTX2_ENST00000307569.8_Missense_Mutation_p.G212V|DTX2_ENST00000446600.1_Missense_Mutation_p.G121V|DTX2_ENST00000446820.2_Missense_Mutation_p.G212V|DTX2_ENST00000413936.2_Missense_Mutation_p.G212V	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	212					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						CCCGTGTCAGGCCGCTACCGC	0.662																																						uc003uff.3		NaN																	0				ovary(1)|skin(1)	2						c.(634-636)GGC>GTC		deltex 2 isoform a							67.0	73.0	71.0					7																	76112191		2203	4300	6503	SO:0001583	missense	113878				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr7:76112191G>T		CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"""RING-type (C3HC4) zinc fingers"""	15973	protein-coding gene	gene with protein product		613141	"""deltex (Drosophila) homolog 2"", ""deltex homolog 2 (Drosophila)"""			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.635G>T	7.37:g.76112191G>T	ENSP00000322885:p.Gly212Val					DTX2_uc011kgk.1_Missense_Mutation_p.G121V|DTX2_uc003ufg.3_Missense_Mutation_p.G212V|DTX2_uc003ufh.3_Missense_Mutation_p.G212V|DTX2_uc003ufj.3_Missense_Mutation_p.G212V	p.G212V	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN			5	1191	+			212					Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Missense_Mutation	SNP	ENST00000324432.5	37	c.635G>T	CCDS5587.1	.	.	.	.	.	.	.	.	.	.	.	12.47	1.946415	0.34377	.	.	ENSG00000091073	ENST00000324432;ENST00000307569;ENST00000541989;ENST00000446600;ENST00000413936;ENST00000430490;ENST00000446820	T;T;T;T;T;T	0.11495	2.8;2.77;2.8;2.8;2.8;2.77	5.18	3.03	0.35002	.	0.551018	0.20004	N	0.101276	T	0.07548	0.0190	L	0.27053	0.805	0.58432	D	0.999995	B;P;B	0.43094	0.012;0.799;0.017	B;B;B	0.42386	0.015;0.386;0.007	T	0.40365	-0.9567	10	0.17832	T	0.49	-12.8776	7.0587	0.25113	0.1173:0.3582:0.5245:0.0	.	121;212;212	F5GX89;Q86UW9-2;Q86UW9	.;.;DTX2_HUMAN	V	212;212;121;121;212;212;212	ENSP00000322885:G212V;ENSP00000305242:G212V;ENSP00000397648:G121V;ENSP00000390218:G212V;ENSP00000411986:G212V;ENSP00000392545:G212V	ENSP00000305242:G212V	G	+	2	0	AC005522.1	75950127	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.405000	0.52630	1.154000	0.42482	0.561000	0.74099	GGC		0.662	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2				45	444	1	0	1.00246e-47	0.139131	1.07454e-47	45	444		
FZD1	8321	broad.mit.edu	37	7	90895017	90895017	+	Silent	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr7:90895017C>T	ENST00000287934.2	+	1	1235	c.822C>T	c.(820-822)ttC>ttT	p.F274F		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	274					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			GAGGCAAGTTCTCCTGCCCGC	0.692																																						uc003ula.2		NaN																	0					0						c.(820-822)TTC>TTT		frizzled 1 precursor							15.0	13.0	14.0					7																	90895017		2193	4280	6473	SO:0001819	synonymous_variant	8321				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	g.chr7:90895017C>T	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.822C>T	7.37:g.90895017C>T							p.F274F	NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)		1	1235	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		274			Extracellular (Potential).		A4D1E8|O94815|Q549T8	Silent	SNP	ENST00000287934.2	37	c.822C>T	CCDS5620.1																																																																																				0.692	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2		NM_003505		11	8	0	0	0	0.080935	0	11	8		
COPS6	10980	broad.mit.edu	37	7	99686983	99686983	+	Silent	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr7:99686983C>G	ENST00000303904.3	+	2	184	c.147C>G	c.(145-147)ctC>ctG	p.L49L	COPS6_ENST00000418625.1_Silent_p.L48L	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	49	MPN.				cullin deneddylation (GO:0010388)|viral process (GO:0016032)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TTGTCATTCTCAACATCTCAG	0.592																																						uc003usu.2		NaN																	0					0						c.(145-147)CTC>CTG		COP9 signalosome subunit 6							148.0	138.0	141.0					7																	99686983		2203	4300	6503	SO:0001819	synonymous_variant	10980				cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding	g.chr7:99686983C>G	BC002520	CCDS5682.1	7q22.1	2013-03-14	2013-03-14		ENSG00000168090	ENSG00000168090			21749	protein-coding gene	gene with protein product	"""COP9 subunit 6 (MOV34 homolog, 34 kD)"""	614729	"""COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis)"""			12477932	Standard	NM_006833		Approved	MOV34-34KD, CSN6	uc003usu.3	Q7L5N1	OTTHUMG00000154632	ENST00000303904.3:c.147C>G	7.37:g.99686983C>G						COPS6_uc011kjf.1_Silent_p.L49L	p.L49L	NM_006833	NP_006824	Q7L5N1	CSN6_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		2	178	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		49			MPN.		A4D2A3|O15387	Silent	SNP	ENST00000303904.3	37	c.147C>G	CCDS5682.1																																																																																				0.592	COPS6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336412.3		NM_006833		134	175	0	0	0	0.139131	0	134	175		
SRRT	51593	broad.mit.edu	37	7	100483362	100483362	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr7:100483362C>G	ENST00000347433.4	+	11	1516	c.1358C>G	c.(1357-1359)tCa>tGa	p.S453*	SRRT_ENST00000388793.4_Nonsense_Mutation_p.S452*|SRRT_ENST00000432932.1_Nonsense_Mutation_p.S452*|SRRT_ENST00000457580.2_Nonsense_Mutation_p.S453*			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	453					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GTGGCGCTCTCAGAGCCCCAG	0.537																																						uc003uwy.2		NaN																	0				ovary(2)	2						c.(1357-1359)TCA>TGA		arsenate resistance protein 2 isoform a							86.0	77.0	80.0					7																	100483362		2203	4300	6503	SO:0001587	stop_gained	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100483362C>G		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.1358C>G	7.37:g.100483362C>G	ENSP00000314491:p.Ser453*					SRRT_uc010lhl.1_Nonsense_Mutation_p.S452*|SRRT_uc003uxa.2_Nonsense_Mutation_p.S452*|SRRT_uc003uwz.2_Nonsense_Mutation_p.S453*	p.S453*	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN			12	1626	+			453					A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Nonsense_Mutation	SNP	ENST00000347433.4	37	c.1358C>G	CCDS34709.1	.	.	.	.	.	.	.	.	.	.	c	25.1	4.604565	0.87157	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000432932;ENST00000347433;ENST00000448764	.	.	.	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	15.8585	0.79005	0.0:1.0:0.0:0.0	.	.	.	.	X	453;452;452;453;83	.	ENSP00000314491:S453X	S	+	2	0	SRRT	100321298	1.000000	0.71417	0.230000	0.23976	0.882000	0.50991	5.014000	0.64029	2.596000	0.87737	0.645000	0.84053	TCA		0.537	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1		NM_015908		5	21	0	0	0	0.02938	0	5	21		
LRRC4	64101	broad.mit.edu	37	7	127670203	127670203	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr7:127670203G>C	ENST00000249363.3	-	2	748	c.491C>G	c.(490-492)tCt>tGt	p.S164C	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	164					postsynaptic density protein 95 clustering (GO:0097119)|regulation of synapse organization (GO:0050807)|synapse organization (GO:0050808)	cell junction (GO:0030054)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GAAGGCGTAAGAGGGGATGCT	0.572																																						uc003vmk.2		NaN																	0				large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						c.(490-492)TCT>TGT		leucine rich repeat containing 4 precursor							67.0	72.0	71.0					7																	127670203		2203	4300	6503	SO:0001583	missense	64101					cell junction|integral to membrane|postsynaptic membrane		g.chr7:127670203G>C	AF196976	CCDS5799.1	7q31	2013-01-14	2003-11-19		ENSG00000128594	ENSG00000128594		"""Immunoglobulin superfamily / I-set domain containing"""	15586	protein-coding gene	gene with protein product		610486	"""leucine-rich repeat-containing 4"""			12969517	Standard	NM_022143		Approved	NAG14	uc003vmk.3	Q9HBW1	OTTHUMG00000157563	ENST00000249363.3:c.491C>G	7.37:g.127670203G>C	ENSP00000249363:p.Ser164Cys					SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron	p.S164C	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN		Lung(243;0.124)	2	628	-			164			LRR 4.|Extracellular (Potential).		A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Missense_Mutation	SNP	ENST00000249363.3	37	c.491C>G	CCDS5799.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693223	0.48202	.	.	ENSG00000128594	ENST00000249363	D	0.91996	-2.95	4.56	4.56	0.56223	.	0.000000	0.64402	D	0.000001	D	0.90307	0.6968	M	0.62266	1.93	0.80722	D	1	P	0.37914	0.611	B	0.36030	0.216	D	0.91604	0.5297	10	0.72032	D	0.01	.	14.8699	0.70448	0.0:0.0:1.0:0.0	.	164	Q9HBW1	LRRC4_HUMAN	C	164	ENSP00000249363:S164C	ENSP00000249363:S164C	S	-	2	0	LRRC4	127457439	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	6.481000	0.73608	2.316000	0.78162	0.655000	0.94253	TCT		0.572	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349170.1		NM_022143		30	135	0	0	0	0.214465	0	30	135		
CLCN1	1180	broad.mit.edu	37	7	143039166	143039166	+	Missense_Mutation	SNP	C	C	G	rs143825889		TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr7:143039166C>G	ENST00000343257.2	+	15	1814	c.1727C>G	c.(1726-1728)tCt>tGt	p.S576C		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	576					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CTGCAGCCCTCTCTCTATGAC	0.527																																						uc003wcr.1		NaN																	0				ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(1726-1728)TCT>TGT		chloride channel 1, skeletal muscle		C	CYS/SER	1,4405	2.1+/-5.4	0,1,2202	106.0	91.0	96.0		1727	6.0	1.0	7	dbSNP_134	96	0,8600		0,0,4300	no	missense	CLCN1	NM_000083.2	112	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	probably-damaging	576/989	143039166	1,13005	2203	4300	6503	SO:0001583	missense	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143039166C>G	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.1727C>G	7.37:g.143039166C>G	ENSP00000339867:p.Ser576Cys					CLCN1_uc011ktc.1_Missense_Mutation_p.S188C	p.S576C	NM_000083	NP_000074	P35523	CLCN1_HUMAN			15	1814	+	Melanoma(164;0.205)		576			Cytoplasmic (By similarity).		A4D2H5|Q2M202	Missense_Mutation	SNP	ENST00000343257.2	37	c.1727C>G	CCDS5881.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.092826	0.76756	2.27E-4	0.0	ENSG00000188037	ENST00000343257	D	0.94650	-3.48	6.04	6.04	0.98038	Chloride channel, core (2);	0.224753	0.47093	D	0.000255	D	0.97448	0.9165	M	0.87456	2.885	0.49915	D	0.999839	D	0.89917	1.0	D	0.91635	0.999	D	0.97667	1.0164	10	0.87932	D	0	.	14.8873	0.70579	0.0:0.7498:0.2502:0.0	.	576	P35523	CLCN1_HUMAN	C	576	ENSP00000339867:S576C	ENSP00000339867:S576C	S	+	2	0	CLCN1	142749288	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.001000	0.63946	2.873000	0.98535	0.643000	0.83706	TCT		0.527	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1		NM_000083		36	47	0	0	0	0.09836	0	36	47		
OR2F1	26211	broad.mit.edu	37	7	143657918	143657918	+	Silent	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr7:143657918G>A	ENST00000392899.1	+	1	892	c.855G>A	c.(853-855)ctG>ctA	p.L285L	RP4-669B10.3_ENST00000466281.1_lincRNA	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	285					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					CACCAATGCTGAACCCCATGA	0.453																																						uc003wds.1		NaN																	0				skin(2)|ovary(1)	3						c.(853-855)CTG>CTA		olfactory receptor, family 2, subfamily F,							95.0	88.0	90.0					7																	143657918		2203	4300	6503	SO:0001819	synonymous_variant	26211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143657918G>A	U56421	CCDS5887.1	7q35	2013-06-03	2013-06-03		ENSG00000213215	ENSG00000213215		"""GPCR / Class A : Olfactory receptors"""	8246	protein-coding gene	gene with protein product		608497	"""olfactory receptor, family 2, subfamily F, member 1"""	OR2F4, OR2F5, OR2F3, OR2F3P		9500546	Standard	NM_012369		Approved	OLF3, OR7-140, OR7-139, OR14-60	uc003wds.1	Q13607	OTTHUMG00000157771	ENST00000392899.1:c.855G>A	7.37:g.143657918G>A							p.L285L	NM_012369	NP_036501	Q13607	OR2F1_HUMAN			1	899	+	Melanoma(164;0.0903)		285			Helical; Name=7; (Potential).		A4D2G1|Q6IFP7|Q96R49|Q9UDX1	Silent	SNP	ENST00000392899.1	37	c.855G>A	CCDS5887.1																																																																																				0.453	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349581.1				26	46	0	0	0	0.153744	0	26	46		
ZNF425	155054	broad.mit.edu	37	7	148800826	148800826	+	Silent	SNP	G	G	A	rs142180575		TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr7:148800826G>A	ENST00000378061.2	-	4	2269	c.2137C>T	c.(2137-2139)Ctg>Ttg	p.L713L		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	713					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGAAGGCACAGATGGGCCTTC	0.552																																						uc003wfj.2		NaN																	0				breast(2)|ovary(1)	3						c.(2137-2139)CTG>TTG		zinc finger protein 425		G		0,4406		0,0,2203	78.0	72.0	74.0		2137	1.0	0.0	7	dbSNP_134	74	1,8599		0,1,4299	no	coding-synonymous	ZNF425	NM_001001661.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		713/753	148800826	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	155054				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148800826G>A	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.2137C>T	7.37:g.148800826G>A							p.L713L	NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	2210	-	Melanoma(164;0.15)		713			C2H2-type 18.		B3KPM1|Q08AG3	Silent	SNP	ENST00000378061.2	37	c.2137C>T	CCDS34773.1																																																																																				0.552	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1		XM_088140		19	27	0	0	0	0.062417	0	19	27		
ZNF425	155054	broad.mit.edu	37	7	148801778	148801778	+	Silent	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr7:148801778G>A	ENST00000378061.2	-	4	1317	c.1185C>T	c.(1183-1185)ttC>ttT	p.F395F		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	395					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TCTTGTAGATGAATTTCCTGC	0.532																																						uc003wfj.2		NaN																	0				breast(2)|ovary(1)	3						c.(1183-1185)TTC>TTT		zinc finger protein 425							94.0	103.0	100.0					7																	148801778		2203	4300	6503	SO:0001819	synonymous_variant	155054				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148801778G>A	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.1185C>T	7.37:g.148801778G>A							p.F395F	NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	1258	-	Melanoma(164;0.15)		395			C2H2-type 7.		B3KPM1|Q08AG3	Silent	SNP	ENST00000378061.2	37	c.1185C>T	CCDS34773.1																																																																																				0.532	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1		XM_088140		55	92	0	0	0	0.139131	0	55	92		
CTSB	1508	broad.mit.edu	37	8	11708405	11708405	+	Missense_Mutation	SNP	G	G	C	rs144771892		TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr8:11708405G>C	ENST00000353047.6	-	4	550	c.297C>G	c.(295-297)atC>atG	p.I99M	CTSB_ENST00000531089.1_Missense_Mutation_p.I99M|CTSB_ENST00000525076.1_5'UTR|CTSB_ENST00000453527.2_Missense_Mutation_p.I99M|CTSB_ENST00000345125.3_Missense_Mutation_p.I99M|CTSB_ENST00000533455.1_Missense_Mutation_p.I99M|CTSB_ENST00000415599.2_Missense_Mutation_p.I99M|CTSB_ENST00000530640.2_Missense_Mutation_p.I99M|CTSB_ENST00000534510.1_Missense_Mutation_p.I99M|CTSB_ENST00000434271.1_Missense_Mutation_p.I99M	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	99					cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|decidualization (GO:0046697)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of catalytic activity (GO:0050790)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|proteoglycan binding (GO:0043394)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		CCTGGTCTCTGATCTCTTTGA	0.572																																						uc003wum.2		NaN																	0					0						c.(295-297)ATC>ATG		cathepsin B preproprotein		G	MET/ILE,MET/ILE,MET/ILE,MET/ILE,MET/ILE	0,4406		0,0,2203	77.0	69.0	72.0		297,297,297,297,297	1.2	1.0	8	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	CTSB	NM_001908.3,NM_147780.2,NM_147781.2,NM_147782.2,NM_147783.2	10,10,10,10,10	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	99/340,99/340,99/340,99/340,99/340	11708405	1,13005	2203	4300	6503	SO:0001583	missense	1508				proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity	g.chr8:11708405G>C	M14221	CCDS5986.1	8p23.1	2012-10-02			ENSG00000164733	ENSG00000164733	3.4.22.1	"""Cathepsins"""	2527	protein-coding gene	gene with protein product		116810				8112600, 3463996	Standard	XM_006716244		Approved		uc003wuq.3	P07858	OTTHUMG00000090799	ENST00000353047.6:c.297C>G	8.37:g.11708405G>C	ENSP00000345672:p.Ile99Met					CTSB_uc003wul.2_5'Flank|CTSB_uc011kxl.1_Intron|CTSB_uc003wun.2_Missense_Mutation_p.I99M|CTSB_uc003wuo.2_Missense_Mutation_p.I99M|CTSB_uc003wup.2_Missense_Mutation_p.I99M|CTSB_uc003wuq.2_Missense_Mutation_p.I99M|CTSB_uc010lsc.2_Nonsense_Mutation_p.S15*|CTSB_uc003wur.2_Missense_Mutation_p.I99M|CTSB_uc003wus.1_Missense_Mutation_p.I99M|CTSB_uc003wut.1_Missense_Mutation_p.I99M|CTSB_uc003wuu.2_5'Flank	p.I99M	NM_147780	NP_680090	P07858	CATB_HUMAN	STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)	6	621	-	all_epithelial(15;0.205)		99					B3KQR5|B3KRR5|Q503A6|Q96D87	Missense_Mutation	SNP	ENST00000353047.6	37	c.297C>G	CCDS5986.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.491099	0.64074	0.0	1.16E-4	ENSG00000164733	ENST00000434271;ENST00000353047;ENST00000530640;ENST00000531089;ENST00000453527;ENST00000415599;ENST00000345125;ENST00000533455;ENST00000534510;ENST00000534636;ENST00000533572;ENST00000530296;ENST00000526195;ENST00000527243;ENST00000534149;ENST00000526645;ENST00000530573;ENST00000505496	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89681	-2.55;-2.55;-2.55;-2.55;-2.55;-2.55;-2.55;-2.55;-2.55;-2.55;-2.55;-2.55;-2.55;-2.55;-2.55;-2.55;-1.99	5.3	1.2	0.21068	Peptidase C1A, papain C-terminal (2);	0.094730	0.64402	D	0.000001	D	0.95194	0.8442	H	0.97131	3.945	0.52501	D	0.999957	D	0.71674	0.998	D	0.79108	0.992	D	0.93403	0.6762	10	0.87932	D	0	.	7.2974	0.26401	0.2115:0.0:0.6679:0.1206	.	99	P07858	CATB_HUMAN	M	99	ENSP00000415889:I99M;ENSP00000345672:I99M;ENSP00000435105:I99M;ENSP00000433215:I99M;ENSP00000409917:I99M;ENSP00000411254:I99M;ENSP00000342070:I99M;ENSP00000432244:I99M;ENSP00000434217:I99M;ENSP00000436159:I99M;ENSP00000433995:I99M;ENSP00000435074:I99M;ENSP00000436627:I99M;ENSP00000434725:I99M;ENSP00000436122:I99M;ENSP00000431518:I99M;ENSP00000435650:I99M	ENSP00000342070:I99M	I	-	3	3	CTSB	11745814	0.765000	0.28485	0.988000	0.46212	0.791000	0.44710	0.821000	0.27338	0.600000	0.29862	0.462000	0.41574	ATC		0.572	CTSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207586.3		NM_147780		10	14	0	0	0	0.132662	0	10	14		
TNFRSF10A	8797	broad.mit.edu	37	8	23082521	23082521	+	Silent	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr8:23082521C>G	ENST00000221132.3	-	1	118	c.54G>C	c.(52-54)ccG>ccC	p.P18P	RP11-1149O23.3_ENST00000517774.1_RNA|RP11-1149O23.3_ENST00000500853.1_RNA|RP11-1149O23.4_ENST00000511929.2_RNA	NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	18					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|signal transduction (GO:0007165)|TRAIL-activated apoptotic signaling pathway (GO:0036462)	integral component of membrane (GO:0016021)	death receptor activity (GO:0005035)|protease binding (GO:0002020)|receptor activity (GO:0004872)|TRAIL binding (GO:0045569)|transcription factor binding (GO:0008134)			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		TCCCGGGATTCGGAGTCACTG	0.632																																						uc003xda.2		NaN																	0				central_nervous_system(3)|ovary(2)|skin(1)	6						c.(52-54)CCG>CCC		tumor necrosis factor receptor superfamily,							18.0	18.0	18.0					8																	23082521		2203	4298	6501	SO:0001819	synonymous_variant	8797				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding	g.chr8:23082521C>G	U90875	CCDS6039.1	8p21	2006-02-22			ENSG00000104689	ENSG00000104689		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11904	protein-coding gene	gene with protein product		603611				9311998, 9082980	Standard	NM_003844		Approved	DR4, Apo2, TRAILR-1, CD261	uc003xda.3	O00220	OTTHUMG00000097843	ENST00000221132.3:c.54G>C	8.37:g.23082521C>G						uc003xdb.1_5'Flank	p.P18P	NM_003844	NP_003835	O00220	TR10A_HUMAN		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)	1	119	-		Prostate(55;0.0421)|Breast(100;0.14)	18					A8K5I4|Q53Y72|Q96E62	Silent	SNP	ENST00000221132.3	37	c.54G>C	CCDS6039.1																																																																																				0.632	TNFRSF10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215133.2		NM_003844		14	16	0	0	0	0.062417	0	14	16		
ANK1	286	broad.mit.edu	37	8	41583422	41583422	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr8:41583422C>T	ENST00000347528.4	-	6	552	c.469G>A	c.(469-471)Gag>Aag	p.E157K	ANK1_ENST00000265709.8_Missense_Mutation_p.E190K|ANK1_ENST00000396942.1_Missense_Mutation_p.E157K|ANK1_ENST00000352337.4_Missense_Mutation_p.E157K|ANK1_ENST00000396945.1_Missense_Mutation_p.E157K|ANK1_ENST00000289734.7_Missense_Mutation_p.E157K|ANK1_ENST00000379758.2_Missense_Mutation_p.E157K	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	157	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ACGACGTTCTCATGGCCCTGC	0.662																																						uc003xok.2		NaN																	0				ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9						c.(469-471)GAG>AAG		ankyrin 1 isoform 1							82.0	55.0	64.0					8																	41583422		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41583422C>T	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.469G>A	8.37:g.41583422C>T	ENSP00000339620:p.Glu157Lys					NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Missense_Mutation_p.E157K|ANK1_uc003xoj.2_Missense_Mutation_p.E157K|ANK1_uc003xol.2_Missense_Mutation_p.E157K|ANK1_uc003xom.2_Missense_Mutation_p.E190K	p.E157K	NM_020476	NP_065209	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		6	553	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	157			ANK 4.|89 kDa domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.469G>A	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	C	36	5.725094	0.96847	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48;2.48;2.48	5.86	5.86	0.93980	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.21509	0.0518	N	0.12502	0.225	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;0.995;0.994;1.0	D;D;D;D;D	0.91635	0.999;0.998;0.933;0.941;0.999	T	0.20472	-1.0274	10	0.15066	T	0.55	.	20.1931	0.98233	0.0:1.0:0.0:0.0	.	190;157;157;157;157	P16157-21;P16157-4;P16157;P16157-5;P16157-3	.;.;ANK1_HUMAN;.;.	K	157;157;157;157;157;157;190;157	ENSP00000339620:E157K;ENSP00000289734:E157K;ENSP00000369082:E157K;ENSP00000380149:E157K;ENSP00000380147:E157K;ENSP00000309131:E157K;ENSP00000265709:E190K	ENSP00000265709:E190K	E	-	1	0	ANK1	41702579	1.000000	0.71417	0.997000	0.53966	0.750000	0.42670	6.081000	0.71309	2.771000	0.95319	0.563000	0.77884	GAG		0.662	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1		NM_020475		26	18	0	0	0	0.183431	0	26	18		
PI15	51050	broad.mit.edu	37	8	75737599	75737599	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr8:75737599G>A	ENST00000260113.2	+	2	294	c.115G>A	c.(115-117)Gat>Aat	p.D39N	RP11-758M4.4_ENST00000523860.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.D39N|RP11-758M4.4_ENST00000518128.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	39						extracellular vesicular exosome (GO:0070062)	peptidase inhibitor activity (GO:0030414)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			TAATTTCACTGATATTGAAGC	0.488																																						uc003yal.2		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(115-117)GAT>AAT		protease inhibitor 15 preproprotein							126.0	121.0	123.0					8																	75737599		2203	4300	6503	SO:0001583	missense	51050					extracellular region	peptidase inhibitor activity	g.chr8:75737599G>A	D45027	CCDS6218.1	8q13.3	2005-08-17	2005-08-17		ENSG00000137558	ENSG00000137558			8946	protein-coding gene	gene with protein product		607076	"""protease inhibitor 15"""			8882727, 9473672	Standard	XM_005251255		Approved	P25TI	uc003yal.3	O43692	OTTHUMG00000164528	ENST00000260113.2:c.115G>A	8.37:g.75737599G>A	ENSP00000260113:p.Asp39Asn					uc003yak.1_Intron|PI15_uc003yam.2_Missense_Mutation_p.D39N	p.D39N	NM_015886	NP_056970	O43692	PI15_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)		2	294	+	Breast(64;0.137)		39					Q68CY1	Missense_Mutation	SNP	ENST00000260113.2	37	c.115G>A	CCDS6218.1	.	.	.	.	.	.	.	.	.	.	G	8.589	0.884087	0.17467	.	.	ENSG00000137558	ENST00000260113;ENST00000523773	T;T	0.08008	3.14;3.14	4.91	4.91	0.64330	.	0.094648	0.45867	D	0.000331	T	0.06962	0.0177	L	0.38531	1.155	0.42227	D	0.991877	B	0.02656	0.0	B	0.01281	0.0	T	0.29579	-1.0007	10	0.21540	T	0.41	.	9.3688	0.38241	0.1572:0.0:0.8428:0.0	.	39	O43692	PI15_HUMAN	N	39	ENSP00000260113:D39N;ENSP00000428567:D39N	ENSP00000260113:D39N	D	+	1	0	PI15	75900154	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.618000	0.54188	2.721000	0.93114	0.655000	0.94253	GAT		0.488	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379115.1		NM_015886		50	50	0	0	0	0.139131	0	50	50		
STMN2	11075	broad.mit.edu	37	8	80549051	80549051	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr8:80549051A>G	ENST00000220876.7	+	2	416	c.34A>G	c.(34-36)Atg>Gtg	p.M12V	STMN2_ENST00000518491.1_Start_Codon_SNP_p.M1V|STMN2_ENST00000518111.1_Missense_Mutation_p.M12V	NM_001199214.1|NM_007029.3	NP_001186143.1|NP_008960.2	Q93045	STMN2_HUMAN	stathmin 2	12	Membrane attachment. {ECO:0000255}.				cellular response to nerve growth factor stimulus (GO:1990090)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|positive regulation of microtubule depolymerization (GO:0031117)|positive regulation of neuron projection development (GO:0010976)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			CAAGGAAAAAATGAAGGAGCT	0.358																																						uc003ybj.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(34-36)ATG>GTG		superiorcervical ganglia, neural specific 10							101.0	92.0	94.0					8																	80549051		1876	4131	6007	SO:0001583	missense	11075				intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development	axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction	protein binding	g.chr8:80549051A>G		CCDS43748.1, CCDS56542.1	8q21.13	2014-04-01	2014-04-01	2001-07-13	ENSG00000104435	ENSG00000104435			10577	protein-coding gene	gene with protein product		600621	"""stathmin-like 2"""	SCGN10		8622778, 12140291	Standard	NM_007029		Approved	SCG10	uc022awk.1	Q93045	OTTHUMG00000164610	ENST00000220876.7:c.34A>G	8.37:g.80549051A>G	ENSP00000220876:p.Met12Val					STMN2_uc010lzp.2_RNA|STMN2_uc011lfn.1_Missense_Mutation_p.M12V	p.M12V	NM_007029	NP_008960	Q93045	STMN2_HUMAN	Epithelial(68;0.0229)|all cancers(69;0.0874)		2	85	+	all_lung(9;8.34e-05)		12			Membrane attachment (Potential).		A8K9M2|G3V110|O14952|Q6PK68	Missense_Mutation	SNP	ENST00000220876.7	37	c.34A>G	CCDS43748.1	.	.	.	.	.	.	.	.	.	.	A	16.18	3.050611	0.55218	.	.	ENSG00000104435	ENST00000220876;ENST00000414622;ENST00000518111;ENST00000518491	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.49133	0.1539	L	0.52126	1.63	0.31399	N	0.676898	P;B	0.34724	0.465;0.158	B;B	0.33690	0.168;0.042	T	0.60084	-0.7332	9	0.48119	T	0.1	-9.1645	15.7107	0.77626	1.0:0.0:0.0:0.0	.	12;12	B7Z4K3;Q93045	.;STMN2_HUMAN	V	12;12;12;1	.	ENSP00000220876:M12V	M	+	1	0	STMN2	80711606	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.112000	0.64535	0.533000	0.62120	ATG		0.358	STMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379261.2		NM_007029		11	33	0	0	0	0.132662	0	11	33		
KCNV1	27012	broad.mit.edu	37	8	110984713	110984713	+	Silent	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr8:110984713C>T	ENST00000524391.1	-	3	1797	c.765G>A	c.(763-765)ggG>ggA	p.G255G	RP11-696P8.2_ENST00000530667.1_RNA|KCNV1_ENST00000297404.1_Silent_p.G255G			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	255					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GGACAAACTCCCCGGTGAACC	0.522																																						uc003ynr.3		NaN																	0				lung(1)|kidney(1)	2						c.(763-765)GGG>GGA		potassium channel, subfamily V, member 1							78.0	68.0	72.0					8																	110984713		2203	4300	6503	SO:0001819	synonymous_variant	27012					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr8:110984713C>T	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.765G>A	8.37:g.110984713C>T						KCNV1_uc010mcw.2_Silent_p.G255G	p.G255G	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		2	1107	-	all_neural(195;0.219)		255			Helical; Name=Segment S2; (Potential).		Q9UHJ4	Silent	SNP	ENST00000524391.1	37	c.765G>A	CCDS6314.1																																																																																				0.522	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1		NM_014379		15	67	0	0	0	0.160694	0	15	67		
SNTB1	6641	broad.mit.edu	37	8	121644785	121644785	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr8:121644785C>A	ENST00000395601.3	-	4	1309	c.895G>T	c.(895-897)Gac>Tac	p.D299Y	SNTB1_ENST00000517992.1_Missense_Mutation_p.D299Y|SNTB1_ENST00000519177.1_5'UTR	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	299					muscle contraction (GO:0006936)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202)				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			GTCAGCAGGTCATTAACGTTG	0.537																																						uc010mdg.2		NaN																	0				skin(5)	5						c.(895-897)GAC>TAC		basic beta 1 syntrophin							116.0	98.0	104.0					8																	121644785		2203	4300	6503	SO:0001583	missense	6641				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding	g.chr8:121644785C>A	AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164		"""Pleckstrin homology (PH) domain containing"""	11168	protein-coding gene	gene with protein product	"""tax interaction protein 43"""	600026	"""syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)"""	SNT2B1		8183929, 9482110	Standard	NM_021021		Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.895G>T	8.37:g.121644785C>A	ENSP00000378965:p.Asp299Tyr					SNTB1_uc003ype.2_Missense_Mutation_p.D299Y	p.D299Y	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		3	1121	-	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		299					A8K9E0|O14912|Q4KMG8	Missense_Mutation	SNP	ENST00000395601.3	37	c.895G>T	CCDS6334.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.398586	0.62177	.	.	ENSG00000172164	ENST00000395601;ENST00000517992	T;T	0.39592	1.07;1.07	6.03	5.15	0.70609	Pleckstrin homology domain (1);	0.414983	0.29730	N	0.011351	T	0.50752	0.1634	L	0.57536	1.79	0.52501	D	0.999955	B;P	0.52692	0.404;0.955	B;P	0.51135	0.222;0.66	T	0.50882	-0.8775	10	0.59425	D	0.04	.	14.7299	0.69374	0.0:0.9313:0.0:0.0686	.	299;299	Q13884;Q13884-2	SNTB1_HUMAN;.	Y	299	ENSP00000378965:D299Y;ENSP00000431124:D299Y	ENSP00000378965:D299Y	D	-	1	0	SNTB1	121713966	1.000000	0.71417	0.999000	0.59377	0.874000	0.50279	3.464000	0.53057	2.868000	0.98415	0.555000	0.69702	GAC		0.537	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381535.1		NM_021021		24	67	1	0	3.73988e-18	0.116897	3.96984e-18	24	67		
C8orf76	84933	broad.mit.edu	37	8	124238796	124238796	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr8:124238796C>T	ENST00000276704.4	-	5	943	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K	C8orf76_ENST00000521310.1_5'UTR|ZHX1-C8ORF76_ENST00000357082.4_Missense_Mutation_p.E266K	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	298										NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			ATTTTATCTTCAATTTCCTGC	0.418																																						uc003yqc.1		NaN																	0				ovary(2)	2						c.(892-894)GAA>AAA		hypothetical protein LOC84933							99.0	91.0	94.0					8																	124238796		2203	4300	6503	SO:0001583	missense	84933						binding	g.chr8:124238796C>T	AK027731	CCDS6341.1	8q24.13	2012-06-27			ENSG00000189376	ENSG00000189376			25924	protein-coding gene	gene with protein product							Standard	NM_032847		Approved	FLJ14825	uc003yqc.2	Q96K31	OTTHUMG00000172562	ENST00000276704.4:c.892G>A	8.37:g.124238796C>T	ENSP00000276704:p.Glu298Lys					C8orf76_uc003yqd.2_Missense_Mutation_p.E266K	p.E298K	NM_032847	NP_116236	Q96K31	CH076_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		5	923	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		298					Q53HC1	Missense_Mutation	SNP	ENST00000276704.4	37	c.892G>A	CCDS6341.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405268	0.62288	.	.	ENSG00000189376	ENST00000276704;ENST00000357082	.	.	.	5.71	5.71	0.89125	.	0.253816	0.44688	D	0.000433	T	0.56202	0.1969	L	0.52759	1.655	0.30037	N	0.812936	P;P	0.49559	0.925;0.925	P;P	0.52159	0.691;0.691	T	0.57242	-0.7845	9	0.48119	T	0.1	-1.2056	17.6383	0.88129	0.0:1.0:0.0:0.0	.	266;298	Q96EF9;Q96K31	.;CH076_HUMAN	K	298;266	.	ENSP00000276704:E298K	E	-	1	0	C8orf76	124307977	1.000000	0.71417	0.998000	0.56505	0.146000	0.21551	3.308000	0.51896	2.697000	0.92050	0.563000	0.77884	GAA		0.418	C8orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381748.1		NM_032847		4	26	0	0	0	0.021553	0	4	26		
MROH5	389690	broad.mit.edu	37	8	142490016	142490016	+	RNA	SNP	C	C	G			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr8:142490016C>G	ENST00000430863.1	-	0	1049					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		TCACCTCCCTCTGCTTGGGCC	0.592																																						uc003ywi.2		NaN																	0					0						c.(967-969)CAG>CAC		hypothetical protein LOC389690							79.0	88.0	85.0					8																	142490016		2050	4183	6233			389690						binding	g.chr8:142490016C>G			8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"""maestro heat-like repeat containing"""	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142490016C>G						FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA	p.Q323H	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		8	1050	-	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		323						Missense_Mutation	SNP	ENST00000430863.1	37	c.969G>C																																																																																					0.592	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4		NM_207414		12	48	0	0	0	0.11911	0	12	48		
GRINA	2907	broad.mit.edu	37	8	145066426	145066426	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr8:145066426C>T	ENST00000313269.5	+	5	985	c.707C>T	c.(706-708)gCc>gTc	p.A236V	GRINA_ENST00000395068.4_Missense_Mutation_p.A236V	NM_000837.1	NP_000828.1	Q7Z429	LFG1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)	236						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTCCTGACCGCCAGCCTGTCG	0.627																																						uc003zan.1		NaN																	0				central_nervous_system(1)	1						c.(706-708)GCC>GTC		glutamate receptor, ionotropic, N-methyl							84.0	66.0	72.0					8																	145066426		2203	4300	6503	SO:0001583	missense	2907					integral to membrane		g.chr8:145066426C>T	NM_001009184	CCDS34961.1	8q24.3	2010-03-18	2008-04-01						4589	protein-coding gene	gene with protein product	"""transmembrane BAX inhibitor motif containing 3"""	138251		NMDARA1		1719427, 8406459	Standard	XM_005250899		Approved	HNRGW, TMBIM3, LFG1	uc003zao.1	Q7Z429		ENST00000313269.5:c.707C>T	8.37:g.145066426C>T	ENSP00000314380:p.Ala236Val					GRINA_uc003zao.1_Missense_Mutation_p.A236V|GRINA_uc003zap.1_Missense_Mutation_p.A236V	p.A236V	NM_001009184	NP_001009184	Q7Z429	GRINA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		5	873	+	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		236			Helical; (Potential).		B3KXM7|O43836|Q8IVW7	Missense_Mutation	SNP	ENST00000313269.5	37	c.707C>T	CCDS34961.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.979|8.979	0.974814|0.974814	0.18736|0.18736	.|.	.|.	ENSG00000178719|ENSG00000178719	ENST00000313269;ENST00000529301;ENST00000395068;ENST00000537637|ENST00000534791	T;T;T|.	0.59224|.	0.28;1.0;0.28|.	5.38|5.38	4.23|4.23	0.50019|0.50019	.|.	0.682860|.	0.13982|.	N|.	0.349423|.	T|T	0.20536|0.20536	0.0494|0.0494	N|N	0.11724|0.11724	0.165|0.165	0.25054|0.25054	N|N	0.991115|0.991115	B|.	0.15141|.	0.012|.	B|.	0.12837|.	0.008|.	T|T	0.21042|0.21042	-1.0257|-1.0257	10|5	0.32370|.	T|.	0.25|.	-14.2875|-14.2875	7.4785|7.4785	0.27391|0.27391	0.0:0.1008:0.0:0.8992|0.0:0.1008:0.0:0.8992	.|.	236|.	Q7Z429|.	GRINA_HUMAN|.	V|S	236;236;236;217|215	ENSP00000314380:A236V;ENSP00000432706:A236V;ENSP00000378507:A236V|.	ENSP00000314380:A236V|.	A|P	+|+	2|1	0|0	GRINA|GRINA	145138414|145138414	0.998000|0.998000	0.40836|0.40836	0.972000|0.972000	0.41901|0.41901	0.378000|0.378000	0.30076|0.30076	5.661000|5.661000	0.68025|0.68025	0.901000|0.901000	0.36495|0.36495	-0.312000|-0.312000	0.09012|0.09012	GCC|CCA		0.627	GRINA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384048.1		NM_001009184		16	112	0	0	0	0.055883	0	16	112		
HSF1	3297	broad.mit.edu	37	8	145535421	145535421	+	Silent	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr8:145535421C>T	ENST00000528838.1	+	8	919	c.759C>T	c.(757-759)taC>taT	p.Y253Y	GS1-393G12.12_ENST00000525023.1_RNA|HSF1_ENST00000400780.4_Silent_p.Y188Y	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	253	Regulatory domain.				cellular response to heat (GO:0034605)|defense response (GO:0006952)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|female meiotic division (GO:0007143)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)|response to lipopolysaccharide (GO:0032496)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pronucleus (GO:0045120)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			CCAGCCTCTACGCCCCTGATG	0.672																																						uc003zbt.3		NaN																	0					0						c.(757-759)TAC>TAT		heat shock transcription factor 1							40.0	41.0	41.0					8																	145535421		2203	4296	6499	SO:0001819	synonymous_variant	3297					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:145535421C>T	M64673	CCDS6419.1	8q24.3	2014-04-10			ENSG00000185122	ENSG00000185122			5224	protein-coding gene	gene with protein product		140580				1871105	Standard	NM_005526		Approved	HSTF1	uc003zbt.4	Q00613	OTTHUMG00000174604	ENST00000528838.1:c.759C>T	8.37:g.145535421C>T						HSF1_uc003zbu.3_RNA	p.Y253Y	NM_005526	NP_005517	Q00613	HSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)		8	929	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		253			Regulatory domain.		A8K4L0|A8MW26|Q53XT4	Silent	SNP	ENST00000528838.1	37	c.759C>T	CCDS6419.1																																																																																				0.672	HSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382053.1		NM_005526		26	83	0	0	0	0.193644	0	26	83		
DOCK8	81704	broad.mit.edu	37	9	339064	339064	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr9:339064C>T	ENST00000453981.1	+	13	1593	c.1481C>T	c.(1480-1482)tCa>tTa	p.S494L	DOCK8_ENST00000469391.1_Missense_Mutation_p.S426L|DOCK8_ENST00000432829.2_Missense_Mutation_p.S426L			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	494					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TACAAAAGATCATCATCCTTA	0.398																																						uc003zgf.2		NaN																	0				ovary(3)|central_nervous_system(3)	6						c.(1480-1482)TCA>TTA		dedicator of cytokinesis 8							120.0	98.0	105.0					9																	339064		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:339064C>T	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.1481C>T	9.37:g.339064C>T	ENSP00000408464:p.Ser494Leu					DOCK8_uc011lls.1_Missense_Mutation_p.S494L|DOCK8_uc010mgu.2_5'UTR|DOCK8_uc010mgv.2_Missense_Mutation_p.S426L|DOCK8_uc003zgg.2_Missense_Mutation_p.S426L|DOCK8_uc003zgh.2_RNA	p.S494L	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	13	1593	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	494			DHR-1.		A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.1481C>T	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431497	0.83776	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391	T;T;T	0.76316	-1.01;-1.01;-1.01	6.08	6.08	0.98989	.	0.231260	0.45361	N	0.000361	T	0.76499	0.3996	L	0.59436	1.845	0.58432	D	0.999998	B;P	0.38745	0.389;0.645	B;B	0.36719	0.206;0.231	T	0.77054	-0.2730	10	0.51188	T	0.08	.	18.844	0.92196	0.0:1.0:0.0:0.0	.	426;494	E9PH09;Q8NF50	.;DOCK8_HUMAN	L	494;494;426;426	ENSP00000408464:S494L;ENSP00000394888:S426L;ENSP00000419438:S426L	ENSP00000287364:S494L	S	+	2	0	DOCK8	329064	1.000000	0.71417	0.996000	0.52242	0.827000	0.46813	5.350000	0.66016	2.894000	0.99253	0.655000	0.94253	TCA		0.398	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5		XM_036307		3	11	0	0	0	0.150653	0	3	11		
IFNA4	3441	broad.mit.edu	37	9	21187385	21187385	+	Missense_Mutation	SNP	T	T	G	rs201964250	byFrequency	TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr9:21187385T>G	ENST00000421715.1	-	1	213	c.146A>C	c.(145-147)cAt>cCt	p.H49P		NM_021068.2	NP_066546.1	P05014	IFNA4_HUMAN	interferon, alpha 4	49			H -> P (in dbSNP:rs3203573).		adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17				GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GCAGGAGAAATGAGAGATTCT	0.517													G|||	5	0.000998403	0.0	0.0	5008	,	,		19505	0.003		0.0	False		,,,				2504	0.002				NSCLC(154;890 1986 23660 27800 51138)	uc003zon.2		NaN																	0				ovary(1)|skin(1)	2						c.(145-147)CAT>CCT		interferon, alpha 4 precursor		G	PRO/HIS	3,4403		0,3,2200	95.0	95.0	95.0		146	-0.0	0.0	9		95	1,8597		0,1,4298	no	missense	IFNA4	NM_021068.2	77	0,4,6498	GG,GT,TT		0.0116,0.0681,0.0308	benign	49/190	21187385	4,13000	2203	4299	6502	SO:0001583	missense	3441				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21187385T>G		CCDS6498.1	9p22	2010-08-24			ENSG00000236637	ENSG00000236637		"""Interferons"""	5425	protein-coding gene	gene with protein product		147564				1385305	Standard	NM_021068		Approved	MGC142200, IFN-alpha4a	uc003zon.2	P05014	OTTHUMG00000019660	ENST00000421715.1:c.146A>C	9.37:g.21187385T>G	ENSP00000412897:p.His49Pro						p.H49P	NM_021068	NP_066546	P05014	IFNA4_HUMAN		GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	214	-			49					P13358|Q14CS4|Q5VV15	Missense_Mutation	SNP	ENST00000421715.1	37	c.146A>C	CCDS6498.1	.	.	.	.	.	.	.	.	.	.	-	0.008	-1.926809	0.00493	6.81E-4	1.16E-4	ENSG00000236637	ENST00000421715	T	0.02837	4.14	2.96	-0.034	0.13898	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.348813	0.29846	N	0.011045	T	0.00356	0.0011	N	0.00005	-3.31	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45205	-0.9277	10	0.02654	T	1	.	3.6088	0.08053	0.3454:0.0:0.4759:0.1788	rs3203573;rs17840674	49	P05014	IFNA4_HUMAN	P	49	ENSP00000412897:H49P	ENSP00000412897:H49P	H	-	2	0	IFNA4	21177385	0.000000	0.05858	0.042000	0.18584	0.124000	0.20399	-0.173000	0.09854	-0.139000	0.11414	-1.171000	0.01739	CAT		0.517	IFNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051889.1		NM_021068		30	55	0	0	0	0.086207	0	30	55		
OR13F1	138805	broad.mit.edu	37	9	107267429	107267429	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr9:107267429G>C	ENST00000334726.2	+	1	975	c.886G>C	c.(886-888)Gag>Cag	p.E296Q		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	296						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(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ACGGAACAAAGAGGTGAAAGT	0.373																																						uc011lvm.1		NaN																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(886-888)GAG>CAG		olfactory receptor, family 13, subfamily F,							47.0	49.0	48.0					9																	107267429		2203	4300	6503	SO:0001583	missense	138805				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107267429G>C		CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"""GPCR / Class A : Olfactory receptors"""	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.886G>C	9.37:g.107267429G>C	ENSP00000334452:p.Glu296Gln						p.E296Q	NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN			1	886	+			296			Cytoplasmic (Potential).		Q6IF50	Missense_Mutation	SNP	ENST00000334726.2	37	c.886G>C	CCDS35087.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737606	0.69304	.	.	ENSG00000186881	ENST00000334726	T	0.38240	1.15	4.3	4.3	0.51218	.	0.000000	0.51477	D	0.000087	T	0.38746	0.1052	N	0.16656	0.425	0.31375	N	0.679749	D	0.62365	0.991	P	0.58130	0.833	T	0.44251	-0.9340	10	0.87932	D	0	.	15.0807	0.72113	0.0:0.0:1.0:0.0	.	296	Q8NGS4	O13F1_HUMAN	Q	296	ENSP00000334452:E296Q	ENSP00000334452:E296Q	E	+	1	0	OR13F1	106307250	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.402000	0.66332	2.681000	0.91329	0.655000	0.94253	GAG		0.373	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1				20	4	0	0	0	0.076483	0	20	4		
NUP188	23511	broad.mit.edu	37	9	131745215	131745215	+	Silent	SNP	C	C	T			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr9:131745215C>T	ENST00000372577.2	+	17	1725	c.1704C>T	c.(1702-1704)atC>atT	p.I568I		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	568					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TCAAACCCATCATTGATCTCG	0.502																																						uc004bws.1		NaN																	0				ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						c.(1702-1704)ATC>ATT		nucleoporin 188kDa							172.0	132.0	146.0					9																	131745215		2203	4300	6503	SO:0001819	synonymous_variant	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131745215C>T	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.1704C>T	9.37:g.131745215C>T						NUP188_uc004bwu.2_5'Flank	p.I568I	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN			17	1726	+			568					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Silent	SNP	ENST00000372577.2	37	c.1704C>T	CCDS35156.1																																																																																				0.502	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2				40	52	0	0	0	0.139131	0	40	52		
GPR107	57720	broad.mit.edu	37	9	132889830	132889830	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr9:132889830G>A	ENST00000372406.1	+	18	2076	c.1569G>A	c.(1567-1569)tgG>tgA	p.W523*	GPR107_ENST00000372410.3_Nonsense_Mutation_p.W494*|GPR107_ENST00000347136.6_Nonsense_Mutation_p.W475*	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	523						integral component of membrane (GO:0016021)				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				CATTCCAGTGGAAGTGGCTCT	0.418																																						uc004bze.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(1567-1569)TGG>TGA		G protein-coupled receptor 107 isoform 1							134.0	110.0	118.0					9																	132889830		2203	4300	6503	SO:0001587	stop_gained	57720					integral to membrane		g.chr9:132889830G>A	AF376725	CCDS35162.1, CCDS48041.1, CCDS48042.1	9q34.2	2014-01-30			ENSG00000148358	ENSG00000148358		"""GPCR / Unclassified : 7TM orphan receptors"""	17830	protein-coding gene	gene with protein product							Standard	NM_020960		Approved	KIAA1624, RP11-88G17, FLJ20998, LUSTR1	uc004bzd.2	Q5VW38	OTTHUMG00000020804	ENST00000372406.1:c.1569G>A	9.37:g.132889830G>A	ENSP00000361483:p.Trp523*					GPR107_uc004bzb.2_Nonsense_Mutation_p.W286*|GPR107_uc004bzc.3_RNA|GPR107_uc011mbx.1_Nonsense_Mutation_p.W494*|GPR107_uc004bzd.2_Nonsense_Mutation_p.W475*|GPR107_uc004bzg.1_5'Flank	p.W523*	NM_001136557	NP_001130029	Q5VW38	GP107_HUMAN			18	1796	+		Ovarian(14;0.000531)	523					A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8	Nonsense_Mutation	SNP	ENST00000372406.1	37	c.1569G>A	CCDS48041.1	.	.	.	.	.	.	.	.	.	.	G	42	9.651873	0.99230	.	.	ENSG00000148358	ENST00000372406;ENST00000347136;ENST00000372410	.	.	.	5.6	5.6	0.85130	.	0.162116	0.43919	D	0.000515	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-7.588	18.2059	0.89854	0.0:0.0:1.0:0.0	.	.	.	.	X	523;475;494	.	ENSP00000336988:W475X	W	+	3	0	GPR107	131929651	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.165000	0.77544	2.642000	0.89623	0.655000	0.94253	TGG		0.418	GPR107-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054643.2				25	12	0	0	0	0.153744	0	25	12		
ZNF645	158506	broad.mit.edu	37	X	22291896	22291896	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chrX:22291896G>A	ENST00000323684.1	+	1	832	c.788G>A	c.(787-789)tGt>tAt	p.C263Y		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	263	Pro-rich.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						TATCCTGAGTGTCAAAGTCAA	0.413																																						uc004dai.1		NaN																	0				lung(1)|pancreas(1)	2						c.(787-789)TGT>TAT		zinc finger protein 645							151.0	131.0	138.0					X																	22291896		2203	4300	6503	SO:0001583	missense	158506					intracellular	zinc ion binding	g.chrX:22291896G>A	AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809			26371	protein-coding gene	gene with protein product							Standard	NM_152577		Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.788G>A	X.37:g.22291896G>A	ENSP00000323348:p.Cys263Tyr						p.C263Y	NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN			1	837	+			263			Pro-rich.		A0AV29|A0AV31|E3SBK4|Q6DJY9	Missense_Mutation	SNP	ENST00000323684.1	37	c.788G>A	CCDS14205.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-2.007857	0.00426	.	.	ENSG00000175809	ENST00000323684	T	0.25912	1.77	3.08	-2.41	0.06562	.	0.089688	0.46442	N	0.000284	T	0.04363	0.0120	N	0.00707	-1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26950	-1.0088	10	0.02654	T	1	.	4.9335	0.13928	0.4084:0.0:0.4351:0.1565	.	263	Q8N7E2	ZN645_HUMAN	Y	263	ENSP00000323348:C263Y	ENSP00000323348:C263Y	C	+	2	0	ZNF645	22201817	0.811000	0.29063	0.000000	0.03702	0.012000	0.07955	0.921000	0.28718	-1.161000	0.02800	-0.314000	0.08810	TGT		0.413	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056037.1		NM_152577		55	70	0	0	0	0.139131	0	55	70		
KDM6A	7403	broad.mit.edu	37	X	44949017	44949017	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chrX:44949017G>A	ENST00000377967.4	+	25	3619	c.3578G>A	c.(3577-3579)tGg>tAg	p.W1193*	KDM6A_ENST00000536777.1_Nonsense_Mutation_p.W1148*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.W1200*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.W1114*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1193	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						ATGGGTTCTTGGTGGCCCAAT	0.353			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	uc004dge.3		NaN		Rec	yes		X	Xp11.2	7403	D|N|F|S	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			renal|oesophageal SCC|MM		6	Whole gene deletion(6)		oesophagus(2)|breast(2)|pancreas(2)	kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						c.(3577-3579)TGG>TAG		ubiquitously transcribed tetratricopeptide							106.0	90.0	96.0					X																	44949017		2203	4300	6503	SO:0001587	stop_gained	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44949017G>A	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.3578G>A	X.37:g.44949017G>A	ENSP00000367203:p.Trp1193*					KDM6A_uc011mkz.1_Nonsense_Mutation_p.W1245*|KDM6A_uc011mla.1_Nonsense_Mutation_p.W1148*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.W1200*|KDM6A_uc011mlc.1_Nonsense_Mutation_p.W897*|KDM6A_uc011mld.1_Nonsense_Mutation_p.W832*	p.W1193*	NM_021140	NP_066963	O15550	KDM6A_HUMAN			25	3953	+			1193			JmjC.		Q52LL9|Q5JVQ7	Nonsense_Mutation	SNP	ENST00000377967.4	37	c.3578G>A	CCDS14265.1	.	.	.	.	.	.	.	.	.	.	G	39	7.547041	0.98352	.	.	ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.6136	17.8727	0.88815	0.0:0.0:1.0:0.0	.	.	.	.	X	890;1193;1148;1200;1114	.	ENSP00000334340:W890X	W	+	2	0	KDM6A	44833961	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.358000	0.97109	2.153000	0.67306	0.468000	0.43344	TGG		0.353	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1		NM_021140		9	1	0	0	0	0.069234	0	9	1		
HUWE1	10075	broad.mit.edu	37	X	53620499	53620499	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chrX:53620499G>C	ENST00000342160.3	-	31	4023	c.3566C>G	c.(3565-3567)tCa>tGa	p.S1189*	HUWE1_ENST00000218328.8_Nonsense_Mutation_p.S1189*|HUWE1_ENST00000262854.6_Nonsense_Mutation_p.S1189*			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1189					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGGCAAGTCTGAGTGTTCCAA	0.453																																						uc004dsp.2		NaN																	0				ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(3565-3567)TCA>TGA		HECT, UBA and WWE domain containing 1							93.0	74.0	81.0					X																	53620499		2203	4300	6503	SO:0001587	stop_gained	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53620499G>C	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.3566C>G	X.37:g.53620499G>C	ENSP00000340648:p.Ser1189*					HUWE1_uc004dsn.2_Nonsense_Mutation_p.S14*	p.S1189*	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			32	3968	-			1189					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Nonsense_Mutation	SNP	ENST00000342160.3	37	c.3566C>G	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	G	45	11.860351	0.99611	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	.	.	.	5.42	4.56	0.56223	.	0.456842	0.21046	N	0.081085	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	8.0438	0.30536	0.0886:0.1566:0.7548:0.0	.	.	.	.	X	1189	.	ENSP00000218328:S1189X	S	-	2	0	HUWE1	53637224	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	5.355000	0.66046	1.070000	0.40811	0.436000	0.28706	TCA		0.453	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1		XM_497119		18	25	0	0	0	0.189662	0	18	25		
SNX27	81609	broad.mit.edu	37	1	151584734	151584735	+	In_Frame_Ins	INS	-	-	GGC	rs567208173	byFrequency	TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:151584734_151584735insGGC	ENST00000458013.2	+	1	177_178	c.57_58insGGC	c.(58-60)ggc>GGCggc	p.20_20G>GG	RP11-404E16.1_ENST00000504583.2_RNA|SNX27_ENST00000368843.3_In_Frame_Ins_p.20_20G>GG			Q96L92	SNX27_HUMAN	sorting nexin family member 27	20					endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGAAcggaggtggcggcggcgg	0.738														3	0.000599042	0.0008	0.0014	5008	,	,		10116	0.0		0.001	False		,,,				2504	0.0				Colon(46;291 966 40145 41237 41888)	uc001eyn.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(55-60)insGGC		sorting nexin family member 27																																				SO:0001652	inframe_insertion	81609				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding	g.chr1:151584734_151584735insGGC	AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"""Sorting nexins"""	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.67_69dupGGC	1.37:g.151584741_151584743dupGGC	ENSP00000400333:p.Gly25dup						p.25_26insG	NM_030918	NP_112180	Q96L92	SNX27_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		1	73_74	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		25_26					Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	In_Frame_Ins	INS	ENST00000458013.2	37	c.57_58insGGC																																																																																					0.738	SNX27-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000036624.3		NM_030918		10	20	NaN	NaN	NaN	NaN	NaN	10	20	---	---
BTG2	7832	broad.mit.edu	37	1	203276381	203276382	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08			AG	-	AG	AG		Valid	Somatic	Phase_I	WXS	RNASeq			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr1:203276381_203276382delAG	ENST00000290551.4	+	2	363_364	c.292_293delAG	c.(292-294)agcfs	p.S98fs	RP11-134P9.1_ENST00000457348.1_lincRNA	NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	98					anterior/posterior pattern specification (GO:0009952)|associative learning (GO:0008306)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system neuron development (GO:0021954)|dentate gyrus development (GO:0021542)|DNA repair (GO:0006281)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of translation (GO:0017148)|neuron projection development (GO:0031175)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|protein methylation (GO:0006479)|response to electrical stimulus (GO:0051602)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|skeletal muscle cell differentiation (GO:0035914)	extracellular vesicular exosome (GO:0070062)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			GCTGCTGCCCAGCGAGCTGACC	0.644																																						uc001gzq.2		NaN																	0				ovary(1)|kidney(1)|skin(1)	3						c.(292-294)AGCfs		B-cell translocation gene 2																																				SO:0001589	frameshift_variant	7832				DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr1:203276381_203276382delAG		CCDS1437.1	1q32	2008-07-18			ENSG00000159388	ENSG00000159388			1131	protein-coding gene	gene with protein product	"""B-cell translocation gene 2"", ""pheochromacytoma cell-3"", ""NGF-inducible anti-proliferative protein PC3"", ""nerve growth factor-inducible anti-proliferative"""	601597				8944033	Standard	NM_006763		Approved	PC3, TIS21, MGC126063, MGC126064	uc001gzq.3	P78543	OTTHUMG00000035834	ENST00000290551.4:c.292_293delAG	1.37:g.203276381_203276382delAG	ENSP00000290551:p.Ser98fs					FMOD_uc010pqi.1_Intron|uc009xao.1_5'Flank|uc001gzp.1_5'Flank|BTG2_uc009xap.1_RNA	p.S98fs	NM_006763	NP_006754	P78543	BTG2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.203)		2	363_364	+			98					A0A024R986|Q3KR25|Q5VUT0	Frame_Shift_Del	DEL	ENST00000290551.4	37	c.292_293delAG	CCDS1437.1																																																																																				0.644	BTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087168.1		NM_006763		34	93	NaN	NaN	NaN	NaN	NaN	34	93	---	---
PPFIA1	8500	broad.mit.edu	37	11	70194407	70194407	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr11:70194407delC	ENST00000253925.7	+	16	2259	c.2044delC	c.(2044-2046)cccfs	p.P683fs	PPFIA1_ENST00000389547.3_Frame_Shift_Del_p.P683fs|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	683					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GAGCTCCATTCCCCCCTACCC	0.557																																						uc001opo.2		NaN																	0				lung(2)|ovary(1)	3						c.(2044-2046)CCCfs		PTPRF interacting protein alpha 1 isoform b							235.0	199.0	211.0					11																	70194407		2200	4294	6494	SO:0001589	frameshift_variant	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70194407delC	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.2044delC	11.37:g.70194407delC	ENSP00000253925:p.Pro683fs					PPFIA1_uc001opn.1_Frame_Shift_Del_p.P682fs|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA	p.P682fs	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		16	2242	+			682					A6NLE3|Q13135|Q14567|Q8N4I2	Frame_Shift_Del	DEL	ENST00000253925.7	37	c.2044delC	CCDS31627.1																																																																																				0.557	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1		NM_003626		8	2895	NaN	NaN	NaN	NaN	NaN	8	2895	---	---
SLFN12L	100506736	broad.mit.edu	37	17	33806620	33806620	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr17:33806620delA	ENST00000260908.7	-	2	726	c.609delT	c.(607-609)tttfs	p.F203fs	SLFN12L_ENST00000449046.1_Frame_Shift_Del_p.F234fs|SLFN12L_ENST00000361112.4_Frame_Shift_Del_p.F232fs|RP11-686D22.9_ENST00000587076.1_RNA	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	203						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)	p.N235fs*1(4)		breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						CTGTTCTGTTAAAAAAATCAG	0.368																																						uc002hjn.2		NaN																	4	Insertion - Frameshift(4)		large_intestine(4)	ovary(1)	1						c.(694-696)TTTfs		schlafen family member 12-like							73.0	58.0	62.0					17																	33806620		692	1591	2283	SO:0001589	frameshift_variant	342615							g.chr17:33806620delA	AK172761	CCDS56026.1	17q12	2011-05-24				ENSG00000205045			33920	protein-coding gene	gene with protein product		614956				9846487	Standard	NM_001195790		Approved		uc021tuy.1	Q6IEE8		ENST00000260908.7:c.609delT	17.37:g.33806620delA	ENSP00000437635:p.Phe203fs						p.F232fs	NM_001145027	NP_001138499					3	1575	-								F5H6G3	Frame_Shift_Del	DEL	ENST00000260908.7	37	c.696delT	CCDS56026.1																																																																																				0.368	SLFN12L-004	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395748.2		XM_496206		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
PLPPR2	64748	broad.mit.edu	37	19	11473280	11473288	+	In_Frame_Del	DEL	GCGTGGTCC	GCGTGGTCC	-			TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr19:11473280_11473288delGCGTGGTCC	ENST00000251473.5	+	7	1131_1139	c.755_763delGCGTGGTCC	c.(754-765)ggcgtggtccgc>ggc	p.VVR253del	DKFZP761J1410_ENST00000591608.1_In_Frame_Del_p.VVR228del	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					TTCCTGGTGGGCGTGGTCCGCGTGGCCGA	0.651																																						uc002mre.1		NaN																	0				large_intestine(1)	1						c.(754-765)GGCGTGGTCCGC>GGC		lipid phosphate phosphatase-related protein type																																				SO:0001651	inframe_deletion	64748					integral to membrane	phosphatidate phosphatase activity	g.chr19:11473280_11473288delGCGTGGTCC																												ENST00000251473.5:c.755_763delGCGTGGTCC	19.37:g.11473280_11473288delGCGTGGTCC	ENSP00000251473:p.Val253_Arg255del					LPPR2_uc002mrf.1_In_Frame_Del_p.VVR228del|LPPR2_uc010dxy.1_In_Frame_Del_p.VVR60del	p.VVR253del	NM_022737	NP_073574	Q96GM1	LPPR2_HUMAN			7	1092_1100	+			253_255			Helical; (Potential).			In_Frame_Del	DEL	ENST00000251473.5	37	c.755_763delGCGTGGTCC	CCDS12258.1																																																																																				0.651	DKFZP761J1410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458779.1				22	137	NaN	NaN	NaN	NaN	NaN	22	137	---	---
LILRB1	10859	broad.mit.edu	37	19	55146148	55146150	+	In_Frame_Del	DEL	CTC	CTC	-	rs543059448	byFrequency	TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr19:55146148_55146150delCTC	ENST00000396331.1	+	11	1774_1776	c.1417_1419delCTC	c.(1417-1419)ctcdel	p.L479del	LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	479					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CAtcctactgctcctcctcctcc	0.581										HNSCC(37;0.09)				8	0.00159744	0.0023	0.0014	5008	,	,		18237	0.002		0.001	False		,,,				2504	0.001					uc002qgj.2		NaN																	0		p.L479del(1)		large_intestine(1)|ovary(1)|skin(1)	3						c.(1417-1419)CTCdel		leukocyte immunoglobulin-like receptor,			,,,	21,4241		0,21,2110					,,,	0.7	0.0			137	49,8205		0,49,4078	no	coding,coding,coding,coding	LILRB1	NM_006669.3,NM_001081639.1,NM_001081638.1,NM_001081637.1	,,,	0,70,6188	A1A1,A1R,RR		0.5937,0.4927,0.5593	,,,	,,,		70,12446				SO:0001651	inframe_deletion	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55146148_55146150delCTC	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1417_1419delCTC	19.37:g.55146157_55146159delCTC	ENSP00000379622:p.Leu479del	HNSCC(37;0.09)				LILRB1_uc010erp.1_In_Frame_Del_p.L94del|LILRB1_uc002qgl.2_In_Frame_Del_p.L479del|LILRB1_uc002qgk.2_In_Frame_Del_p.L480del|LILRB1_uc002qgm.2_In_Frame_Del_p.L480del|LILRB1_uc010erq.2_In_Frame_Del_p.L463del|LILRB1_uc010err.2_RNA	p.L479del	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	11	1757_1759	+			479			Helical; (Potential).		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	In_Frame_Del	DEL	ENST00000396331.1	37	c.1417_1419delCTC	CCDS42617.1																																																																																				0.581	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4				9	80	NaN	NaN	NaN	NaN	NaN	9	80	---	---
FOXC1	2296	broad.mit.edu	37	6	1611802	1611803	+	In_Frame_Ins	INS	-	-	GGC	rs398123611|rs76840944|rs545470261	byFrequency	TCGA-CU-A3KJ-01A-11D-A21A-08	TCGA-CU-A3KJ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e22c6a44-4f8e-44eb-8ca8-dff0f2fc5575	e5b3d378-b7dd-458b-ac52-9892a5a571eb	g.chr6:1611802_1611803insGGC	ENST00000380874.2	+	1	1122_1123	c.1122_1123insGGC	c.(1123-1125)ggc>GGCggc	p.375_375G>GG		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	375	Poly-Gly.				artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|eye development (GO:0001654)|germ cell migration (GO:0008354)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lacrimal gland development (GO:0032808)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of mitotic cell cycle (GO:0045930)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|paraxial mesoderm formation (GO:0048341)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		cgggcagctcgggcggcggcgg	0.797														762	0.152157	0.0287	0.0764	5008	,	,		3835	0.2867		0.1173	False		,,,				2504	0.2699				Pancreas(133;719 1821 3197 26645 35015)	uc003mtp.2		NaN																	0				ovary(1)	1						c.(1120-1125)insGGC		forkhead box C1				16,80		8,0,40						-2.3	0.0		dbSNP_130	1	41,219		19,3,108	no	coding	FOXC1	NM_001453.2		27,3,148	A1A1,A1R,RR		15.7692,16.6667,16.0112				57,299				SO:0001652	inframe_insertion	2296				anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr6:1611802_1611803insGGC	AF048693	CCDS4473.1	6p25	2008-04-10			ENSG00000054598	ENSG00000054598		"""Forkhead boxes"""	3800	protein-coding gene	gene with protein product		601090		FKHL7, IRID1		7957066, 9620769	Standard	NM_001453		Approved	FREAC3, ARA, IGDA, IHG1	uc003mtp.3	Q12948	OTTHUMG00000016182	ENST00000380874.2:c.1138_1140dupGGC	6.37:g.1611809_1611811dupGGC	ENSP00000370256:p.Gly380dup						p.380_381insG	NM_001453	NP_001444	Q12948	FOXC1_HUMAN		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)	1	1122_1123	+	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)	380_381			Poly-Gly.		Q86UP7|Q9BYM1|Q9NUE5|Q9UDD0|Q9UP06	In_Frame_Ins	INS	ENST00000380874.2	37	c.1122_1123insGGC	CCDS4473.1																																																																																				0.797	FOXC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043450.1				4	5	NaN	NaN	NaN	NaN	NaN	4	5	---	---
