#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
AIM1L	55057	broad.mit.edu	37	1	26658052	26658052	+	Silent	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:26658052G>A	ENST00000308182.5	-	14	1536	c.1107C>T	c.(1105-1107)ggC>ggT	p.G369G	AIM1L_ENST00000527815.1_Silent_p.G540G			Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	369	Beta/gamma crystallin 'Greek key' 8. {ECO:0000255|PROSITE-ProRule:PRU00028}.						carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		TGGGGAACTCGCCCTCAGAGA	0.567																																						uc001bmd.3		NA																	0				pancreas(1)	1						c.(1105-1107)GGC>GGT		absent in melanoma 1-like							116.0	96.0	102.0					1																	26658052		2203	4300	6503	SO:0001819	synonymous_variant	55057						sugar binding	g.chr1:26658052G>A			1p35	2010-07-14			ENSG00000176092	ENSG00000176092			17295	protein-coding gene	gene with protein product	"""beta-gamma crystallin domain containing 2"""						Standard	NM_001039775		Approved	CRYBG2, FLJ38020	uc001bmd.4	Q8N1P7	OTTHUMG00000003490	ENST00000308182.5:c.1107C>T	1.37:g.26658052G>A							p.G369G	NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)	14	1537	-		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	369			Beta/gamma crystallin 'Greek key' 8.		B2RNG3|Q5T137|Q5T150	Silent	SNP	ENST00000308182.5	37	c.1107C>T																																																																																					0.567	AIM1L-201	KNOWN	basic	protein_coding	protein_coding		NM_001039775.2		18	29	0	0	0	0	18	29				
RCC1	1104	broad.mit.edu	37	1	28864461	28864461	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:28864461C>A	ENST00000373833.6	+	13	1493	c.1208C>A	c.(1207-1209)tCt>tAt	p.S403Y	RCC1_ENST00000373831.3_Missense_Mutation_p.S434Y|RCC1_ENST00000398958.2_Missense_Mutation_p.S403Y|RCC1_ENST00000373832.1_Missense_Mutation_p.S403Y			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	403					chromosome segregation (GO:0007059)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of Ran GTPase activity (GO:0032853)|regulation of mitosis (GO:0007088)|spindle assembly (GO:0051225)|viral process (GO:0016032)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosomal DNA binding (GO:0031492)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGTCTTATCTGTGTCCAGC	0.577																																						uc001bqg.1		NA																	0				ovary(1)	1						c.(1207-1209)TCT>TAT		regulator of chromosome condensation 1 isoform							73.0	72.0	73.0					1																	28864461		2203	4300	6503	SO:0001583	missense	1104				cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity	g.chr1:28864461C>A	X12654	CCDS323.1, CCDS41295.1	1p35.3	2008-08-18	2005-05-09	2005-05-09	ENSG00000180198	ENSG00000180198			1913	protein-coding gene	gene with protein product		179710	"""chromosome condensation 1"""	CHC1		7851910	Standard	NM_001048199		Approved		uc001bqf.2	P18754	OTTHUMG00000003645	ENST00000373833.6:c.1208C>A	1.37:g.28864461C>A	ENSP00000362939:p.Ser403Tyr					SNHG3-RCC1_uc001bqa.1_Missense_Mutation_p.S403Y|SNHG3-RCC1_uc001bqb.1_Missense_Mutation_p.S403Y|SNHG3-RCC1_uc001bqc.1_Missense_Mutation_p.S403Y|RCC1_uc001bqe.1_Missense_Mutation_p.S420Y|RCC1_uc001bqf.1_Missense_Mutation_p.S434Y	p.S403Y	NM_001269	NP_001260	P18754	RCC1_HUMAN		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)	10	1293	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)	403			RCC1 7.		Q16269|Q6NT97	Missense_Mutation	SNP	ENST00000373833.6	37	c.1208C>A	CCDS323.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.675112	0.47781	.	.	ENSG00000180198	ENST00000398958;ENST00000373833;ENST00000373832;ENST00000373831	D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98	5.3	5.3	0.74995	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.289221	0.39985	N	0.001219	D	0.85682	0.5753	L	0.58925	1.835	0.47065	D	0.999305	P;P;P	0.46277	0.77;0.875;0.611	B;P;B	0.44696	0.401;0.458;0.236	D	0.87157	0.2212	10	0.59425	D	0.04	-2.9244	17.8824	0.88844	0.0:1.0:0.0:0.0	.	434;420;403	P18754-2;E9PAT9;P18754	.;.;RCC1_HUMAN	Y	403;403;403;434	ENSP00000381931:S403Y;ENSP00000362939:S403Y;ENSP00000362938:S403Y;ENSP00000362937:S434Y	ENSP00000362937:S434Y	S	+	2	0	RCC1	28737048	0.999000	0.42202	0.997000	0.53966	0.991000	0.79684	4.677000	0.61634	2.632000	0.89209	0.655000	0.94253	TCT		0.577	RCC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010323.3	NM_001269		5	20	1	0	0.000602214	0.000641261	5	20				
PTPRU	10076	broad.mit.edu	37	1	29609426	29609426	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:29609426C>G	ENST00000345512.3	+	12	2236	c.2107C>G	c.(2107-2109)Ctc>Gtc	p.L703V	PTPRU_ENST00000323874.8_Missense_Mutation_p.L703V|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000356870.3_Missense_Mutation_p.L703V|PTPRU_ENST00000460170.2_Missense_Mutation_p.L703V|PTPRU_ENST00000428026.2_Missense_Mutation_p.L703V|PTPRU_ENST00000373779.3_Missense_Mutation_p.L703V	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	703					canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GAAGGCCTATCTCATCTACTT	0.617																																						uc001bru.2		NA																	0				large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7						c.(2107-2109)CTC>GTC		protein tyrosine phosphatase, receptor type, U							65.0	68.0	67.0					1																	29609426		2203	4300	6503	SO:0001583	missense	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29609426C>G	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.2107C>G	1.37:g.29609426C>G	ENSP00000334941:p.Leu703Val					PTPRU_uc001brv.2_Missense_Mutation_p.L703V|PTPRU_uc001brw.2_Missense_Mutation_p.L703V|PTPRU_uc009vtq.2_Missense_Mutation_p.L703V|PTPRU_uc009vtr.2_Missense_Mutation_p.L703V	p.L703V	NM_005704	NP_005695	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	12	2217	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	703			Extracellular (Potential).		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	c.2107C>G	CCDS334.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097301	0.76870	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.30182	1.57;1.6;1.6;1.6;1.54;1.6	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000002	T	0.55401	0.1918	M	0.68317	2.08	0.51767	D	0.999931	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.87578	0.998;0.998;0.998;0.996;0.996	T	0.52697	-0.8541	9	.	.	.	.	18.1382	0.89630	0.0:1.0:0.0:0.0	.	703;703;703;703;703	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	V	703	ENSP00000334941:L703V;ENSP00000362884:L703V;ENSP00000349333:L703V;ENSP00000314987:L703V;ENSP00000392332:L703V;ENSP00000432906:L703V	.	L	+	1	0	PTPRU	29482013	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.866000	0.63005	2.529000	0.85273	0.448000	0.29417	CTC		0.617	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			12	53	0	0	0	0	12	53				
C1orf94	84970	broad.mit.edu	37	1	34666533	34666533	+	Silent	SNP	C	C	T	rs375613990		TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:34666533C>T	ENST00000488417.1	+	3	1290	c.1170C>T	c.(1168-1170)gcC>gcT	p.A390A	C1orf94_ENST00000373374.3_Silent_p.A200A	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	390										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CATGTCCAGCCGAGAAGAACT	0.592																																						uc001bxs.3		NA																	0					0						c.(598-600)GCC>GCT		hypothetical protein LOC84970 isoform b		C	,	0,4406		0,0,2203	53.0	53.0	53.0		1170,600	-11.5	0.0	1		53	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	C1orf94	NM_001134734.1,NM_032884.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	390/599,200/409	34666533	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84970						protein binding	g.chr1:34666533C>T	AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.1170C>T	1.37:g.34666533C>T						C1orf94_uc001bxt.2_Silent_p.A390A	p.A200A	NM_032884	NP_116273	Q6P1W5	CA094_HUMAN			3	999	+		Myeloproliferative disorder(586;0.0393)	200					B3KVT1|D3DPR3|E9PJ76|Q96IC8	Silent	SNP	ENST00000488417.1	37	c.600C>T	CCDS44108.1																																																																																				0.592	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	NM_032884		13	27	0	0	0	0	13	27				
INPP5B	3633	broad.mit.edu	37	1	38357097	38357097	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:38357097T>A	ENST00000373026.1	-	7	802	c.802A>T	c.(802-804)Aat>Tat	p.N268Y	INPP5B_ENST00000373024.3_Missense_Mutation_p.N188Y|INPP5B_ENST00000373023.2_Missense_Mutation_p.N268Y|INPP5B_ENST00000458109.2_5'Flank|INPP5B_ENST00000373027.1_Missense_Mutation_p.N24Y			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	268					in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCCTTCCCATTTGGTCTCAAA	0.448																																						uc001ccg.1		NA																	0				urinary_tract(1)	1						c.(562-564)AAT>TAT		inositol polyphosphate-5-phosphatase, 75kDa							166.0	168.0	167.0					1																	38357097		1890	4102	5992	SO:0001583	missense	3633				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chr1:38357097T>A	M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"""inositol polyphosphate-5-phosphatase, 75kD"""			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.802A>T	1.37:g.38357097T>A	ENSP00000362117:p.Asn268Tyr					INPP5B_uc009vvk.1_Missense_Mutation_p.N129Y|INPP5B_uc001ccf.1_Missense_Mutation_p.N24Y|INPP5B_uc010oij.1_5'Flank	p.N188Y	NM_005540	NP_005531	P32019	I5P2_HUMAN			8	656	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	268					C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Missense_Mutation	SNP	ENST00000373026.1	37	c.562A>T		.	.	.	.	.	.	.	.	.	.	T	10.55	1.380467	0.24944	.	.	ENSG00000204084	ENST00000373027;ENST00000373023;ENST00000373029;ENST00000373026;ENST00000373024	D;D;D;D	0.93426	-3.22;-3.12;-3.12;-3.04	5.38	0.367	0.16140	.	38.805400	0.00166	N	0.000000	D	0.93723	0.7994	L	0.59436	1.845	0.34094	D	0.661053	P;P	0.49862	0.929;0.913	P;P	0.49752	0.474;0.621	D	0.83865	0.0270	10	0.66056	D	0.02	.	8.1243	0.30988	0.0:0.3263:0.0:0.6737	.	268;188	P32019;P32019-2	I5P2_HUMAN;.	Y	24;268;268;268;188	ENSP00000362118:N24Y;ENSP00000362114:N268Y;ENSP00000362117:N268Y;ENSP00000362115:N188Y	ENSP00000362114:N268Y	N	-	1	0	INPP5B	38129684	0.489000	0.26004	0.049000	0.19019	0.098000	0.18820	0.330000	0.19715	-0.123000	0.11745	-0.280000	0.10049	AAT		0.448	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1	NM_005540		44	87	0	0	0	0	44	87				
FHL3	2275	broad.mit.edu	37	1	38463526	38463526	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:38463526C>G	ENST00000373016.3	-	5	686	c.518G>C	c.(517-519)gGa>gCa	p.G173A	FHL3_ENST00000485803.1_5'UTR	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN	four and a half LIM domains 3	173	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|muscle organ development (GO:0007517)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)|Z disc (GO:0030018)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GTATGTCACTCCACCCTGTGT	0.607																																						uc001ccj.2		NA																	0					0						c.(517-519)GGA>GCA		four and a half LIM domains 3							71.0	70.0	71.0					1																	38463526		2203	4300	6503	SO:0001583	missense	2275				muscle organ development		zinc ion binding	g.chr1:38463526C>G	BC011697	CCDS30678.1	1p34.3	2008-02-05			ENSG00000183386	ENSG00000183386			3704	protein-coding gene	gene with protein product		602790				8753811, 10226657	Standard	NM_004468		Approved	SLIM2	uc001cck.3	Q13643	OTTHUMG00000004434	ENST00000373016.3:c.518G>C	1.37:g.38463526C>G	ENSP00000362107:p.Gly173Ala					FHL3_uc001cck.2_Missense_Mutation_p.G173A|FHL3_uc001ccl.2_Missense_Mutation_p.G173A|FHL3_uc001ccm.2_Missense_Mutation_p.G65A|FHL3_uc009vvl.1_3'UTR	p.G173A	NM_004468	NP_004459	Q13643	FHL3_HUMAN			5	605	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	173			LIM zinc-binding 3.		D3DPT6|Q6I9T0|Q9BVA2	Missense_Mutation	SNP	ENST00000373016.3	37	c.518G>C	CCDS30678.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331637	0.81690	.	.	ENSG00000183386	ENST00000373016	D	0.86956	-2.19	5.18	5.18	0.71444	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.92195	0.7525	L	0.52905	1.665	0.80722	D	1	D;D	0.89917	1.0;0.996	D;P	0.91635	0.999;0.883	D	0.92942	0.6373	10	0.87932	D	0	.	18.6793	0.91541	0.0:1.0:0.0:0.0	.	65;173	Q96C98;Q13643	.;FHL3_HUMAN	A	173	ENSP00000362107:G173A	ENSP00000362107:G173A	G	-	2	0	FHL3	38236113	1.000000	0.71417	0.994000	0.49952	0.950000	0.60333	7.651000	0.83577	2.426000	0.82243	0.313000	0.20887	GGA		0.607	FHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012958.1	NM_004468		9	31	0	0	0	0	9	31				
PARS2	25973	broad.mit.edu	37	1	55224719	55224719	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:55224719C>T	ENST00000371279.3	-	2	198	c.116G>A	c.(115-117)cGc>cAc	p.R39H		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	39					gene expression (GO:0010467)|prolyl-tRNA aminoacylation (GO:0006433)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|proline-tRNA ligase activity (GO:0004827)			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	CAGCAGCAGGCGCCGCCCTCT	0.607																																						uc001cxy.2		NA																	0				ovary(2)	2						c.(115-117)CGC>CAC		prolyl-tRNA synthetase (mitochondrial)(putative)	L-Proline(DB00172)						33.0	33.0	33.0					1																	55224719		2203	4300	6503	SO:0001583	missense	25973				prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity	g.chr1:55224719C>T	AK025585	CCDS597.1	1p32.2	2011-07-01	2007-02-23		ENSG00000162396	ENSG00000162396	6.1.1.15	"""Aminoacyl tRNA synthetases / Class II"""	30563	protein-coding gene	gene with protein product	"""proline tRNA ligase 2, mitochondrial (putative)"""	612036				15779907	Standard	NM_152268		Approved	DKFZp727A071	uc001cxy.3	Q7L3T8	OTTHUMG00000009915	ENST00000371279.3:c.116G>A	1.37:g.55224719C>T	ENSP00000360327:p.Arg39His						p.R39H	NM_152268	NP_689481	Q7L3T8	SYPM_HUMAN			2	199	-			39					A8K0W4|Q9H6S5|Q9UFT1	Missense_Mutation	SNP	ENST00000371279.3	37	c.116G>A	CCDS597.1	.	.	.	.	.	.	.	.	.	.	C	7.644	0.681541	0.14907	.	.	ENSG00000162396	ENST00000371279	T	0.47528	0.84	5.1	1.06	0.20224	.	0.414217	0.25526	N	0.030071	T	0.40272	0.1110	M	0.69823	2.125	0.36904	D	0.890576	B	0.24317	0.101	B	0.14023	0.01	T	0.37009	-0.9724	10	0.72032	D	0.01	-10.2981	4.6579	0.12628	0.1524:0.6082:0.0:0.2394	.	39	Q7L3T8	SYPM_HUMAN	H	39	ENSP00000360327:R39H	ENSP00000360327:R39H	R	-	2	0	PARS2	54997307	1.000000	0.71417	0.987000	0.45799	0.006000	0.05464	2.032000	0.41127	0.169000	0.19679	-0.218000	0.12543	CGC		0.607	PARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027436.1	NM_152268		4	20	0	0	0	0	4	20				
SGIP1	84251	broad.mit.edu	37	1	67154866	67154866	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:67154866G>C	ENST00000371037.4	+	16	1428	c.1351G>C	c.(1351-1353)Gtt>Ctt	p.V451L	SGIP1_ENST00000371036.3_Missense_Mutation_p.V251L|SGIP1_ENST00000371039.1_Missense_Mutation_p.V252L|SGIP1_ENST00000371035.3_Missense_Mutation_p.V241L|SGIP1_ENST00000237247.6_Missense_Mutation_p.V482L	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	451	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CACTCCTTTGGTTCCTTGCAG	0.532																																						uc001dcr.2		NA																	0				ovary(3)	3						c.(1351-1353)GTT>CTT		SH3-domain GRB2-like (endophilin) interacting							255.0	254.0	254.0					1																	67154866		2203	4300	6503	SO:0001583	missense	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67154866G>C	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1351G>C	1.37:g.67154866G>C	ENSP00000360076:p.Val451Leu					SGIP1_uc010opd.1_Missense_Mutation_p.V51L|SGIP1_uc001dcs.2_Missense_Mutation_p.V51L|SGIP1_uc001dct.2_Missense_Mutation_p.V51L|SGIP1_uc009wat.2_Missense_Mutation_p.V245L	p.V451L	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN			16	1568	+			451			Pro-rich.		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.1351G>C	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	G	8.082	0.772601	0.16051	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037	T;T;T;T;T	0.02974	4.09;4.09;4.09;4.09;4.09	6.17	3.27	0.37495	.	0.641679	0.16693	N	0.203469	T	0.00784	0.0026	N	0.22421	0.69	0.20074	N	0.999937	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.0	T	0.47262	-0.9131	10	0.27082	T	0.32	0.1652	10.6864	0.45846	0.0674:0.2501:0.6826:0.0	.	481;51;241;451	A6NEV3;B3KR01;B7Z5H8;Q9BQI5	.;.;.;SGIP1_HUMAN	L	482;252;241;481;454;251;451	ENSP00000237247:V482L;ENSP00000360078:V252L;ENSP00000360074:V241L;ENSP00000360075:V251L;ENSP00000360076:V451L	ENSP00000237247:V482L	V	+	1	0	SGIP1	66927454	0.990000	0.36364	0.175000	0.22980	0.104000	0.19210	1.358000	0.34102	0.464000	0.27142	-0.127000	0.14921	GTT		0.532	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		87	159	0	0	0	0	87	159				
OVGP1	5016	broad.mit.edu	37	1	111957388	111957388	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:111957388T>C	ENST00000369732.3	-	11	1790	c.1735A>G	c.(1735-1737)Aga>Gga	p.R579G		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	579					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GATATGTTTCTGGAGGGGACA	0.522																																						uc001eba.2		NA																	0				ovary(4)|large_intestine(1)	5						c.(1735-1737)AGA>GGA		oviductal glycoprotein 1 precursor							98.0	104.0	102.0					1																	111957388		2203	4300	6503	SO:0001583	missense	5016				chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	g.chr1:111957388T>C	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1735A>G	1.37:g.111957388T>C	ENSP00000358747:p.Arg579Gly					OVGP1_uc001eaz.2_Missense_Mutation_p.R541G|OVGP1_uc010owb.1_Missense_Mutation_p.R227G	p.R579G	NM_002557	NP_002548	Q12889	OVGP1_HUMAN		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)	11	1791	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	579					A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	ENST00000369732.3	37	c.1735A>G	CCDS834.1	.	.	.	.	.	.	.	.	.	.	T	11.71	1.720789	0.30503	.	.	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000434331	T	0.03831	3.79	4.92	-9.83	0.00482	.	5.366220	0.01191	N	0.007337	T	0.00845	0.0028	N	0.22421	0.69	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.08055	0.001;0.003	T	0.38714	-0.9648	10	0.72032	D	0.01	1.1447	2.399	0.04397	0.0993:0.2158:0.297:0.3879	.	579;643	Q12889;Q59HH5	OVGP1_HUMAN;.	G	579;643;387	ENSP00000358747:R579G	ENSP00000358743:R643G	R	-	1	2	OVGP1	111758911	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.112000	0.03299	-2.125000	0.00821	-0.446000	0.05623	AGA		0.522	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		34	61	0	0	0	0	34	61				
TBX15	6913	broad.mit.edu	37	1	119474283	119474283	+	Silent	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:119474283G>A	ENST00000369429.3	-	2	387	c.378C>T	c.(376-378)ttC>ttT	p.F126F	TBX15_ENST00000207157.3_Silent_p.F20F			Q96SF7	TBX15_HUMAN	T-box 15	126					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CAATATCATGGAACCGCTTCC	0.507																																						uc001ehl.1		NA																	0				large_intestine(1)|pancreas(1)	2						c.(58-60)TTC>TTT		T-box 15							101.0	90.0	94.0					1																	119474283		2203	4300	6503	SO:0001819	synonymous_variant	6913					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:119474283G>A	AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"""T-boxes"""	11594	protein-coding gene	gene with protein product		604127	"""T-box 14"""	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.378C>T	1.37:g.119474283G>A							p.F20F	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)	2	375	-	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)	126			T-box.		Q08E76|Q5JT54|Q5T9S7	Silent	SNP	ENST00000369429.3	37	c.60C>T																																																																																					0.507	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000034351.1	NM_152380		19	32	0	0	0	0	19	32				
ZBTB7B	51043	broad.mit.edu	37	1	154987574	154987574	+	Silent	SNP	A	A	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:154987574A>C	ENST00000368426.3	+	3	575	c.438A>C	c.(436-438)ctA>ctC	p.L146L	ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000417934.2_Silent_p.L180L|ZBTB7B_ENST00000535420.1_Silent_p.L146L|ZBTB7B_ENST00000292176.2_Silent_p.L146L	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	146					cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCAGTGGGCTAGAAGCTCCCA	0.627																																						uc001fgk.3		NA																	0					0						c.(436-438)CTA>CTC		zinc finger and BTB domain containing 7B							43.0	45.0	44.0					1																	154987574		2203	4299	6502	SO:0001819	synonymous_variant	51043				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:154987574A>C	AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18668	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 15"""	607646	"""zinc finger protein 67 homolog (mouse)"""	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.438A>C	1.37:g.154987574A>C						ZBTB7B_uc009wpa.2_Silent_p.L146L|ZBTB7B_uc001fgj.3_Silent_p.L180L|ZBTB7B_uc010peq.1_Silent_p.L180L|ZBTB7B_uc001fgl.3_Silent_p.L146L	p.L146L	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	596	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		146					B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Silent	SNP	ENST00000368426.3	37	c.438A>C	CCDS1081.1																																																																																				0.627	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1	NM_015872		53	28	0	0	0	0	53	28				
KIFAP3	22920	broad.mit.edu	37	1	169923234	169923234	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:169923234C>T	ENST00000361580.2	-	19	2418	c.2191G>A	c.(2191-2193)Gaa>Aaa	p.E731K	KIFAP3_ENST00000540905.1_Missense_Mutation_p.E433K|KIFAP3_ENST00000367767.1_Missense_Mutation_p.E687K|KIFAP3_ENST00000367765.1_Missense_Mutation_p.E691K|KIFAP3_ENST00000538366.1_Missense_Mutation_p.E653K	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	731					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATGGCTCCTTCAGAGGCAATT	0.358																																						uc001ggv.2		NA																	0				skin(1)	1						c.(2191-2193)GAA>AAA		kinesin-associated protein 3							115.0	124.0	121.0					1																	169923234		2203	4300	6503	SO:0001583	missense	22920				blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	g.chr1:169923234C>T	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.2191G>A	1.37:g.169923234C>T	ENSP00000354560:p.Glu731Lys					KIFAP3_uc010plx.1_Missense_Mutation_p.E433K	p.E731K	NM_014970	NP_055785	Q92845	KIFA3_HUMAN			19	2462	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		731					B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Missense_Mutation	SNP	ENST00000361580.2	37	c.2191G>A	CCDS1288.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.957116	0.73902	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767;ENST00000540905;ENST00000538366	T;T;T;T;T	0.50548	0.77;0.77;0.77;0.76;0.74	5.3	5.3	0.74995	.	0.048477	0.85682	D	0.000000	T	0.18800	0.0451	N	0.14661	0.345	0.54753	D	0.999987	B	0.14438	0.01	B	0.10450	0.005	T	0.06807	-1.0806	9	.	.	.	-22.7291	18.9165	0.92507	0.0:1.0:0.0:0.0	.	731	Q92845	KIFA3_HUMAN	K	731;691;687;433;653	ENSP00000354560:E731K;ENSP00000356739:E691K;ENSP00000356741:E687K;ENSP00000442712:E433K;ENSP00000444622:E653K	.	E	-	1	0	KIFAP3	168189858	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.440000	0.66563	2.626000	0.88956	0.650000	0.86243	GAA		0.358	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	NM_014970		41	186	0	0	0	0	41	186				
GPR25	2848	broad.mit.edu	37	1	200843070	200843070	+	Missense_Mutation	SNP	C	C	G	rs200739616		TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:200843070C>G	ENST00000304244.2	+	1	988	c.905C>G	c.(904-906)gCc>gGc	p.A302G		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	302					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						AACAGCTGCGCCAACCCGCTC	0.731													C|||	1	0.000199681	0.0	0.0	5008	,	,		14975	0.001		0.0	False		,,,				2504	0.0					uc001gvn.1		NA																	0				ovary(1)	1						c.(904-906)GCC>GGC		G protein-coupled receptor 25							19.0	21.0	21.0					1																	200843070		2168	4246	6414	SO:0001583	missense	2848					integral to plasma membrane		g.chr1:200843070C>G	U91939	CCDS1405.1	1q32.1	2012-08-21			ENSG00000170128	ENSG00000170128		"""GPCR / Class A : Orphans"""	4480	protein-coding gene	gene with protein product		602174				9020062	Standard	NM_005298		Approved		uc001gvn.2	O00155	OTTHUMG00000035788	ENST00000304244.2:c.905C>G	1.37:g.200843070C>G	ENSP00000301917:p.Ala302Gly						p.A302G	NM_005298	NP_005289	O00155	GPR25_HUMAN			1	905	+			302			Helical; Name=7; (Potential).		A0AVJ5	Missense_Mutation	SNP	ENST00000304244.2	37	c.905C>G	CCDS1405.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	21.2	4.115396	0.77323	.	.	ENSG00000170128	ENST00000304244	T	0.38240	1.15	4.53	4.53	0.55603	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32719	U	0.005729	T	0.55529	0.1926	M	0.79258	2.445	0.33308	D	0.565703	D	0.58268	0.982	P	0.62089	0.898	T	0.70464	-0.4864	10	0.72032	D	0.01	-10.1271	10.517	0.44896	0.0:0.9028:0.0:0.0972	.	302	O00155	GPR25_HUMAN	G	302	ENSP00000301917:A302G	ENSP00000301917:A302G	A	+	2	0	GPR25	199109693	0.965000	0.33210	1.000000	0.80357	0.996000	0.88848	1.506000	0.35747	2.058000	0.61347	0.462000	0.41574	GCC		0.731	GPR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087056.1	NM_005298		9	88	0	0	0	0	9	88				
USH2A	7399	broad.mit.edu	37	1	215824103	215824103	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:215824103C>T	ENST00000307340.3	-	65	14560	c.14174G>A	c.(14173-14175)tGg>tAg	p.W4725*	USH2A_ENST00000366943.2_Nonsense_Mutation_p.W4725*	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4725	Fibronectin type-III 32. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCACCATGTCCAGCTACTGGG	0.522										HNSCC(13;0.011)																												uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(14173-14175)TGG>TAG		usherin isoform B							89.0	92.0	91.0					1																	215824103		2203	4300	6503	SO:0001587	stop_gained	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215824103C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.14174G>A	1.37:g.215824103C>T	ENSP00000305941:p.Trp4725*	HNSCC(13;0.011)					p.W4725*	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	65	14561	-			4725			Fibronectin type-III 32.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Nonsense_Mutation	SNP	ENST00000307340.3	37	c.14174G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	56	25.669462	0.99966	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	.	.	.	5.73	5.73	0.89815	.	0.000000	0.40302	U	0.001126	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	19.9023	0.96990	0.0:1.0:0.0:0.0	.	.	.	.	X	4725	.	ENSP00000305941:W4725X	W	-	2	0	USH2A	213890726	1.000000	0.71417	0.984000	0.44739	0.294000	0.27393	7.814000	0.86154	2.693000	0.91896	0.650000	0.86243	TGG		0.522	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		62	263	0	0	0	0	62	263				
USH2A	7399	broad.mit.edu	37	1	215940058	215940058	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:215940058G>A	ENST00000307340.3	-	56	11398	c.11012C>T	c.(11011-11013)cCt>cTt	p.P3671L	USH2A_ENST00000366943.2_Missense_Mutation_p.P3671L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3671	Fibronectin type-III 21. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACCTAGAAAAGGCTCGCTTGA	0.438										HNSCC(13;0.011)																												uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(11011-11013)CCT>CTT		usherin isoform B							128.0	123.0	125.0					1																	215940058		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215940058G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.11012C>T	1.37:g.215940058G>A	ENSP00000305941:p.Pro3671Leu	HNSCC(13;0.011)					p.P3671L	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	56	11399	-			3671			Extracellular (Potential).|Fibronectin type-III 21.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.11012C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.209835	0.79240	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.55234	0.53;0.53	5.71	5.71	0.89125	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.42682	U	0.000670	T	0.62478	0.2431	M	0.79805	2.47	0.80722	D	1	P	0.50066	0.931	B	0.44224	0.444	T	0.67612	-0.5626	10	0.49607	T	0.09	.	19.8516	0.96743	0.0:0.0:1.0:0.0	.	3671	O75445	USH2A_HUMAN	L	3671	ENSP00000305941:P3671L;ENSP00000355910:P3671L	ENSP00000305941:P3671L	P	-	2	0	USH2A	214006681	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	6.440000	0.73435	2.685000	0.91497	0.585000	0.79938	CCT		0.438	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		168	23	0	0	0	0	168	23				
UPF2	26019	broad.mit.edu	37	10	11994141	11994141	+	Missense_Mutation	SNP	C	C	A	rs530494975		TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr10:11994141C>A	ENST00000356352.2	-	14	3431	c.2958G>T	c.(2956-2958)aaG>aaT	p.K986N	UPF2_ENST00000397053.2_Missense_Mutation_p.K986N|UPF2_ENST00000357604.5_Missense_Mutation_p.K986N			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	986	MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				AGAGTTTGATCTTTGGTCTTA	0.368																																						uc001ila.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(2956-2958)AAG>AAT		UPF2 regulator of nonsense transcripts homolog							198.0	192.0	194.0					10																	11994141		2202	4300	6502	SO:0001583	missense	26019				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding	g.chr10:11994141C>A	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.2958G>T	10.37:g.11994141C>A	ENSP00000348708:p.Lys986Asn					UPF2_uc001ilb.2_Missense_Mutation_p.K986N|UPF2_uc001ilc.2_Missense_Mutation_p.K986N|UPF2_uc009xiz.1_Missense_Mutation_p.K986N	p.K986N	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN			14	3432	-		Renal(717;0.228)	986			MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	37	c.2958G>T	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.415581	0.62511	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000397053	T;T;T	0.26373	1.74;1.74;1.74	5.22	4.3	0.51218	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.30262	0.0759	M	0.70275	2.135	0.58432	D	0.999999	P	0.44260	0.83	B	0.43838	0.433	T	0.02654	-1.1128	10	0.37606	T	0.19	.	9.9049	0.41370	0.0:0.8462:0.0:0.1538	.	986	Q9HAU5	RENT2_HUMAN	N	986	ENSP00000348708:K986N;ENSP00000350221:K986N;ENSP00000380244:K986N	ENSP00000348708:K986N	K	-	3	2	UPF2	12034147	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.749000	0.55150	2.601000	0.87937	0.467000	0.42956	AAG		0.368	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			87	82	1	0	8.85e-50	1.03e-49	87	82				
UPF2	26019	broad.mit.edu	37	10	11994167	11994167	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr10:11994167C>T	ENST00000356352.2	-	14	3405	c.2932G>A	c.(2932-2934)Gat>Aat	p.D978N	UPF2_ENST00000397053.2_Missense_Mutation_p.D978N|UPF2_ENST00000357604.5_Missense_Mutation_p.D978N			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	978	MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TCTAGTGTATCACTGATCATG	0.353																																						uc001ila.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(2932-2934)GAT>AAT		UPF2 regulator of nonsense transcripts homolog							162.0	157.0	159.0					10																	11994167		2203	4300	6503	SO:0001583	missense	26019				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding	g.chr10:11994167C>T	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.2932G>A	10.37:g.11994167C>T	ENSP00000348708:p.Asp978Asn					UPF2_uc001ilb.2_Missense_Mutation_p.D978N|UPF2_uc001ilc.2_Missense_Mutation_p.D978N|UPF2_uc009xiz.1_Missense_Mutation_p.D978N	p.D978N	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN			14	3406	-		Renal(717;0.228)	978			MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	37	c.2932G>A	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	C	33	5.288524	0.95517	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000397053	T;T;T	0.23147	1.92;1.92;1.92	5.48	5.48	0.80851	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.052886	0.64402	D	0.000001	T	0.63402	0.2508	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.71738	-0.4502	10	0.66056	D	0.02	.	19.7018	0.96057	0.0:1.0:0.0:0.0	.	978	Q9HAU5	RENT2_HUMAN	N	978	ENSP00000348708:D978N;ENSP00000350221:D978N;ENSP00000380244:D978N	ENSP00000348708:D978N	D	-	1	0	UPF2	12034173	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.445000	0.80570	2.733000	0.93635	0.591000	0.81541	GAT		0.353	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			76	66	0	0	0	0	76	66				
CUBN	8029	broad.mit.edu	37	10	17113568	17113568	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr10:17113568G>A	ENST00000377833.4	-	19	2547	c.2482C>T	c.(2482-2484)Cgc>Tgc	p.R828C		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	828	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.				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)	AAAGGCGAGCGAATGACCCCT	0.413																																						uc001ioo.2		NA																	0				ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(2482-2484)CGC>TGC		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						65.0	67.0	66.0					10																	17113568		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.chr10:17113568G>A	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.2482C>T	10.37:g.17113568G>A	ENSP00000367064:p.Arg828Cys						p.R828C	NM_001081	NP_001072	O60494	CUBN_HUMAN			19	2534	-			828			CUB 4.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.2482C>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661567	0.67700	.	.	ENSG00000107611	ENST00000377833	T	0.18657	2.2	5.47	5.47	0.80525	CUB (5);	0.000000	0.41097	D	0.000954	T	0.47710	0.1460	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.63033	0.91	T	0.41945	-0.9480	10	0.45353	T	0.12	.	19.3782	0.94519	0.0:0.0:1.0:0.0	.	828	O60494	CUBN_HUMAN	C	828	ENSP00000367064:R828C	ENSP00000367064:R828C	R	-	1	0	CUBN	17153574	1.000000	0.71417	0.341000	0.25589	0.746000	0.42486	6.550000	0.73905	2.576000	0.86940	0.502000	0.49764	CGC		0.413	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		17	66	0	0	0	0	17	66				
NRP1	8829	broad.mit.edu	37	10	33619748	33619748	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr10:33619748G>A	ENST00000265371.4	-	3	661	c.136C>T	c.(136-138)Cat>Tat	p.H46Y	NRP1_ENST00000374867.2_Missense_Mutation_p.H46Y|NRP1_ENST00000374822.4_Missense_Mutation_p.H46Y|NRP1_ENST00000374821.5_Missense_Mutation_p.H46Y|NRP1_ENST00000374823.5_Missense_Mutation_p.H46Y|NRP1_ENST00000374875.1_5'UTR|NRP1_ENST00000432372.2_Missense_Mutation_p.H46Y|NRP1_ENST00000395995.1_Missense_Mutation_p.H46Y|NRP1_ENST00000374816.3_Missense_Mutation_p.H46Y			O14786	NRP1_HUMAN	neuropilin 1	46	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TGATAAGAATGAGGATAACCA	0.418																																					Melanoma(104;886 1489 44640 45944 51153)	uc001iwx.3		NA																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(136-138)CAT>TAT		neuropilin 1 isoform a	Palifermin(DB00039)|Pegaptanib(DB04895)						121.0	122.0	121.0					10																	33619748		2203	4300	6503	SO:0001583	missense	8829				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity	g.chr10:33619748G>A	AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"""CD molecules"""	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.136C>T	10.37:g.33619748G>A	ENSP00000265371:p.His46Tyr					NRP1_uc001iwv.3_Missense_Mutation_p.H46Y|NRP1_uc009xlz.2_Missense_Mutation_p.H46Y|NRP1_uc001iww.3_5'UTR|NRP1_uc001iwy.3_Missense_Mutation_p.H46Y|NRP1_uc001iwz.2_Missense_Mutation_p.H46Y|NRP1_uc001ixa.2_Missense_Mutation_p.H46Y|NRP1_uc001ixb.1_Missense_Mutation_p.H46Y|NRP1_uc001ixc.1_Missense_Mutation_p.H46Y	p.H46Y	NM_003873	NP_003864	O14786	NRP1_HUMAN			2	659	-			46			CUB 1.|Extracellular (Potential).		B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	ENST00000265371.4	37	c.136C>T	CCDS7177.1	.	.	.	.	.	.	.	.	.	.	G	0.039	-1.291299	0.01375	.	.	ENSG00000099250	ENST00000265371;ENST00000374867;ENST00000395995;ENST00000374822;ENST00000374821;ENST00000374823;ENST00000374816	T;T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37;1.37	5.99	1.92	0.25849	CUB (5);	0.711573	0.15073	N	0.282090	T	0.23806	0.0576	N	0.12887	0.27	0.09310	N	1	B;P;P;B;B;B;B;B	0.39157	0.371;0.662;0.662;0.165;0.0;0.0;0.371;0.162	B;P;P;B;B;B;B;B	0.44561	0.275;0.453;0.453;0.075;0.001;0.002;0.275;0.187	T	0.10636	-1.0621	10	0.39692	T	0.17	-9.6882	7.2451	0.26117	0.1119:0.0:0.5466:0.3415	.	46;46;46;46;46;46;46;46	A8K9V7;E7EX60;Q5T7F0;Q5T7F1;O14786-2;Q68DN3;O14786;E9PEP6	.;.;.;.;.;.;NRP1_HUMAN;.	Y	46	ENSP00000265371:H46Y;ENSP00000364001:H46Y;ENSP00000379317:H46Y;ENSP00000363955:H46Y;ENSP00000363954:H46Y;ENSP00000363956:H46Y;ENSP00000363949:H46Y	ENSP00000265371:H46Y	H	-	1	0	NRP1	33659754	0.000000	0.05858	0.976000	0.42696	0.997000	0.91878	0.074000	0.14662	0.431000	0.26258	0.655000	0.94253	CAT		0.418	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2			24	30	0	0	0	0	24	30				
ANKRD30A	91074	broad.mit.edu	37	10	37451602	37451602	+	Missense_Mutation	SNP	C	C	G	rs557264466		TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr10:37451602C>G	ENST00000602533.1	+	16	1857	c.1758C>G	c.(1756-1758)ttC>ttG	p.F586L	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.F586L|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.F586L			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	642					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F586L(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CATCTGCCTTCGAGGTATTTA	0.328																																						uc001iza.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|breast(1)|skin(1)	9						c.(1756-1758)TTC>TTG		ankyrin repeat domain 30A							165.0	138.0	146.0					10																	37451602		1811	4065	5876	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37451602C>G	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1758C>G	10.37:g.37451602C>G	ENSP00000473551:p.Phe586Leu						p.F586L	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			16	1857	+			642					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.1758C>G		.	.	.	.	.	.	.	.	.	.	.	0.007	-2.009590	0.00426	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.04654	3.58;3.58	0.731	-0.577	0.11727	.	.	.	.	.	T	0.01627	0.0052	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46582	-0.9181	9	0.02654	T	1	.	4.4238	0.11493	0.0:0.4288:0.5712:0.0	.	642	Q9BXX3	AN30A_HUMAN	L	586	ENSP00000354432:F586L;ENSP00000363792:F586L	ENSP00000354432:F586L	F	+	3	2	ANKRD30A	37491608	0.011000	0.17503	0.006000	0.13384	0.194000	0.23727	-0.860000	0.04272	-0.175000	0.10725	0.089000	0.15464	TTC		0.328	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		47	65	0	0	0	0	47	65				
BICC1	80114	broad.mit.edu	37	10	60559980	60559980	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr10:60559980A>G	ENST00000373886.3	+	13	1756	c.1752A>G	c.(1750-1752)atA>atG	p.I584M	BICC1_ENST00000263103.1_Missense_Mutation_p.I210M	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	584					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						ATGGTGCAATATCCACTTCAT	0.388																																						uc001jki.1		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(1750-1752)ATA>ATG		bicaudal C homolog 1							37.0	35.0	36.0					10																	60559980		2203	4300	6503	SO:0001583	missense	80114				multicellular organismal development		RNA binding	g.chr10:60559980A>G	AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.1752A>G	10.37:g.60559980A>G	ENSP00000362993:p.Ile584Met					BICC1_uc001jkj.1_Missense_Mutation_p.I225M	p.I584M	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN			13	1752	+			584						Missense_Mutation	SNP	ENST00000373886.3	37	c.1752A>G	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	A	12.46	1.944128	0.34283	.	.	ENSG00000122870	ENST00000373886;ENST00000263103	T;T	0.49432	1.63;0.78	6.02	3.68	0.42216	.	0.374756	0.34725	N	0.003731	T	0.28928	0.0718	N	0.22421	0.69	0.23848	N	0.996676	P;B	0.43477	0.808;0.097	B;B	0.39876	0.312;0.049	T	0.08351	-1.0726	10	0.30078	T	0.28	-13.2223	5.7533	0.18158	0.7283:0.0:0.145:0.1267	.	504;584	E7EU62;Q9H694	.;BICC1_HUMAN	M	584;210	ENSP00000362993:I584M;ENSP00000263103:I210M	ENSP00000263103:I210M	I	+	3	3	BICC1	60229986	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.891000	0.48617	0.516000	0.28340	0.533000	0.62120	ATA		0.388	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044		15	7	0	0	0	0	15	7				
PIK3AP1	118788	broad.mit.edu	37	10	98469731	98469731	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr10:98469731C>T	ENST00000339364.5	-	2	142	c.23G>A	c.(22-24)aGa>aAa	p.R8K		NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	8					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GTCGCATCCTCTGGGCACCCC	0.592																																						uc001kmq.2		NA																	0				upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5						c.(22-24)AGA>AAA		phosphoinositide-3-kinase adaptor protein 1							52.0	44.0	47.0					10																	98469731		2160	4215	6375	SO:0001583	missense	118788					cytoplasm|plasma membrane		g.chr10:98469731C>T	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.23G>A	10.37:g.98469731C>T	ENSP00000339826:p.Arg8Lys						p.R8K	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)	2	151	-		Colorectal(252;0.0442)	8					Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Missense_Mutation	SNP	ENST00000339364.5	37	c.23G>A	CCDS31259.1	.	.	.	.	.	.	.	.	.	.	C	0.651	-0.809650	0.02798	.	.	ENSG00000155629	ENST00000339364	T	0.09073	3.02	4.73	0.768	0.18487	.	1.014930	0.07896	N	0.971902	T	0.04952	0.0133	N	0.14661	0.345	0.09310	N	1	B	0.15473	0.013	B	0.13407	0.009	T	0.43507	-0.9387	10	0.37606	T	0.19	0.9797	4.5623	0.12166	0.1562:0.5886:0.0:0.2552	.	8	Q6ZUJ8	BCAP_HUMAN	K	8	ENSP00000339826:R8K	ENSP00000339826:R8K	R	-	2	0	PIK3AP1	98459721	0.001000	0.12720	0.000000	0.03702	0.013000	0.08279	1.134000	0.31442	0.278000	0.22164	-0.136000	0.14681	AGA		0.592	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309		13	51	0	0	0	0	13	51				
TECTB	6975	broad.mit.edu	37	10	114044408	114044408	+	Silent	SNP	C	C	T	rs146576556	byFrequency	TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr10:114044408C>T	ENST00000369422.3	+	2	192	c.192C>T	c.(190-192)caC>caT	p.H64H		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	64	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		ATGGGGTCCACGAAGGAGGTT	0.488																																						uc001kzr.1		NA																	0					0						c.(190-192)CAC>CAT		tectorin beta precursor		C		0,4406		0,0,2203	88.0	79.0	82.0		192	-7.1	0.9	10	dbSNP_134	82	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	TECTB	NM_058222.1		0,4,6499	TT,TC,CC		0.0465,0.0,0.0308		64/330	114044408	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	6975					anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr10:114044408C>T	AF312827	CCDS7571.1	10q25-q26	2005-06-09			ENSG00000119913	ENSG00000119913			11721	protein-coding gene	gene with protein product		602653				9079715	Standard	NM_058222		Approved		uc001kzr.1	Q96PL2	OTTHUMG00000019056	ENST00000369422.3:c.192C>T	10.37:g.114044408C>T							p.H64H	NM_058222	NP_478129	Q96PL2	TECTB_HUMAN		Epithelial(162;0.0143)|all cancers(201;0.0242)	2	192	+		Colorectal(252;0.198)	64			ZP.		Q5VW53	Silent	SNP	ENST00000369422.3	37	c.192C>T	CCDS7571.1																																																																																				0.488	TECTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050381.1	NM_058222		25	14	0	0	0	0	25	14				
PSTK	118672	broad.mit.edu	37	10	124742535	124742535	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr10:124742535G>A	ENST00000368887.3	+	2	943	c.503G>A	c.(502-504)cGg>cAg	p.R168Q	PSTK_ENST00000405485.1_Missense_Mutation_p.R168Q|PSTK_ENST00000497219.1_3'UTR	NM_153336.2	NP_699167.2	Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	168					selenocysteine incorporation (GO:0001514)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|tRNA binding (GO:0000049)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2)	13		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		CAGCTGGCTCGGAAATGTAAT	0.313																																						uc001lgy.1		NA																	0				liver(1)	1						c.(502-504)CGG>CAG		phosphoseryl-tRNA kinase							74.0	80.0	78.0					10																	124742535		2203	4300	6503	SO:0001583	missense	118672						ATP binding|kinase activity	g.chr10:124742535G>A	AK127173	CCDS7633.1	10q26.13	2007-04-17	2007-04-17	2007-04-17	ENSG00000179988	ENSG00000179988			28578	protein-coding gene	gene with protein product		611310	"""chromosome 10 open reading frame 89"""	C10orf89		15317934	Standard	NM_153336		Approved	MGC35392	uc001lgy.1	Q8IV42	OTTHUMG00000019191	ENST00000368887.3:c.503G>A	10.37:g.124742535G>A	ENSP00000357882:p.Arg168Gln						p.R168Q	NM_153336	NP_699167	Q8IV42	PSTK_HUMAN		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)	2	943	+		all_neural(114;0.169)|Glioma(114;0.222)	168					Q6ZSS9	Missense_Mutation	SNP	ENST00000368887.3	37	c.503G>A	CCDS7633.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.6|22.6	4.308297|4.308297	0.81247|0.81247	.|.	.|.	ENSG00000179988|ENSG00000179988	ENST00000406217|ENST00000368887;ENST00000405485	.|T;T	.|0.36699	.|1.24;1.24	5.44|5.44	4.54|4.54	0.55810|0.55810	.|.	.|0.061261	.|0.64402	.|D	.|0.000006	T|T	0.58323|0.58323	0.2114|0.2114	M|M	0.85197|0.85197	2.74|2.74	0.36866|0.36866	D|D	0.888676|0.888676	.|D	.|0.69078	.|0.997	.|P	.|0.60949	.|0.881	T|T	0.69359|0.69359	-0.5166|-0.5166	5|10	.|0.52906	.|T	.|0.07	-21.4139|-21.4139	11.5368|11.5368	0.50641|0.50641	0.0849:0.0:0.9151:0.0|0.0849:0.0:0.9151:0.0	.|.	.|168	.|Q8IV42	.|PSTK_HUMAN	R|Q	169|168	.|ENSP00000357882:R168Q;ENSP00000384764:R168Q	.|ENSP00000357882:R168Q	G|R	+|+	1|2	0|0	PSTK|PSTK	124732525|124732525	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.734000|7.734000	0.84928|0.84928	1.283000|1.283000	0.44513|0.44513	0.609000|0.609000	0.83330|0.83330	GGA|CGG		0.313	PSTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050811.1	NM_153336		58	61	0	0	0	0	58	61				
GPR26	2849	broad.mit.edu	37	10	125426287	125426287	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr10:125426287G>A	ENST00000284674.1	+	1	417	c.364G>A	c.(364-366)Gac>Aac	p.D122N		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	122					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				GCGCCTCCGCGACGCGGCGCT	0.701																																						uc001lhh.2		NA																	0				skin(1)	1						c.(364-366)GAC>AAC		G protein-coupled receptor 26							10.0	11.0	10.0					10																	125426287		2181	4269	6450	SO:0001583	missense	2849				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:125426287G>A		CCDS7636.1	10q26.2-q26.3	2012-08-21			ENSG00000154478	ENSG00000154478		"""GPCR / Class A : Orphans"""	4481	protein-coding gene	gene with protein product		604847					Standard	NM_153442		Approved		uc001lhh.3	Q8NDV2	OTTHUMG00000019204	ENST00000284674.1:c.364G>A	10.37:g.125426287G>A	ENSP00000284674:p.Asp122Asn						p.D122N	NM_153442	NP_703143	Q8NDV2	GPR26_HUMAN			1	417	+		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)	122			Cytoplasmic (Potential).		Q2M2E2	Missense_Mutation	SNP	ENST00000284674.1	37	c.364G>A	CCDS7636.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.724724	0.68959	.	.	ENSG00000154478	ENST00000284674	T	0.36157	1.27	4.11	4.11	0.48088	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.27731	0.0682	L	0.48174	1.505	0.80722	D	1	P	0.45011	0.848	B	0.30105	0.111	T	0.22695	-1.0209	10	0.38643	T	0.18	-25.8253	16.5501	0.84470	0.0:0.0:1.0:0.0	.	122	Q8NDV2	GPR26_HUMAN	N	122	ENSP00000284674:D122N	ENSP00000284674:D122N	D	+	1	0	GPR26	125416277	1.000000	0.71417	0.999000	0.59377	0.915000	0.54546	9.508000	0.98000	2.125000	0.65367	0.655000	0.94253	GAC		0.701	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050850.1			3	6	0	0	0	0	3	6				
PSMC3	5702	broad.mit.edu	37	11	47444246	47444246	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr11:47444246G>C	ENST00000298852.3	-	8	920	c.763C>G	c.(763-765)Cag>Gag	p.Q255E	PSMC3_ENST00000602866.1_Missense_Mutation_p.Q239E|PSMC3_ENST00000530912.1_Missense_Mutation_p.Q213E	NM_002804.4	NP_002795.2	P17980	PRS6A_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 3	255					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of RNA biosynthetic process (GO:2001141)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TGCACCAGCTGGGGGCCAGCC	0.547																																						uc001nfh.2		NA																	0				ovary(4)	4						c.(763-765)CAG>GAG		proteasome 26S ATPase subunit 3							72.0	71.0	71.0					11																	47444246		2201	4298	6499	SO:0001583	missense	5702				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity	g.chr11:47444246G>C	M34079	CCDS7935.1	11p11.2	2010-04-21			ENSG00000165916	ENSG00000165916		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9549	protein-coding gene	gene with protein product		186852				9048938, 9473509	Standard	NM_002804		Approved	TBP1, TBP-1	uc001nfh.2	P17980	OTTHUMG00000167692	ENST00000298852.3:c.763C>G	11.37:g.47444246G>C	ENSP00000298852:p.Gln255Glu					PSMC3_uc009ylr.1_Missense_Mutation_p.Q213E	p.Q255E	NM_002804	NP_002795	P17980	PRS6A_HUMAN		Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)	8	957	-			255					B2R8V1|Q3B757|Q3B865|Q53HU5|Q6GPG8|Q6IBS1|Q96HD3	Missense_Mutation	SNP	ENST00000298852.3	37	c.763C>G	CCDS7935.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.313322	0.81358	.	.	ENSG00000165916	ENST00000298852;ENST00000530912;ENST00000524447;ENST00000531051;ENST00000530887;ENST00000530651	D;D	0.93247	-3.19;-3.19	4.98	4.98	0.66077	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.85856	0.5794	N	0.00683	-1.26	0.80722	D	1	B;P	0.48294	0.053;0.908	B;P	0.54060	0.129;0.741	D	0.86593	0.1861	10	0.14252	T	0.57	-32.2106	18.2683	0.90059	0.0:0.0:1.0:0.0	.	213;255	E9PM69;P17980	.;PRS6A_HUMAN	E	255;213;199;199;220;220	ENSP00000298852:Q255E;ENSP00000433097:Q213E	ENSP00000298852:Q255E	Q	-	1	0	PSMC3	47400822	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	7.904000	0.87408	2.314000	0.78098	0.561000	0.74099	CAG		0.547	PSMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395660.2	NM_002804		29	110	0	0	0	0	29	110				
OR8J3	81168	broad.mit.edu	37	11	55905136	55905136	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr11:55905136C>T	ENST00000301529.1	-	1	58	c.59G>A	c.(58-60)tGt>tAt	p.C20Y		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GAGCTCTGGACAGCTAGAGAC	0.478																																						uc010riz.1		NA																	0				skin(2)	2						c.(58-60)TGT>TAT		olfactory receptor, family 8, subfamily J,							111.0	112.0	111.0					11																	55905136		2201	4296	6497	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55905136C>T		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.59G>A	11.37:g.55905136C>T	ENSP00000301529:p.Cys20Tyr						p.C20Y	NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN			1	59	-	Esophageal squamous(21;0.00693)		20			Extracellular (Potential).		Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.59G>A	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	C	5.655	0.305508	0.10678	.	.	ENSG00000167822	ENST00000301529	T	0.01076	5.37	3.17	-5.69	0.02428	.	1.119980	0.06596	N	0.752875	T	0.00524	0.0017	N	0.01779	-0.725	0.09310	N	1	B	0.06786	0.001	B	0.13407	0.009	T	0.48581	-0.9023	10	0.39692	T	0.17	.	3.3171	0.07036	0.0967:0.2564:0.3943:0.2526	.	20	Q8NGG0	OR8J3_HUMAN	Y	20	ENSP00000301529:C20Y	ENSP00000301529:C20Y	C	-	2	0	OR8J3	55661712	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	-3.187000	0.00566	-0.752000	0.04728	-0.914000	0.02751	TGT		0.478	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		33	93	0	0	0	0	33	93				
OR8K5	219453	broad.mit.edu	37	11	55927085	55927085	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr11:55927085C>A	ENST00000313447.1	-	1	708	c.709G>T	c.(709-711)Gct>Tct	p.A237S		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A237T(1)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GTGGAGAAAGCCTTTTTCCTG	0.408																																						uc010rja.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(709-711)GCT>TCT		olfactory receptor, family 8, subfamily K,							85.0	80.0	82.0					11																	55927085		2201	4296	6497	SO:0001583	missense	219453				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55927085C>A	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"""GPCR / Class A : Olfactory receptors"""	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.709G>T	11.37:g.55927085C>A	ENSP00000323853:p.Ala237Ser						p.A237S	NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN			1	709	-	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)	237			Cytoplasmic (Potential).		Q6IFB5	Missense_Mutation	SNP	ENST00000313447.1	37	c.709G>T	CCDS31521.1	.	.	.	.	.	.	.	.	.	.	c	11.86	1.765018	0.31228	.	.	ENSG00000181752	ENST00000313447	T	0.00359	7.87	3.98	3.06	0.35304	GPCR, rhodopsin-like superfamily (1);	0.351885	0.24431	N	0.038600	T	0.00496	0.0016	M	0.93939	3.475	0.28586	N	0.909891	P	0.36768	0.569	B	0.35770	0.21	T	0.03587	-1.1022	10	0.87932	D	0	.	11.6173	0.51096	0.1805:0.8195:0.0:0.0	.	237	Q8NH50	OR8K5_HUMAN	S	237	ENSP00000323853:A237S	ENSP00000323853:A237S	A	-	1	0	OR8K5	55683661	0.994000	0.37717	0.954000	0.39281	0.155000	0.21991	3.064000	0.49986	1.019000	0.39547	-0.377000	0.06932	GCT		0.408	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		13	33	1	0	1.58e-08	1.75e-08	13	33				
OR5M9	390162	broad.mit.edu	37	11	56230773	56230773	+	Silent	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr11:56230773G>A	ENST00000279791.1	-	1	104	c.105C>T	c.(103-105)atC>atT	p.I35I		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					CCAACAGAGTGATCATGTAAA	0.443																																						uc010rjj.1		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(103-105)ATC>ATT		olfactory receptor, family 5, subfamily M,							59.0	58.0	58.0					11																	56230773		2201	4296	6497	SO:0001819	synonymous_variant	390162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56230773G>A	AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"""GPCR / Class A : Olfactory receptors"""	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.105C>T	11.37:g.56230773G>A							p.I35I	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN			1	105	-	Esophageal squamous(21;0.00448)		35			Helical; Name=1; (Potential).		Q6IEW5|Q96RB9	Silent	SNP	ENST00000279791.1	37	c.105C>T	CCDS31531.1																																																																																				0.443	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743		15	27	0	0	0	0	15	27				
CCDC87	55231	broad.mit.edu	37	11	66359037	66359037	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr11:66359037C>G	ENST00000333861.3	-	1	1517	c.1450G>C	c.(1450-1452)Gat>Cat	p.D484H	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	484					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						ACAAAGTTATCAATATCCATT	0.463																																						uc001oiq.3		NA																	0				ovary(1)|skin(1)	2						c.(1450-1452)GAT>CAT		coiled-coil domain containing 87							103.0	103.0	103.0					11																	66359037		2200	4295	6495	SO:0001583	missense	55231							g.chr11:66359037C>G	BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.1450G>C	11.37:g.66359037C>G	ENSP00000328487:p.Asp484His					CCS_uc001oir.2_5'Flank	p.D484H	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN			1	1518	-			484					Q8NE76	Missense_Mutation	SNP	ENST00000333861.3	37	c.1450G>C	CCDS8145.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.446746	0.25987	.	.	ENSG00000182791	ENST00000333861	T	0.32988	1.43	5.3	3.42	0.39159	.	0.376094	0.19782	N	0.106186	T	0.30008	0.0751	M	0.68317	2.08	0.09310	N	1	B	0.15141	0.012	B	0.16722	0.016	T	0.26087	-1.0113	10	0.51188	T	0.08	.	7.0813	0.25234	0.0:0.7203:0.1873:0.0924	.	484	Q9NVE4	CCD87_HUMAN	H	484	ENSP00000328487:D484H	ENSP00000328487:D484H	D	-	1	0	CCDC87	66115613	0.000000	0.05858	0.001000	0.08648	0.258000	0.26162	-0.357000	0.07651	0.794000	0.33899	0.563000	0.77884	GAT		0.463	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219		29	84	0	0	0	0	29	84				
LRP5	4041	broad.mit.edu	37	11	68201226	68201226	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr11:68201226G>A	ENST00000294304.7	+	18	4026	c.3920G>A	c.(3919-3921)cGg>cAg	p.R1307Q		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1307	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|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 apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCCTGCGCGCGGGGTCAGTGT	0.711																																						uc001ont.2		NA																	0				lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						c.(3919-3921)CGG>CAG		low density lipoprotein receptor-related protein							55.0	57.0	56.0					11																	68201226		2200	4292	6492	SO:0001583	missense	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68201226G>A	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.3920G>A	11.37:g.68201226G>A	ENSP00000294304:p.Arg1307Gln					LRP5_uc009ysg.2_Missense_Mutation_p.R717Q	p.R1307Q	NM_002335	NP_002326	O75197	LRP5_HUMAN			18	3995	+			1307			LDL-receptor class A 2.|Extracellular (Potential).		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.3920G>A	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.401787	0.62288	.	.	ENSG00000162337	ENST00000294304	D	0.87571	-2.27	4.39	3.39	0.38822	.	0.179483	0.24836	U	0.035210	T	0.74673	0.3747	N	0.17800	0.525	0.34323	D	0.686799	P;P	0.40250	0.709;0.709	B;B	0.39840	0.311;0.311	T	0.78633	-0.2128	10	0.56958	D	0.05	.	3.5357	0.07793	0.3572:0.0:0.6428:0.0	.	1307;1307	Q9UES7;O75197	.;LRP5_HUMAN	Q	1307	ENSP00000294304:R1307Q	ENSP00000294304:R1307Q	R	+	2	0	LRP5	67957802	0.981000	0.34729	0.996000	0.52242	0.976000	0.68499	2.361000	0.44160	2.298000	0.77334	0.456000	0.33151	CGG		0.711	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		26	27	0	0	0	0	26	27				
DDI1	414301	broad.mit.edu	37	11	103908425	103908425	+	Missense_Mutation	SNP	G	G	A	rs142985363		TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr11:103908425G>A	ENST00000302259.3	+	1	1118	c.875G>A	c.(874-876)gGa>gAa	p.G292E	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	292							aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GTTGCTAAAGGAGTGGGCACA	0.512																																						uc001phr.2		NA																	0				large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5						c.(874-876)GGA>GAA		DDI1, DNA-damage inducible 1, homolog 1		G	GLU/GLY,,	0,4404		0,0,2202	115.0	107.0	110.0		875,,	5.2	0.4	11	dbSNP_134	110	1,8597	1.2+/-3.3	0,1,4298	no	missense,intron,intron	PDGFD,DDI1	NM_001001711.2,NM_025208.4,NM_033135.3	98,,	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,,	292/397,,	103908425	1,13001	2202	4299	6501	SO:0001583	missense	414301				proteolysis		aspartic-type endopeptidase activity	g.chr11:103908425G>A		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.875G>A	11.37:g.103908425G>A	ENSP00000302805:p.Gly292Glu					PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	p.G292E	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)	1	1118	+		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	292					Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	ENST00000302259.3	37	c.875G>A	CCDS31660.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.281046	0.59758	0.0	1.16E-4	ENSG00000170967	ENST00000302259	T	0.66638	-0.22	5.21	5.21	0.72293	Peptidase aspartic (1);Peptidase aspartic, eukaryotic predicted (1);Peptidase aspartic, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.86339	0.5909	M	0.93939	3.475	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.89237	0.3581	10	0.87932	D	0	-14.2125	16.6709	0.85266	0.0:0.0:1.0:0.0	.	292	Q8WTU0	DDI1_HUMAN	E	292	ENSP00000302805:G292E	ENSP00000302805:G292E	G	+	2	0	DDI1	103413635	1.000000	0.71417	0.375000	0.26029	0.167000	0.22549	8.821000	0.92009	2.884000	0.98904	0.655000	0.94253	GGA		0.512	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711		14	25	0	0	0	0	14	25				
SIK2	23235	broad.mit.edu	37	11	111571713	111571713	+	Silent	SNP	A	A	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr11:111571713A>G	ENST00000304987.3	+	5	755	c.582A>G	c.(580-582)gaA>gaG	p.E194E		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	194	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						AGCAGTATGAAGGACCACAGC	0.468																																						uc001plt.2		NA																	0				central_nervous_system(2)|skin(1)	3						c.(580-582)GAA>GAG		SNF1-like kinase 2							75.0	77.0	77.0					11																	111571713		2201	4297	6498	SO:0001819	synonymous_variant	23235				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:111571713A>G	AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.582A>G	11.37:g.111571713A>G							p.E194E	NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN			5	700	+			194			Protein kinase.		A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Silent	SNP	ENST00000304987.3	37	c.582A>G	CCDS8347.1																																																																																				0.468	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191		8	27	0	0	0	0	8	27				
UBE4A	9354	broad.mit.edu	37	11	118260439	118260439	+	Splice_Site	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr11:118260439G>A	ENST00000431736.2	+	17	2680		c.e17-1		UBE4A_ENST00000545354.1_Splice_Site|UBE4A_ENST00000252108.3_Splice_Site					ubiquitination factor E4A											autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TTCTTTTCCAGAGATCAAGTC	0.433																																						uc001psw.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	5						c.e17-1		ubiquitination factor E4A							101.0	101.0	101.0					11																	118260439		2200	4296	6496	SO:0001630	splice_region_variant	9354				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding	g.chr11:118260439G>A	D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"""U-box domain containing"""	12499	protein-coding gene	gene with protein product		603753	"""ubiquitination factor E4A (homologous to yeast UFD2)"", ""ubiquitination factor E4A (UFD2 homolog, yeast)"""			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.2609-1G>A	11.37:g.118260439G>A						UBE4A_uc001psv.2_Splice_Site_p.E870_splice	p.E863_splice	NM_004788	NP_004779	Q14139	UBE4A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	17	2717	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)							Splice_Site	SNP	ENST00000431736.2	37	c.2588_splice	CCDS8396.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.513283	0.85389	.	.	ENSG00000110344	ENST00000252108;ENST00000431736;ENST00000545354	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8311	0.96636	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UBE4A	117765649	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	9.869000	0.99810	2.681000	0.91329	0.650000	0.86243	.		0.433	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	NM_004788	Intron	25	84	0	0	0	0	25	84				
ARCN1	372	broad.mit.edu	37	11	118468432	118468432	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr11:118468432G>A	ENST00000264028.4	+	9	1347	c.1252G>A	c.(1252-1254)Ggc>Agc	p.G418S	ARCN1_ENST00000359415.4_Missense_Mutation_p.G459S|ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000392859.3_Missense_Mutation_p.G330S	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1	418	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer maturation (GO:0021691)|COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pigmentation (GO:0043473)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	clathrin adaptor complex (GO:0030131)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GTCTGGTGTCGGCGCGCCTGT	0.493																																						uc001ptq.2		NA																	0					0						c.(1252-1254)GGC>AGC		archain isoform 1							102.0	83.0	89.0					11																	118468432		2200	4295	6495	SO:0001583	missense	372				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol		g.chr11:118468432G>A	X81197	CCDS8400.1, CCDS44749.1	11q23.3	2010-04-21	2003-01-29		ENSG00000095139	ENSG00000095139			649	protein-coding gene	gene with protein product		600820	"""coatomer protein complex, subunit delta"""	COPD		7782067, 8854871	Standard	NM_001655		Approved		uc001ptq.3	P48444	OTTHUMG00000166340	ENST00000264028.4:c.1252G>A	11.37:g.118468432G>A	ENSP00000264028:p.Gly418Ser					ARCN1_uc009zah.2_Intron|ARCN1_uc010ryg.1_Missense_Mutation_p.G330S|ARCN1_uc009zag.2_Missense_Mutation_p.G459S	p.G418S	NM_001655	NP_001646	P48444	COPD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	9	1413	+	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)	418			MHD.		B4E1X2|E9PEU4|Q52M80	Missense_Mutation	SNP	ENST00000264028.4	37	c.1252G>A	CCDS8400.1	.	.	.	.	.	.	.	.	.	.	G	36	5.883105	0.97062	.	.	ENSG00000095139	ENST00000392859;ENST00000359415;ENST00000264028	T;T;T	0.23950	1.88;1.88;1.88	5.76	5.76	0.90799	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.50222	0.1603	M	0.77820	2.39	0.80722	D	1	D;D;P	0.89917	1.0;0.99;0.933	D;P;B	0.74348	0.983;0.659;0.304	T	0.46062	-0.9218	10	0.06757	T	0.87	1.0844	19.9772	0.97314	0.0:0.0:1.0:0.0	.	330;459;418	E9PEU4;B0YIW6;P48444	.;.;COPD_HUMAN	S	330;459;418	ENSP00000376599:G330S;ENSP00000352385:G459S;ENSP00000264028:G418S	ENSP00000264028:G418S	G	+	1	0	ARCN1	117973642	1.000000	0.71417	0.898000	0.35279	0.283000	0.27025	9.417000	0.97391	2.724000	0.93272	0.563000	0.77884	GGC		0.493	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389278.1			4	22	0	0	0	0	4	22				
CRTAM	56253	broad.mit.edu	37	11	122724650	122724650	+	Splice_Site	SNP	G	G	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr11:122724650G>T	ENST00000227348.4	+	4	393		c.e4-1			NM_019604.2	NP_062550.2			cytotoxic and regulatory T cell molecule											breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		TTTTGTTCTAGCAACTCCTTT	0.398																																						uc001pyj.2		NA																	0				ovary(1)	1						c.e4-1		class-I MHC-restricted T cell associated							74.0	75.0	74.0					11																	122724650		2202	4299	6501	SO:0001630	splice_region_variant	56253				cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding	g.chr11:122724650G>T	AF001622	CCDS8437.1	11q24.1	2013-01-11			ENSG00000109943	ENSG00000109943		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24313	protein-coding gene	gene with protein product	"""class I MHC restricted T cell associated molecule"""	612597				10811014, 16300832	Standard	NM_019604		Approved	CD355	uc001pyj.3	O95727	OTTHUMG00000166026	ENST00000227348.4:c.347-1G>T	11.37:g.122724650G>T							p.A116_splice	NM_019604	NP_062550	O95727	CRTAM_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)	4	347	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)							Splice_Site	SNP	ENST00000227348.4	37	c.347_splice	CCDS8437.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.956091	0.73902	.	.	ENSG00000109943	ENST00000227348	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4346	0.90640	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CRTAM	122229860	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.846000	0.69444	2.625000	0.88918	0.655000	0.94253	.		0.398	CRTAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387507.1	NM_019604	Intron	10	35	1	0	3.07e-06	3.34e-06	10	35				
VPS26B	112936	broad.mit.edu	37	11	134095034	134095034	+	Silent	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr11:134095034C>T	ENST00000281187.5	+	1	496	c.18C>T	c.(16-18)ttC>ttT	p.F6F	VPS26B_ENST00000525095.2_Silent_p.F6F|NCAPD3_ENST00000534548.2_5'Flank|NCAPD3_ENST00000526422.1_5'Flank	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	6					protein transport (GO:0015031)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		TCTTCGGCTTCGGGCAGAGCG	0.627																																					Colon(171;1263 1952 15904 45703 47982)	uc001qhe.2		NA																	0					0						c.(16-18)TTC>TTT		vacuolar protein sorting 26 homolog B							35.0	38.0	37.0					11																	134095034		2200	4296	6496	SO:0001819	synonymous_variant	112936				protein transport|vacuolar transport	cytosol|retromer complex		g.chr11:134095034C>T		CCDS8495.1	11q25	2008-02-05	2007-01-12		ENSG00000151502	ENSG00000151502			28119	protein-coding gene	gene with protein product		610027	"""vacuolar protein sorting 26 homolog B (yeast)"""			16190980	Standard	NM_052875		Approved	MGC10485, Pep8b	uc001qhe.3	Q4G0F5	OTTHUMG00000167175	ENST00000281187.5:c.18C>T	11.37:g.134095034C>T						NCAPD3_uc001qhd.1_5'Flank|NCAPD3_uc010scm.1_5'Flank|NCAPD3_uc009zda.1_5'Flank|NCAPD3_uc010scn.1_5'Flank	p.F6F	NM_052875	NP_443107	Q4G0F5	VP26B_HUMAN		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)	1	474	+	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	6					Q96A55	Silent	SNP	ENST00000281187.5	37	c.18C>T	CCDS8495.1																																																																																				0.627	VPS26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393591.1	NM_052875		5	10	0	0	0	0	5	10				
ERC1	23085	broad.mit.edu	37	12	1250924	1250924	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr12:1250924G>T	ENST00000397203.2	+	8	2114	c.1708G>T	c.(1708-1710)Gag>Tag	p.E570*	ERC1_ENST00000589028.1_Nonsense_Mutation_p.E570*|ERC1_ENST00000546231.2_Nonsense_Mutation_p.E570*|ERC1_ENST00000543086.3_Nonsense_Mutation_p.E542*|ERC1_ENST00000360905.4_Nonsense_Mutation_p.E570*|ERC1_ENST00000355446.5_Nonsense_Mutation_p.E570*|ERC1_ENST00000536573.2_3'UTR			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	570					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GGATGTGAAGGAGCGGAAGGT	0.423																																						uc001qjb.2		NA																	0				ovary(2)|lung(2)|breast(1)	5						c.(1708-1710)GAG>TAG		RAB6-interacting protein 2 isoform epsilon							204.0	145.0	165.0					12																	1250924		2203	4300	6503	SO:0001587	stop_gained	23085				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	g.chr12:1250924G>T	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.1708G>T	12.37:g.1250924G>T	ENSP00000380386:p.Glu570*					ERC1_uc001qiz.2_RNA|ERC1_uc001qjc.2_Nonsense_Mutation_p.E542*|ERC1_uc001qja.2_RNA|ERC1_uc001qjd.2_RNA|ERC1_uc001qjf.2_Nonsense_Mutation_p.E570*|ERC1_uc010sdv.1_Nonsense_Mutation_p.E318*|ERC1_uc009zdp.2_Nonsense_Mutation_p.E210*	p.E570*	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		8	1949	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		570			Potential.		A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Nonsense_Mutation	SNP	ENST00000397203.2	37	c.1708G>T	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	G	37	6.358870	0.97502	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971;ENST00000536573	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-25.0165	19.7243	0.96157	0.0:0.0:1.0:0.0	.	.	.	.	X	542;570;542;542;270;542;542;270;570;570;570;542;318;210	.	ENSP00000299183:E270X	E	+	1	0	ERC1	1121185	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	9.869000	0.99810	2.647000	0.89833	0.655000	0.94253	GAG		0.423	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064		16	275	1	0	1.15e-07	1.26e-07	16	275				
NCAPD2	9918	broad.mit.edu	37	12	6639016	6639016	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr12:6639016G>C	ENST00000315579.5	+	29	4528	c.3729G>C	c.(3727-3729)atG>atC	p.M1243I	NCAPD2_ENST00000545962.1_Missense_Mutation_p.M1198I|RP5-940J5.3_ENST00000537921.1_RNA	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1243					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						TCCGTAAGATGCTTGACAATT	0.532																																						uc001qoo.2		NA																	0				ovary(2)|lung(1)|breast(1)|kidney(1)	5						c.(3727-3729)ATG>ATC		non-SMC condensin I complex, subunit D2							98.0	95.0	96.0					12																	6639016		2203	4300	6503	SO:0001583	missense	9918				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	g.chr12:6639016G>C	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.3729G>C	12.37:g.6639016G>C	ENSP00000325017:p.Met1243Ile					NCAPD2_uc010sfd.1_Missense_Mutation_p.M1198I	p.M1243I	NM_014865	NP_055680	Q15021	CND1_HUMAN			29	3775	+			1243					D3DUR4|Q8N6U3	Missense_Mutation	SNP	ENST00000315579.5	37	c.3729G>C	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.019523	0.54576	.	.	ENSG00000010292	ENST00000315579;ENST00000545962	T;T	0.16073	2.63;2.37	5.56	5.56	0.83823	.	0.094103	0.64402	D	0.000001	T	0.18923	0.0454	L	0.38838	1.175	0.52099	D	0.999949	P;B	0.36789	0.57;0.057	B;B	0.37650	0.255;0.035	T	0.01393	-1.1366	10	0.39692	T	0.17	-25.0097	19.5263	0.95208	0.0:0.0:1.0:0.0	.	1198;1243	F5GZJ1;Q15021	.;CND1_HUMAN	I	1243;1198	ENSP00000325017:M1243I;ENSP00000444417:M1198I	ENSP00000325017:M1243I	M	+	3	0	NCAPD2	6509277	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.085000	0.76875	2.603000	0.88011	0.462000	0.41574	ATG		0.532	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		392	84	0	0	0	0	392	84				
DDX11	1663	broad.mit.edu	37	12	31253973	31253973	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr12:31253973C>T	ENST00000407793.2	+	20	2212	c.1961C>T	c.(1960-1962)cCt>cTt	p.P654L	DDX11_ENST00000545668.1_Missense_Mutation_p.P654L|DDX11_ENST00000542838.1_Missense_Mutation_p.P654L|DDX11_ENST00000350437.4_Missense_Mutation_p.P654L|DDX11_ENST00000228264.6_Missense_Mutation_p.P628L|DDX11_ENST00000251758.5_3'UTR	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	654					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CACGTGATCCCTCCAGACAAC	0.582										Multiple Myeloma(12;0.14)																												uc001rjt.1		NA																	0				breast(3)	3						c.(1960-1962)CCT>CTT		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11							96.0	105.0	102.0					12																	31253973		2203	4300	6503	SO:0001583	missense	1663				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	g.chr12:31253973C>T	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.1961C>T	12.37:g.31253973C>T	ENSP00000384703:p.Pro654Leu	Multiple Myeloma(12;0.14)				DDX11_uc001rjr.1_Missense_Mutation_p.P654L|DDX11_uc001rjs.1_Missense_Mutation_p.P654L|DDX11_uc001rju.1_Intron|DDX11_uc001rjv.1_Missense_Mutation_p.P654L|DDX11_uc001rjw.1_Missense_Mutation_p.P628L|DDX11_uc009zjn.1_RNA|DDX11_uc009zjo.1_5'Flank	p.P654L	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN			20	2212	+	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		654					Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	c.1961C>T	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.053414	0.75960	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000404673;ENST00000228264;ENST00000545668;ENST00000350437	D;T;D;T;T	0.83163	-1.69;-0.85;-1.6;-0.85;-1.43	3.75	3.75	0.43078	.	0.000000	0.85682	D	0.000000	D	0.92632	0.7659	M	0.93283	3.4	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.94232	0.7477	10	0.87932	D	0	.	13.181	0.59655	0.0:1.0:0.0:0.0	.	654;654;654	Q96FC9;Q96FC9-4;Q96FC9-2	DDX11_HUMAN;.;.	L	654;654;379;628;654;654	ENSP00000443426:P654L;ENSP00000384703:P654L;ENSP00000228264:P628L;ENSP00000440402:P654L;ENSP00000309965:P654L	ENSP00000228264:P628L	P	+	2	0	DDX11	31145240	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	6.873000	0.75541	1.932000	0.55993	0.597000	0.82753	CCT		0.582	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		15	114	0	0	0	0	15	114				
KMT2D	8085	broad.mit.edu	37	12	49441813	49441813	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr12:49441813C>T	ENST00000301067.7	-	14	4170	c.4171G>A	c.(4171-4173)Gag>Aag	p.E1391K		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1391					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										AGGTGGCCCTCTGCCCCCCGG	0.562																																						uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(4171-4173)GAG>AAG		myeloid/lymphoid or mixed-lineage leukemia 2							68.0	75.0	72.0					12																	49441813		2032	4182	6214	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49441813C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.4171G>A	12.37:g.49441813C>T	ENSP00000301067:p.Glu1391Lys	HNSCC(34;0.089)					p.E1391K	NM_003482	NP_003473	O14686	MLL2_HUMAN			14	4171	-			1391			PHD-type 3.		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.4171G>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.774159	0.69992	.	.	ENSG00000167548	ENST00000301067	D	0.84944	-1.92	5.83	5.83	0.93111	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.37261	N	0.002170	D	0.92208	0.7529	M	0.72118	2.19	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.92399	0.5928	10	0.87932	D	0	.	18.9089	0.92474	0.0:1.0:0.0:0.0	.	1391	O14686	MLL2_HUMAN	K	1391	ENSP00000301067:E1391K	ENSP00000301067:E1391K	E	-	1	0	MLL2	47728080	1.000000	0.71417	0.988000	0.46212	0.967000	0.64934	7.818000	0.86416	2.763000	0.94921	0.563000	0.77884	GAG		0.562	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			31	49	0	0	0	0	31	49				
STAT2	6773	broad.mit.edu	37	12	56743976	56743977	+	Splice_Site	DNP	TG	TG	AA			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr12:56743976_56743977TG>AA	ENST00000314128.4	-	13	1139		c.e13-2		RNU7-40P_ENST00000516397.1_RNA|STAT2_ENST00000556539.1_5'Flank|STAT2_ENST00000557235.1_Splice_Site|STAT2_ENST00000418572.2_Splice_Site			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa						cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						TTCCGGAAGCTGTTCCAGGAGG	0.426																																						uc001slc.2		NA																	0				ovary(1)|lung(1)|kidney(1)	3						c.e13-1		signal transducer and activator of transcription																																				SO:0001630	splice_region_variant	6773				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:56743976_56743977TG>AA	BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.1116_1116delinsAA	12.37:g.56743976_56743977delinsAA						STAT2_uc001slb.2_5'Flank|STAT2_uc001sld.2_Splice_Site_p.G368_splice|STAT2_uc010sqn.1_Splice_Site_p.G368_splice	p.G372_splice	NM_005419	NP_005410	P52630	STAT2_HUMAN			13	1194	-								B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Splice_Site	DNP	ENST00000314128.4	37	c.1116_splice	CCDS8917.1																																																																																				0.426	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419	Intron	29	83	0	0	0	0	29	83				
NR2C1	7181	broad.mit.edu	37	12	95451597	95451597	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr12:95451597G>A	ENST00000333003.5	-	6	932	c.602C>T	c.(601-603)gCc>gTc	p.A201V	NR2C1_ENST00000330677.7_Missense_Mutation_p.A201V|NR2C1_ENST00000393101.3_Missense_Mutation_p.A201V|NR2C1_ENST00000545833.1_5'UTR	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	201					gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						TGTTGAAGCGGCACAGTTGGA	0.343																																						uc001tdm.3		NA																	0				ovary(1)	1						c.(601-603)GCC>GTC		nuclear receptor subfamily 2, group C, member 1							121.0	119.0	120.0					12																	95451597		2203	4300	6503	SO:0001583	missense	7181				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:95451597G>A	M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"""Nuclear hormone receptors"""	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.602C>T	12.37:g.95451597G>A	ENSP00000333275:p.Ala201Val					NR2C1_uc010suu.1_Missense_Mutation_p.A201V|NR2C1_uc001tdo.3_Missense_Mutation_p.A201V|NR2C1_uc001tdn.3_Missense_Mutation_p.A201V	p.A201V	NM_003297	NP_003288	P13056	NR2C1_HUMAN			6	858	-			201					A8K5K4|Q15625|Q15626	Missense_Mutation	SNP	ENST00000333003.5	37	c.602C>T	CCDS9051.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.934588	0.92458	.	.	ENSG00000120798	ENST00000333003;ENST00000393101;ENST00000330677	D;D;D	0.92149	-2.98;-2.7;-2.7	5.6	5.6	0.85130	Nuclear hormone receptor, ligand-binding (1);	0.000000	0.85682	D	0.000000	D	0.95921	0.8672	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	0.998;0.998;1.0;0.997	D;D;D;D	0.80764	0.989;0.994;0.989;0.985	D	0.95074	0.8207	10	0.44086	T	0.13	.	19.6188	0.95647	0.0:0.0:1.0:0.0	.	201;201;201;201	B6ZGT7;P13056-3;P13056-2;P13056	.;.;.;NR2C1_HUMAN	V	201	ENSP00000333275:A201V;ENSP00000376813:A201V;ENSP00000328843:A201V	ENSP00000328843:A201V	A	-	2	0	NR2C1	93975728	1.000000	0.71417	0.966000	0.40874	0.889000	0.51656	9.385000	0.97223	2.646000	0.89796	0.655000	0.94253	GCC		0.343	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2	NM_003297		4	147	0	0	0	0	4	147				
RIMBP2	23504	broad.mit.edu	37	12	130921646	130921646	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr12:130921646G>C	ENST00000261655.4	-	10	1959	c.1796C>G	c.(1795-1797)tCa>tGa	p.S599*	RIMBP2_ENST00000535703.1_Nonsense_Mutation_p.S507*|RIMBP2_ENST00000536002.1_Nonsense_Mutation_p.S507*	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	599	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TAATGGCTTTGATTGGGGTGC	0.652																																						uc001uil.2		NA																	0				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11						c.(1795-1797)TCA>TGA		RIM-binding protein 2							52.0	42.0	45.0					12																	130921646		2203	4299	6502	SO:0001587	stop_gained	23504					cell junction|synapse		g.chr12:130921646G>C	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1796C>G	12.37:g.130921646G>C	ENSP00000261655:p.Ser599*					RIMBP2_uc001uim.2_Nonsense_Mutation_p.S507*|RIMBP2_uc001uin.1_Nonsense_Mutation_p.S258*	p.S599*	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	10	1960	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	599			Pro-rich.		Q96ID2	Nonsense_Mutation	SNP	ENST00000261655.4	37	c.1796C>G	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	G	46	12.545890	0.99676	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	.	.	.	4.63	2.63	0.31362	.	1.547880	0.03516	N	0.220299	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-2.5059	5.6059	0.17379	0.192:0.1576:0.6505:0.0	.	.	.	.	X	599;507;507;507	.	ENSP00000261655:S599X	S	-	2	0	RIMBP2	129487599	0.992000	0.36948	0.027000	0.17364	0.017000	0.09413	4.505000	0.60421	0.319000	0.23209	0.561000	0.74099	TCA		0.652	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		4	16	0	0	0	0	4	16				
NBEA	26960	broad.mit.edu	37	13	35685031	35685031	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr13:35685031G>C	ENST00000400445.3	+	13	2452	c.1918G>C	c.(1918-1920)Gta>Cta	p.V640L	NBEA_ENST00000310336.4_Missense_Mutation_p.V640L|NBEA_ENST00000540320.1_Missense_Mutation_p.V640L|NBEA_ENST00000379939.2_Missense_Mutation_p.V640L	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	640					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AGTAGGAACAGTATTACAGCT	0.373																																						uc001uvb.2		NA																	0				ovary(9)|large_intestine(2)	11						c.(1918-1920)GTA>CTA		neurobeachin							82.0	78.0	79.0					13																	35685031		1888	4106	5994	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35685031G>C	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.1918G>C	13.37:g.35685031G>C	ENSP00000383295:p.Val640Leu						p.V640L	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	14	2124	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	640					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.1918G>C	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.860483	0.91433	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.39229	1.09;1.09;1.09;1.09	4.92	4.92	0.64577	.	0.000000	0.64402	D	0.000001	T	0.67011	0.2848	M	0.80183	2.485	0.80722	D	1	D	0.58970	0.984	D	0.70016	0.967	T	0.70655	-0.4812	10	0.51188	T	0.08	.	18.1255	0.89584	0.0:0.0:1.0:0.0	.	640	Q5T321	.	L	640	ENSP00000440951:V640L;ENSP00000383295:V640L;ENSP00000369271:V640L;ENSP00000308534:V640L	ENSP00000308534:V640L	V	+	1	0	NBEA	34583031	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.813000	0.99286	2.282000	0.76494	0.655000	0.94253	GTA		0.373	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		19	43	0	0	0	0	19	43				
SLITRK5	26050	broad.mit.edu	37	13	88330088	88330088	+	Silent	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr13:88330088G>A	ENST00000325089.6	+	2	2664	c.2445G>A	c.(2443-2445)ctG>ctA	p.L815L	SLITRK5_ENST00000400028.3_Silent_p.L574L	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	815					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					agctgcagctgcagcCCGGGG	0.711																																						uc001vln.2		NA																	0				ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(2443-2445)CTG>CTA		SLIT and NTRK-like family, member 5 precursor							8.0	12.0	11.0					13																	88330088		2092	4114	6206	SO:0001819	synonymous_variant	26050					integral to membrane		g.chr13:88330088G>A	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2445G>A	13.37:g.88330088G>A						SLITRK5_uc010tic.1_Silent_p.L574L	p.L815L	NM_015567	NP_056382	O94991	SLIK5_HUMAN			2	2664	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		815			Cytoplasmic (Potential).		B3KNB8|B4DSH5|Q5VT81	Silent	SNP	ENST00000325089.6	37	c.2445G>A	CCDS9465.1																																																																																				0.711	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			3	6	0	0	0	0	3	6				
IPO5	3843	broad.mit.edu	37	13	98668033	98668033	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr13:98668033G>A	ENST00000490680.1	+	21	2556	c.2491G>A	c.(2491-2493)Gag>Aag	p.E831K	IPO5_ENST00000539640.1_Missense_Mutation_p.E706K|IPO5_ENST00000261574.5_Missense_Mutation_p.E849K			O00410	IPO5_HUMAN	importin 5	831					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						ACTACAAGATGAGGTAAGTTA	0.358																																						uc001vne.2		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(2545-2547)GAG>AAG		importin 5							117.0	111.0	113.0					13																	98668033		2203	4300	6503	SO:0001583	missense	3843				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	g.chr13:98668033G>A	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.2491G>A	13.37:g.98668033G>A	ENSP00000418393:p.Glu831Lys						p.E849K	NM_002271	NP_002262	O00410	IPO5_HUMAN			24	2725	+			831					B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	ENST00000490680.1	37	c.2545G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.818263|5.818263	0.96982|0.96982	.|.	.|.	ENSG00000065150|ENSG00000065150	ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640|ENST00000469360	T;T;T;T|.	0.68765|.	-0.35;-0.35;-0.35;-0.35|.	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	0.043780|.	0.85682|.	N|.	0.000000|.	T|T	0.78861|0.78861	0.4350|0.4350	M|M	0.76838|0.76838	2.35|2.35	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	D|.	0.71870|.	0.975|.	T|T	0.76898|0.76898	-0.2789|-0.2789	10|5	0.72032|.	D|.	0.01|.	-12.5608|-12.5608	20.1519|20.1519	0.98089|0.98089	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	849|.	O00410-3|.	.|.	K|I	849;831;831;706|832	ENSP00000261574:E849K;ENSP00000350219:E831K;ENSP00000418393:E831K;ENSP00000445126:E706K|.	ENSP00000261574:E849K|.	E|M	+|+	1|3	0|0	IPO5|IPO5	97466034|97466034	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.252000|7.252000	0.78309|0.78309	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	GAG|ATG		0.358	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271		11	27	0	0	0	0	11	27				
DNAAF2	55172	broad.mit.edu	37	14	50092739	50092739	+	Silent	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr14:50092739G>A	ENST00000298292.8	-	3	2115	c.2035C>T	c.(2035-2037)Cta>Tta	p.L679L	RP11-649E7.5_ENST00000555043.1_RNA|DNAAF2_ENST00000406043.3_Silent_p.L631L	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	679					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)				kidney(1)|lung(4)	5						TTTCCTTGTAGCTGATCAGAG	0.303																																						uc001wws.3		NA																	0					0						c.(2035-2037)CTA>TTA		kintoun isoform 1							51.0	45.0	47.0					14																	50092739		2198	4295	6493	SO:0001819	synonymous_variant	55172	Kartagener_syndrome			axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm		g.chr14:50092739G>A	AK001425	CCDS9691.2, CCDS45100.1	14q21.3	2012-05-03	2011-06-09	2011-06-09	ENSG00000165506	ENSG00000165506			20188	protein-coding gene	gene with protein product	"""kintoun"""	612517	"""chromosome 14 open reading frame 104"""	C14orf104			Standard	NM_001083908		Approved	FLJ10563, KTU, PF13, CILD10	uc001wws.4	Q9NVR5	OTTHUMG00000152331	ENST00000298292.8:c.2035C>T	14.37:g.50092739G>A						SDCCAG1_uc010anj.1_Intron|C14orf104_uc001wwt.3_Silent_p.L631L	p.L679L	NM_018139	NP_060609	Q9NVR5	KTU_HUMAN			3	2116	-	all_epithelial(31;0.0021)|Breast(41;0.0124)		679					B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	Silent	SNP	ENST00000298292.8	37	c.2035C>T	CCDS9691.2																																																																																				0.303	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276813.1			3	8	0	0	0	0	3	8				
PPP2R5E	5529	broad.mit.edu	37	14	63860550	63860550	+	Silent	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr14:63860550G>C	ENST00000337537.3	-	8	1439	c.837C>G	c.(835-837)ctC>ctG	p.L279L	PPP2R5E_ENST00000422769.2_Silent_p.L203L|PPP2R5E_ENST00000555899.1_Silent_p.L279L|PPP2R5E_ENST00000553266.1_5'UTR	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	279					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		GTGCATGGAAGAGTGATAAGC	0.348																																						uc001xgd.1		NA																	0				ovary(1)	1						c.(835-837)CTC>CTG		epsilon isoform of regulatory subunit B56,							109.0	108.0	108.0					14																	63860550		2203	4300	6503	SO:0001819	synonymous_variant	5529				signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr14:63860550G>C	L76703	CCDS9758.1, CCDS61467.1, CCDS61468.1	14q23.2	2010-06-18	2007-01-22		ENSG00000154001	ENSG00000154001		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9313	protein-coding gene	gene with protein product		601647	"""protein phosphatase 2, regulatory subunit B (B56), epsilon isoform"""			7592815	Standard	NM_006246		Approved		uc001xgd.1	Q16537	OTTHUMG00000140341	ENST00000337537.3:c.837C>G	14.37:g.63860550G>C						PPP2R5E_uc010tsf.1_Silent_p.L203L|PPP2R5E_uc010tsg.1_Silent_p.L203L|PPP2R5E_uc001xge.2_Silent_p.L279L|PPP2R5E_uc010tsh.1_Silent_p.L279L|PPP2R5E_uc001xgf.1_RNA	p.L279L	NM_006246	NP_006237	Q16537	2A5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)	8	1427	-			279					A4FU37|B7ZAW5|B7ZKK8|B7ZKK9|J3KQN6|Q52LW4	Silent	SNP	ENST00000337537.3	37	c.837C>G	CCDS9758.1																																																																																				0.348	PPP2R5E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276973.1	NM_006246		6	10	0	0	0	0	6	10				
SMEK1	55671	broad.mit.edu	37	14	91948149	91948149	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr14:91948149G>A	ENST00000554943.1	-	4	801	c.686C>T	c.(685-687)gCt>gTt	p.A229V	SMEK1_ENST00000555462.1_Intron|SMEK1_ENST00000554684.1_Missense_Mutation_p.A229V|SMEK1_ENST00000428424.2_Intron|SMEK1_ENST00000337238.4_Missense_Mutation_p.A229V			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	229					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		TTGTGATAAAGCAGGATCATA	0.348																																						uc001xzn.2		NA																	0					0						c.(685-687)GCT>GTT		SMEK homolog 1, suppressor of mek1							158.0	147.0	151.0					14																	91948149		2203	4300	6503	SO:0001583	missense	55671					microtubule organizing center|nucleus	protein binding	g.chr14:91948149G>A	AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"""KIAA2010"""	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.686C>T	14.37:g.91948149G>A	ENSP00000450883:p.Ala229Val					SMEK1_uc001xzm.2_Missense_Mutation_p.A229V|SMEK1_uc001xzo.2_Missense_Mutation_p.A229V|SMEK1_uc010atz.2_Intron|SMEK1_uc001xzp.1_RNA|SMEK1_uc001xzq.1_Missense_Mutation_p.A105V	p.A229V	NM_032560	NP_115949	Q6IN85	P4R3A_HUMAN		COAD - Colon adenocarcinoma(157;0.221)	4	1508	-		all_cancers(154;0.0691)|all_epithelial(191;0.219)	229					Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Missense_Mutation	SNP	ENST00000554943.1	37	c.686C>T		.	.	.	.	.	.	.	.	.	.	G	22.7	4.326416	0.81690	.	.	ENSG00000100796	ENST00000554684;ENST00000337238;ENST00000554943;ENST00000554390;ENST00000417249	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	6.03	6.03	0.97812	Domain of unknown function DUF625 (1);Armadillo-type fold (1);	0.196399	0.56097	D	0.000033	T	0.51041	0.1651	M	0.78049	2.395	0.80722	D	1	B;B;B	0.25206	0.05;0.045;0.12	B;B;B	0.25759	0.049;0.063;0.038	T	0.47611	-0.9104	10	0.49607	T	0.09	-8.9744	20.5568	0.99304	0.0:0.0:1.0:0.0	.	229;229;229	G3V5Z3;Q6IN85;Q6IN85-2	.;P4R3A_HUMAN;.	V	229;229;229;229;19	ENSP00000450864:A229V;ENSP00000337125:A229V;ENSP00000450883:A229V;ENSP00000452596:A229V	ENSP00000337125:A229V	A	-	2	0	SMEK1	91017902	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.861000	0.98227	0.655000	0.94253	GCT		0.348	SMEK1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000411665.1	NM_032560		19	38	0	0	0	0	19	38				
ATP10A	57194	broad.mit.edu	37	15	25966813	25966813	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr15:25966813C>G	ENST00000356865.6	-	7	1465	c.1354G>C	c.(1354-1356)Gat>Cat	p.D452H		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	452					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CCATTTGCATCATGAGAATAT	0.468																																						uc010ayu.2		NA																	0				pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(1354-1356)GAT>CAT		ATPase, class V, type 10A							106.0	97.0	100.0					15																	25966813		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25966813C>G	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.1354G>C	15.37:g.25966813C>G	ENSP00000349325:p.Asp452His						p.D452H	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	7	1460	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	452			Cytoplasmic (Potential).		Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.1354G>C	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.017223	0.35606	.	.	ENSG00000206190	ENST00000356865	T	0.62941	-0.01	5.67	5.67	0.87782	HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	T	0.65302	0.2678	L	0.60845	1.875	0.80722	D	1	B	0.25441	0.126	B	0.32724	0.151	T	0.61802	-0.6988	10	0.45353	T	0.12	-25.1222	19.7649	0.96335	0.0:1.0:0.0:0.0	.	452	O60312	AT10A_HUMAN	H	452	ENSP00000349325:D452H	ENSP00000349325:D452H	D	-	1	0	ATP10A	23517906	1.000000	0.71417	0.956000	0.39512	0.027000	0.11550	5.843000	0.69424	2.673000	0.90976	0.643000	0.83706	GAT		0.468	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		17	69	0	0	0	0	17	69				
HERC2	8924	broad.mit.edu	37	15	28358347	28358347	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr15:28358347A>G	ENST00000261609.7	-	92	14210	c.14102T>C	c.(14101-14103)aTc>aCc	p.I4701T		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GAACCACTGGATCAGCGATGC	0.607																																						uc001zbj.2		NA																	0				ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(14101-14103)ATC>ACC		hect domain and RLD 2							84.0	69.0	74.0					15																	28358347		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28358347A>G	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.14102T>C	15.37:g.28358347A>G	ENSP00000261609:p.Ile4701Thr					HERC2_uc001zbi.2_Missense_Mutation_p.I390T	p.I4701T	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	92	14208	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4701			HECT.			Missense_Mutation	SNP	ENST00000261609.7	37	c.14102T>C	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	A	16.49	3.137794	0.56936	.	.	ENSG00000128731	ENST00000261609	T	0.61980	0.06	5.15	4.02	0.46733	HECT (4);	0.236648	0.40222	N	0.001147	T	0.70815	0.3267	M	0.94101	3.495	0.51767	D	0.999938	P;B	0.35124	0.485;0.167	B;B	0.36378	0.223;0.081	T	0.74051	-0.3789	10	0.87932	D	0	.	10.8408	0.46715	0.9258:0.0:0.0742:0.0	.	4701;390	O95714;Q8ND39	HERC2_HUMAN;.	T	4701	ENSP00000261609:I4701T	ENSP00000261609:I4701T	I	-	2	0	HERC2	26031942	1.000000	0.71417	0.968000	0.41197	0.859000	0.49053	5.326000	0.65875	0.809000	0.34255	0.459000	0.35465	ATC		0.607	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		11	48	0	0	0	0	11	48				
CGNL1	84952	broad.mit.edu	37	15	57815716	57815716	+	Silent	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr15:57815716G>A	ENST00000281282.5	+	11	2823	c.2745G>A	c.(2743-2745)caG>caA	p.Q915Q		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	915						myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CCCAGGAGCAGAAGCAGTTGT	0.532																																						uc002aeg.2		NA																	0				skin(6)|ovary(4)|central_nervous_system(1)	11						c.(2743-2745)CAG>CAA		cingulin-like 1							86.0	84.0	85.0					15																	57815716		2192	4292	6484	SO:0001819	synonymous_variant	84952					myosin complex|tight junction	motor activity	g.chr15:57815716G>A	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.2745G>A	15.37:g.57815716G>A						CGNL1_uc010bfw.2_Silent_p.Q915Q	p.Q915Q	NM_032866	NP_116255	Q0VF96	CGNL1_HUMAN		all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	11	2821	+			915			Potential.		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Silent	SNP	ENST00000281282.5	37	c.2745G>A	CCDS10161.1																																																																																				0.532	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		43	20	0	0	0	0	43	20				
GRIN2A	2903	broad.mit.edu	37	16	10274118	10274118	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr16:10274118G>C	ENST00000396573.2	-	3	460	c.151C>G	c.(151-153)Ctt>Gtt	p.L51V	GRIN2A_ENST00000404927.2_Missense_Mutation_p.L51V|GRIN2A_ENST00000562109.1_Missense_Mutation_p.L51V|GRIN2A_ENST00000330684.3_Missense_Mutation_p.L51V|GRIN2A_ENST00000396575.2_Missense_Mutation_p.L51V	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	51					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AGTGTTCGAAGTTCGCGCTCT	0.682																																						uc002czo.3		NA																	0				skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(151-153)CTT>GTT		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						56.0	61.0	60.0					16																	10274118		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:10274118G>C		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.151C>G	16.37:g.10274118G>C	ENSP00000379818:p.Leu51Val					GRIN2A_uc010uym.1_Missense_Mutation_p.L51V|GRIN2A_uc002czr.3_Missense_Mutation_p.L51V|GRIN2A_uc010buk.2_Missense_Mutation_p.L51V	p.L51V	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			2	699	-			51			Extracellular (Potential).		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.151C>G	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	10.40	1.339167	0.24253	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000330684;ENST00000396575	D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08	4.54	3.51	0.40186	.	0.323835	0.26220	N	0.025640	T	0.77096	0.4080	L	0.29908	0.895	0.80722	D	1	B;B;B	0.16166	0.016;0.0;0.0	B;B;B	0.12156	0.007;0.001;0.0	T	0.69960	-0.5003	9	.	.	.	.	9.2627	0.37623	0.0:0.0:0.5461:0.4539	.	51;51;51	Q547U9;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	V	51	ENSP00000379818:L51V;ENSP00000385872:L51V;ENSP00000332549:L51V;ENSP00000379820:L51V	.	L	-	1	0	GRIN2A	10181619	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.099000	0.50267	2.088000	0.63022	0.561000	0.74099	CTT		0.682	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			16	93	0	0	0	0	16	93				
ZKSCAN2	342357	broad.mit.edu	37	16	25268325	25268325	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr16:25268325C>G	ENST00000328086.7	-	1	927	c.124G>C	c.(124-126)Gag>Cag	p.E42Q		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	42					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CGGAAGGTCTCAGAGCTATCC	0.522											OREG0023690	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002dod.3		NA																	0				ovary(3)|breast(1)	4						c.(124-126)GAG>CAG		zinc finger with KRAB and SCAN domains 2							63.0	68.0	66.0					16																	25268325		2197	4300	6497	SO:0001583	missense	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25268325C>G	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.124G>C	16.37:g.25268325C>G	ENSP00000331626:p.Glu42Gln		OREG0023690	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	777	ZKSCAN2_uc010vcl.1_5'UTR|ZKSCAN2_uc002doe.2_Missense_Mutation_p.E42Q	p.E42Q	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	1	531	-			42					A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	37	c.124G>C	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.153059	0.78001	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.09817	2.94	5.19	5.19	0.71726	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (2);	0.000000	0.64402	D	0.000007	T	0.46249	0.1383	H	0.96080	3.765	0.37216	D	0.905026	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.998	T	0.65726	-0.6098	10	0.87932	D	0	-23.292	14.0873	0.64964	0.0:1.0:0.0:0.0	.	42;42	Q63HK3-2;Q63HK3	.;ZKSC2_HUMAN	Q	42	ENSP00000331626:E42Q	ENSP00000331626:E42Q	E	-	1	0	ZKSCAN2	25175826	0.008000	0.16893	0.998000	0.56505	0.624000	0.37722	1.701000	0.37825	2.693000	0.91896	0.650000	0.86243	GAG		0.522	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		15	40	0	0	0	0	15	40				
CPNE2	221184	broad.mit.edu	37	16	57149418	57149418	+	Silent	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr16:57149418C>T	ENST00000535318.2	+	5	752	c.391C>T	c.(391-393)Ctg>Ttg	p.L131L	CPNE2_ENST00000537605.1_Silent_p.L29L|CPNE2_ENST00000290776.8_Silent_p.L131L|CPNE2_ENST00000565874.1_Silent_p.L131L			Q96FN4	CPNE2_HUMAN	copine II	131						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				CACTAGGCCTCTGCTGCTGCT	0.622																																						uc002eks.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(391-393)CTG>TTG		copine II							83.0	77.0	79.0					16																	57149418		2198	4300	6498	SO:0001819	synonymous_variant	221184							g.chr16:57149418C>T		CCDS10774.1	16q13	2008-02-05			ENSG00000140848	ENSG00000140848			2315	protein-coding gene	gene with protein product		604206				9430674	Standard	NM_152727		Approved	CPN2	uc002eks.2	Q96FN4	OTTHUMG00000133471	ENST00000535318.2:c.391C>T	16.37:g.57149418C>T						CPNE2_uc010cct.1_Silent_p.L157L|CPNE2_uc010ccu.1_Silent_p.L131L	p.L131L	NM_152727	NP_689940	Q96FN4	CPNE2_HUMAN			4	620	+		all_neural(199;0.224)	131					Q68D19|Q719H8|Q86XP9	Silent	SNP	ENST00000535318.2	37	c.391C>T	CCDS10774.1																																																																																				0.622	CPNE2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432986.2	NM_152727		14	46	0	0	0	0	14	46				
CPNE2	221184	broad.mit.edu	37	16	57153158	57153158	+	Missense_Mutation	SNP	G	G	A	rs548667012		TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr16:57153158G>A	ENST00000535318.2	+	7	920	c.559G>A	c.(559-561)Gat>Aat	p.D187N	CPNE2_ENST00000537605.1_Missense_Mutation_p.D85N|CPNE2_ENST00000290776.8_Missense_Mutation_p.D187N|CPNE2_ENST00000565874.1_Missense_Mutation_p.D187N			Q96FN4	CPNE2_HUMAN	copine II	187	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				GCCAGGAGACGATGGCAAGTG	0.587																																						uc002eks.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(559-561)GAT>AAT		copine II							108.0	98.0	101.0					16																	57153158		2198	4300	6498	SO:0001583	missense	221184							g.chr16:57153158G>A		CCDS10774.1	16q13	2008-02-05			ENSG00000140848	ENSG00000140848			2315	protein-coding gene	gene with protein product		604206				9430674	Standard	NM_152727		Approved	CPN2	uc002eks.2	Q96FN4	OTTHUMG00000133471	ENST00000535318.2:c.559G>A	16.37:g.57153158G>A	ENSP00000439018:p.Asp187Asn					CPNE2_uc010cct.1_Missense_Mutation_p.D213N|CPNE2_uc010ccu.1_Missense_Mutation_p.D187N	p.D187N	NM_152727	NP_689940	Q96FN4	CPNE2_HUMAN			6	788	+		all_neural(199;0.224)	187			C2 2.		Q68D19|Q719H8|Q86XP9	Missense_Mutation	SNP	ENST00000535318.2	37	c.559G>A	CCDS10774.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166914	0.78339	.	.	ENSG00000140848	ENST00000290776;ENST00000537605;ENST00000535318	T;T;T	0.43294	0.95;0.95;0.95	5.5	5.5	0.81552	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.54351	0.1853	L	0.28649	0.875	0.58432	D	0.999992	D;P	0.89917	1.0;0.857	D;B	0.73380	0.98;0.279	T	0.51387	-0.8712	10	0.40728	T	0.16	-19.3091	19.397	0.94611	0.0:0.0:1.0:0.0	.	187;187	A8K8A4;Q96FN4	.;CPNE2_HUMAN	N	187;85;187	ENSP00000290776:D187N;ENSP00000445468:D85N;ENSP00000439018:D187N	ENSP00000290776:D187N	D	+	1	0	CPNE2	55710659	1.000000	0.71417	0.990000	0.47175	0.980000	0.70556	5.673000	0.68109	2.594000	0.87642	0.555000	0.69702	GAT		0.587	CPNE2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432986.2	NM_152727		30	90	0	0	0	0	30	90				
OR3A2	4995	broad.mit.edu	37	17	3181289	3181289	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr17:3181289A>C	ENST00000408891.2	-	1	979	c.941T>G	c.(940-942)tTt>tGt	p.F314C	RP11-64J4.2_ENST00000573491.1_RNA	NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	314					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)			ovary(1)	1						CCTCCCCAAAAATATTTGCCA	0.463																																					GBM(166;478 2018 3875 5042 31983)|Esophageal Squamous(77;407 1232 1405 14297 15272)	uc002fvg.2		NA																	0				ovary(1)	1						c.(940-942)TTT>TGT		olfactory receptor, family 3, subfamily A,							61.0	64.0	63.0					17																	3181289		2110	4235	6345	SO:0001583	missense	4995				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr17:3181289A>C	U04713	CCDS42233.1	17p13.3	2012-08-09				ENSG00000221882		"""GPCR / Class A : Olfactory receptors"""	8283	protein-coding gene	gene with protein product						8921386, 10673334	Standard	NM_002551		Approved	OLFRA04, OR228, OR17-228	uc002fvg.3	P47893		ENST00000408891.2:c.941T>G	17.37:g.3181289A>C	ENSP00000386180:p.Phe314Cys						p.F314C	NM_002551	NP_002542	P47893	OR3A2_HUMAN			1	980	-			314			Cytoplasmic (Potential).		Q6IFM3|Q9P1Q3	Missense_Mutation	SNP	ENST00000408891.2	37	c.941T>G	CCDS42233.1	.	.	.	.	.	.	.	.	.	.	A	16.14	3.039008	0.55003	.	.	ENSG00000221882	ENST00000408891	T	0.41065	1.01	4.34	4.34	0.51931	.	1.114870	0.06985	N	0.820703	T	0.41858	0.1177	N	0.12182	0.205	0.09310	N	1	D	0.54601	0.967	P	0.54372	0.75	T	0.44877	-0.9299	10	0.62326	D	0.03	-2.3522	12.1253	0.53913	1.0:0.0:0.0:0.0	.	314	P47893	OR3A2_HUMAN	C	314	ENSP00000386180:F314C	ENSP00000386180:F314C	F	-	2	0	OR3A2	3128039	0.010000	0.17322	0.003000	0.11579	0.002000	0.02628	3.280000	0.51677	2.192000	0.70111	0.459000	0.35465	TTT		0.463	OR3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438370.1			8	48	0	0	0	0	8	48				
ZNF594	84622	broad.mit.edu	37	17	5085147	5085147	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr17:5085147C>G	ENST00000399604.4	-	1	2545	c.2405G>C	c.(2404-2406)aGa>aCa	p.R802T	ZNF594_ENST00000575779.1_Missense_Mutation_p.R802T			Q96JF6	ZN594_HUMAN	zinc finger protein 594	802					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						CTCAGAAGGTCTGAGCTCTGA	0.403																																						uc010cla.1		NA																	0				ovary(2)|skin(1)	3						c.(2404-2406)AGA>ACA		zinc finger protein 594							179.0	179.0	179.0					17																	5085147		2021	4203	6224	SO:0001583	missense	84622				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:5085147C>G	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.2405G>C	17.37:g.5085147C>G	ENSP00000382513:p.Arg802Thr						p.R802T	NM_032530	NP_115919	Q96JF6	ZN594_HUMAN			2	2561	-			802					Q6RFS0	Missense_Mutation	SNP	ENST00000399604.4	37	c.2405G>C	CCDS42241.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.219|5.219	0.225895|0.225895	0.09916|0.09916	.|.	.|.	ENSG00000180626|ENSG00000180626	ENST00000381752|ENST00000399604	.|T	.|0.08282	.|3.11	0.98|0.98	-0.18|-0.18	0.13295|0.13295	.|.	.|.	.|.	.|.	.|.	T|T	0.04137|0.04137	0.0115|0.0115	N|N	0.17278|0.17278	0.47|0.47	0.09310|0.09310	N|N	1|1	.|B	.|0.24963	.|0.115	.|B	.|0.11329	.|0.006	T|T	0.40553|0.40553	-0.9557|-0.9557	6|9	0.16420|0.45353	T|T	0.52|0.12	.|.	2.2793|2.2793	0.04110|0.04110	0.0:0.388:0.3393:0.2727|0.0:0.388:0.3393:0.2727	.|.	.|802	.|Q96JF6	.|ZN594_HUMAN	H|T	14|802	.|ENSP00000382513:R802T	ENSP00000371171:D14H|ENSP00000382513:R802T	D|R	-|-	1|2	0|0	ZNF594|ZNF594	5025871|5025871	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.376000|0.376000	0.30014|0.30014	-9.043000|-9.043000	0.00014|0.00014	0.489000|0.489000	0.27749|0.27749	0.289000|0.289000	0.19496|0.19496	GAC|AGA		0.403	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1	XM_290737		40	114	0	0	0	0	40	114				
ZNF624	57547	broad.mit.edu	37	17	16527489	16527489	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr17:16527489C>G	ENST00000311331.7	-	6	802	c.711G>C	c.(709-711)ttG>ttC	p.L237F		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	237					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TATCTGTAATCAAATTTAAAT	0.383																																					NSCLC(186;1023 2134 13330 38202 39800)	uc010cpi.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(709-711)TTG>TTC		zinc finger protein 624							104.0	108.0	107.0					17																	16527489		2203	4300	6503	SO:0001583	missense	57547				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:16527489C>G	AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"""Zinc fingers, C2H2-type"", ""-"""	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.711G>C	17.37:g.16527489C>G	ENSP00000310472:p.Leu237Phe						p.L237F	NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	6	794	-			237					Q3SY62|Q3SY63|Q6ZN27	Missense_Mutation	SNP	ENST00000311331.7	37	c.711G>C	CCDS11180.1	.	.	.	.	.	.	.	.	.	.	C	1.918	-0.448927	0.04572	.	.	ENSG00000197566	ENST00000311331	T	0.05580	3.42	2.94	2.94	0.34122	.	.	.	.	.	T	0.07863	0.0197	L	0.58101	1.795	0.29200	N	0.875266	B	0.32968	0.392	B	0.23574	0.047	T	0.05599	-1.0875	9	0.51188	T	0.08	.	12.1122	0.53846	0.0:1.0:0.0:0.0	.	237	Q9P2J8	ZN624_HUMAN	F	237	ENSP00000310472:L237F	ENSP00000310472:L237F	L	-	3	2	ZNF624	16468214	0.000000	0.05858	0.902000	0.35471	0.060000	0.15804	-2.293000	0.01145	1.962000	0.57031	0.563000	0.77884	TTG		0.383	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3	XM_047617		22	66	0	0	0	0	22	66				
KRTAP4-11	653240	broad.mit.edu	37	17	39274424	39274424	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr17:39274424G>C	ENST00000391413.2	-	1	182	c.144C>G	c.(142-144)agC>agG	p.S48R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	48	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.S48R(2)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCCTGCAGCAGCTGGACACAC	0.672																																						uc002hvz.2		NA																	2	Substitution - Missense(2)		lung(1)|endometrium(1)		0						c.(142-144)AGC>AGG		keratin associated protein 4-11							11.0	16.0	14.0					17																	39274424		687	1589	2276	SO:0001583	missense	653240					keratin filament		g.chr17:39274424G>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.144C>G	17.37:g.39274424G>C	ENSP00000375232:p.Ser48Arg						p.S48R	NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	183	-		Breast(137;0.000496)	48		Missing (in allele KAP4.14).	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].|5.		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.144C>G	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	13.52	2.262143	0.39995	.	.	ENSG00000212721	ENST00000391413	T	0.01963	4.53	3.91	3.91	0.45181	.	0.663392	0.11138	N	0.595595	T	0.06826	0.0174	M	0.91717	3.235	0.27842	N	0.941075	B	0.21606	0.058	B	0.25614	0.062	T	0.08310	-1.0728	10	0.66056	D	0.02	.	7.305	0.26443	0.1194:0.0:0.8806:0.0	.	48	Q9BYQ6	KR411_HUMAN	R	48	ENSP00000375232:S48R	ENSP00000375232:S48R	S	-	3	2	KRTAP4-11	36527950	0.739000	0.28196	0.990000	0.47175	0.119000	0.20118	0.787000	0.26858	2.015000	0.59207	0.609000	0.83330	AGC		0.672	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			6	55	0	0	0	0	6	55				
RPTOR	57521	broad.mit.edu	37	17	78858859	78858859	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr17:78858859G>C	ENST00000306801.3	+	17	2256	c.1894G>C	c.(1894-1896)Gag>Cag	p.E632Q	RPTOR_ENST00000544334.2_Intron|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	632					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CAACTCTGCAGAGAGGACGGA	0.672																																						uc002jyt.1		NA																	0				lung(4)|urinary_tract(1)|ovary(1)	6						c.(1894-1896)GAG>CAG		raptor isoform 1							61.0	44.0	50.0					17																	78858859		2203	4300	6503	SO:0001583	missense	57521				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	g.chr17:78858859G>C		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.1894G>C	17.37:g.78858859G>C	ENSP00000307272:p.Glu632Gln					RPTOR_uc010wug.1_Intron	p.E632Q	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN			17	2699	+			632					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	c.1894G>C	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.896166	0.91962	.	.	ENSG00000141564	ENST00000306801	T	0.39997	1.05	4.78	4.78	0.61160	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.37544	0.1007	L	0.31476	0.935	0.80722	D	1	D	0.56035	0.974	P	0.45913	0.497	T	0.10268	-1.0637	10	0.24483	T	0.36	.	17.8063	0.88602	0.0:0.0:1.0:0.0	.	632	Q8N122	RPTOR_HUMAN	Q	632	ENSP00000307272:E632Q	ENSP00000307272:E632Q	E	+	1	0	RPTOR	76473454	1.000000	0.71417	0.967000	0.41034	0.897000	0.52465	9.259000	0.95561	2.209000	0.71365	0.462000	0.41574	GAG		0.672	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		4	13	0	0	0	0	4	13				
SETBP1	26040	broad.mit.edu	37	18	42530340	42530340	+	Silent	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr18:42530340G>A	ENST00000282030.5	+	4	1331	c.1035G>A	c.(1033-1035)caG>caA	p.Q345Q		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	345						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TGATAAGTCAGACCATACCAA	0.483									Schinzel-Giedion syndrome																													uc010dni.2		NA																	0				upper_aerodigestive_tract(2)|large_intestine(1)	3						c.(1033-1035)CAG>CAA		SET binding protein 1 isoform a							80.0	82.0	82.0					18																	42530340		2203	4300	6503	SO:0001819	synonymous_variant	26040	Schinzel-Giedion_syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42530340G>A	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.1035G>A	18.37:g.42530340G>A							p.Q345Q	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	1331	+			345					A6H8W5|Q6P6C3|Q9UEF3	Silent	SNP	ENST00000282030.5	37	c.1035G>A	CCDS11923.2																																																																																				0.483	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		13	35	0	0	0	0	13	35				
TRIP10	9322	broad.mit.edu	37	19	6743214	6743214	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr19:6743214G>C	ENST00000313244.9	+	5	390	c.355G>C	c.(355-357)Gaa>Caa	p.E119Q	TRIP10_ENST00000600428.1_Missense_Mutation_p.E11Q|TRIP10_ENST00000596758.1_Missense_Mutation_p.E119Q|TRIP10_ENST00000313285.8_Missense_Mutation_p.E119Q			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	119	F-BAR domain.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						GCACTTCCAAGAAGGGCGGCG	0.562																																						uc002mfs.2		NA																	0				ovary(1)	1						c.(355-357)GAA>CAA		thyroid hormone receptor interactor 10							45.0	49.0	48.0					19																	6743214		2203	4300	6503	SO:0001583	missense	9322				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding	g.chr19:6743214G>C	AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"""Cdc42-interacting protein"""	604504	"""salt tolerator"""	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.355G>C	19.37:g.6743214G>C	ENSP00000320117:p.Glu119Gln					TRIP10_uc010dux.1_Missense_Mutation_p.E119Q|TRIP10_uc002mfr.2_Missense_Mutation_p.E119Q|TRIP10_uc010duy.2_RNA|TRIP10_uc010duz.2_5'UTR	p.E119Q	NM_004240	NP_004231	Q15642	CIP4_HUMAN			5	421	+			119			Potential.|Induction of membrane tubulation.		B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Missense_Mutation	SNP	ENST00000313244.9	37	c.355G>C		.	.	.	.	.	.	.	.	.	.	G	17.36	3.371073	0.61624	.	.	ENSG00000125733	ENST00000313285;ENST00000313244;ENST00000420690	T;T	0.20200	2.09;2.09	3.74	3.74	0.42951	.	0.135064	0.48286	D	0.000196	T	0.37839	0.1018	L	0.55481	1.735	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.996;0.998	D;D;P	0.74348	0.983;0.941;0.867	T	0.13282	-1.0515	10	0.59425	D	0.04	-6.7407	10.9231	0.47176	0.0:0.0:1.0:0.0	.	119;119;119	G5E9U1;Q15642;Q15642-2	.;CIP4_HUMAN;.	Q	119	ENSP00000320493:E119Q;ENSP00000320117:E119Q	ENSP00000320117:E119Q	E	+	1	0	TRIP10	6694214	1.000000	0.71417	0.889000	0.34880	0.388000	0.30384	8.392000	0.90180	1.929000	0.55896	0.462000	0.41574	GAA		0.562	TRIP10-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000317129.2			9	16	0	0	0	0	9	16				
COL5A3	50509	broad.mit.edu	37	19	10107155	10107155	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr19:10107155A>T	ENST00000264828.3	-	13	1461	c.1376T>A	c.(1375-1377)gTc>gAc	p.V459D	CTD-2553C6.1_ENST00000592332.1_RNA	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	459	Triple-helical region.				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)			CTGGAATGAGACTGGGGGGCC	0.597																																						uc002mmq.1		NA																	0				ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10						c.(1375-1377)GTC>GAC		collagen, type V, alpha 3 preproprotein							37.0	39.0	38.0					19																	10107155		2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10107155A>T	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.1376T>A	19.37:g.10107155A>T	ENSP00000264828:p.Val459Asp						p.V459D	NM_015719	NP_056534	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		13	1462	-			459			Triple-helical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.1376T>A	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	A	10.54	1.378832	0.24944	.	.	ENSG00000080573	ENST00000264828	D	0.90133	-2.62	5.12	4.02	0.46733	.	0.792187	0.10852	U	0.627058	D	0.88325	0.6406	L	0.60455	1.87	0.45284	D	0.998281	P	0.50272	0.933	B	0.42386	0.386	D	0.84250	0.0477	10	0.26408	T	0.33	.	11.2929	0.49261	0.8373:0.1627:0.0:0.0	.	459	P25940	CO5A3_HUMAN	D	459	ENSP00000264828:V459D	ENSP00000264828:V459D	V	-	2	0	COL5A3	9968155	0.522000	0.26266	0.960000	0.40013	0.343000	0.28985	4.889000	0.63171	1.950000	0.56595	0.533000	0.62120	GTC		0.597	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		13	41	0	0	0	0	13	41				
JAK3	3718	broad.mit.edu	37	19	17942159	17942159	+	Silent	SNP	G	G	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr19:17942159G>T	ENST00000527670.1	-	20	2885	c.2856C>A	c.(2854-2856)gcC>gcA	p.A952A	JAK3_ENST00000534444.1_Silent_p.A952A|JAK3_ENST00000458235.1_Silent_p.A952A			P52333	JAK3_HUMAN	Janus kinase 3	952	Protein kinase 2. {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)	GGATGTTTCGGGCGGCCAGGT	0.652		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.(2854-2856)GCC>GCA		Janus kinase 3							111.0	100.0	104.0					19																	17942159		2203	4300	6503	SO:0001819	synonymous_variant	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.chr19:17942159G>T	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.2856C>A	19.37:g.17942159G>T						JAK3_uc010ebh.2_Intron|JAK3_uc002nho.2_Silent_p.A952A	p.A952A	NM_000215	NP_000206	P52333	JAK3_HUMAN			21	2956	-			952			Protein kinase 2.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Silent	SNP	ENST00000527670.1	37	c.2856C>A	CCDS12366.1																																																																																				0.652	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		26	107	1	0	5.77e-19	6.64e-19	26	107				
KIAA1683	80726	broad.mit.edu	37	19	18377335	18377335	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr19:18377335G>C	ENST00000600328.3	-	3	1208	c.1015C>G	c.(1015-1017)Cta>Gta	p.L339V	KIAA1683_ENST00000392413.4_Missense_Mutation_p.L339V|KIAA1683_ENST00000600359.3_Missense_Mutation_p.L293V			Q9H0B3	K1683_HUMAN	KIAA1683	339	Thr-rich.					mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GTCTGGAGTAGAGTCTTGGTG	0.567																																						uc002nin.2		NA																	0				ovary(2)	2						c.(1015-1017)CTA>GTA		KIAA1683 isoform b							69.0	64.0	66.0					19																	18377335		2203	4300	6503	SO:0001583	missense	80726					mitochondrion		g.chr19:18377335G>C	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.1015C>G	19.37:g.18377335G>C	ENSP00000470780:p.Leu339Val					KIAA1683_uc010ebn.2_Missense_Mutation_p.L339V|KIAA1683_uc010xqe.1_Missense_Mutation_p.L293V	p.L339V	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN			3	1231	-			339			Thr-rich.		B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	ENST00000600328.3	37	c.1015C>G	CCDS32958.1	.	.	.	.	.	.	.	.	.	.	G	6.669	0.491973	0.12702	.	.	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634;ENST00000358422	T;T;T	0.03607	3.94;3.95;3.87	4.34	-3.82	0.04281	.	1.328920	0.05760	N	0.604801	T	0.02688	0.0081	L	0.46157	1.445	0.09310	N	1	P;P	0.43477	0.675;0.808	B;B	0.32393	0.084;0.145	T	0.48281	-0.9049	10	0.16896	T	0.51	0.088	5.6358	0.17536	0.3511:0.0:0.5189:0.13	.	339;339	E9PDE0;Q9H0B3	.;K1683_HUMAN	V	339;339;293;338	ENSP00000376213:L339V;ENSP00000352774:L339V;ENSP00000404501:L293V	ENSP00000351198:L338V	L	-	1	2	KIAA1683	18238335	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.964000	0.03833	-0.432000	0.07297	-1.332000	0.01269	CTA		0.567	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			13	53	0	0	0	0	13	53				
ZNF383	163087	broad.mit.edu	37	19	37733511	37733511	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr19:37733511A>G	ENST00000589413.1	+	8	956	c.373A>G	c.(373-375)Agc>Ggc	p.S125G	ZNF383_ENST00000352998.3_Missense_Mutation_p.S125G|ZNF383_ENST00000590503.1_Missense_Mutation_p.S125G			Q8NA42	ZN383_HUMAN	zinc finger protein 383	125					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGAATATAGAAGCCACCTTGC	0.383																																						uc002oft.1		NA																	0				ovary(1)|skin(1)	2						c.(373-375)AGC>GGC		zinc finger protein 383							113.0	124.0	120.0					19																	37733511		2203	4300	6503	SO:0001583	missense	163087				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr19:37733511A>G	AY438646	CCDS12501.1	19q13.13	2013-01-08				ENSG00000188283		"""Zinc fingers, C2H2-type"", ""-"""	18609	protein-coding gene	gene with protein product							Standard	NM_152604		Approved	FLJ35863	uc002ofu.1	Q8NA42		ENST00000589413.1:c.373A>G	19.37:g.37733511A>G	ENSP00000464871:p.Ser125Gly					ZNF383_uc002ofs.1_Missense_Mutation_p.S60G|ZNF383_uc002ofu.1_Missense_Mutation_p.S125G	p.S125G	NM_152604	NP_689817	Q8NA42	ZN383_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		8	953	+			125					Q6X2C7	Missense_Mutation	SNP	ENST00000589413.1	37	c.373A>G	CCDS12501.1	.	.	.	.	.	.	.	.	.	.	A	0.009	-1.810048	0.00606	.	.	ENSG00000188283	ENST00000352998	T	0.06608	3.28	3.71	-0.00186	0.14032	.	0.457012	0.16273	N	0.221715	T	0.02929	0.0087	N	0.13098	0.295	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44143	-0.9347	10	0.22706	T	0.39	.	3.6814	0.08312	0.6226:0.0:0.2113:0.1661	.	125	Q8NA42	ZN383_HUMAN	G	125	ENSP00000340132:S125G	ENSP00000340132:S125G	S	+	1	0	ZNF383	42425351	0.001000	0.12720	0.115000	0.21578	0.829000	0.46940	-0.043000	0.12043	0.123000	0.18342	0.460000	0.39030	AGC		0.383	ZNF383-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458141.1	NM_152604		46	87	0	0	0	0	46	87				
SAMD4B	55095	broad.mit.edu	37	19	39860463	39860463	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr19:39860463G>A	ENST00000314471.6	+	6	1400	c.365G>A	c.(364-366)aGt>aAt	p.S122N	RN7SL566P_ENST00000467650.2_RNA|SAMD4B_ENST00000598913.1_Missense_Mutation_p.S122N|SAMD4B_ENST00000596368.1_Missense_Mutation_p.S122N	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	122					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			ATCGAGGAGAGTCGCCAGCTG	0.587																																						uc002olb.2		NA																	0					0						c.(364-366)AGT>AAT		sterile alpha motif domain containing 4B							72.0	54.0	60.0					19																	39860463		2203	4300	6503	SO:0001583	missense	55095						protein binding	g.chr19:39860463G>A		CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"""Sterile alpha motif (SAM) domain containing"""	25492	protein-coding gene	gene with protein product	"""smaug homolog B (Drosophila)"""					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9		ENST00000314471.6:c.365G>A	19.37:g.39860463G>A	ENSP00000317224:p.Ser122Asn					SAMD4B_uc002ola.2_Missense_Mutation_p.S122N	p.S122N	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		6	1400	+	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		122					A5Z0M6|Q6P194	Missense_Mutation	SNP	ENST00000314471.6	37	c.365G>A	CCDS33020.1	.	.	.	.	.	.	.	.	.	.	G	33	5.244263	0.95272	.	.	ENSG00000179134	ENST00000314471;ENST00000429637	T	0.73897	-0.79	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.78130	0.4235	M	0.76574	2.34	0.53005	D	0.999967	P;P	0.49559	0.925;0.925	P;P	0.44860	0.462;0.462	T	0.82170	-0.0590	10	0.87932	D	0	.	17.0344	0.86470	0.0:0.0:1.0:0.0	.	122;122	Q5PRF9;A5Z0M6	SMAG2_HUMAN;.	N	122	ENSP00000317224:S122N	ENSP00000317224:S122N	S	+	2	0	SAMD4B	44552303	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.649000	0.67936	2.630000	0.89119	0.561000	0.74099	AGT		0.587	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464467.1	NM_018028		9	22	0	0	0	0	9	22				
CCDC114	93233	broad.mit.edu	37	19	48800482	48800482	+	Silent	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr19:48800482G>A	ENST00000315396.7	-	14	2446	c.1764C>T	c.(1762-1764)ttC>ttT	p.F588F		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	588					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		TGGTGGAGCCGAAGGTCACGT	0.657																																						uc002pir.2		NA																	0				ovary(1)	1						c.(1762-1764)TTC>TTT		coiled-coil domain containing 114 isoform 2							61.0	54.0	57.0					19																	48800482		2203	4300	6503	SO:0001819	synonymous_variant	93233							g.chr19:48800482G>A	BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.1764C>T	19.37:g.48800482G>A						CCDC114_uc002piq.2_Silent_p.F397F|CCDC114_uc002pio.2_3'UTR	p.F588F	NM_144577	NP_653178	Q96M63	CC114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)	14	2447	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	588					Q6ZRL4|Q96M06|Q9UFG8	Silent	SNP	ENST00000315396.7	37	c.1764C>T	CCDS12714.2																																																																																				0.657	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	NM_144577		13	18	0	0	0	0	13	18				
GPR32	2854	broad.mit.edu	37	19	51273921	51273921	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr19:51273921G>A	ENST00000270590.4	+	1	201	c.64G>A	c.(64-66)Gat>Aat	p.D22N		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	22					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCTGACACGTGATCGCTCTTG	0.527																																					Esophageal Squamous(113;152 1581 5732 15840 44398)	uc010ycf.1		NA																	0				upper_aerodigestive_tract(1)	1						c.(64-66)GAT>AAT		G protein-coupled receptor 32							94.0	75.0	81.0					19																	51273921		2203	4300	6503	SO:0001583	missense	2854					integral to plasma membrane	N-formyl peptide receptor activity	g.chr19:51273921G>A	AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.64G>A	19.37:g.51273921G>A	ENSP00000270590:p.Asp22Asn						p.D22N	NM_001506	NP_001497	O75388	GPR32_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	64	+		all_neural(266;0.131)	22			Extracellular (Potential).		Q502U7|Q6NWS5	Missense_Mutation	SNP	ENST00000270590.4	37	c.64G>A	CCDS12801.1	.	.	.	.	.	.	.	.	.	.	G	5.448	0.267840	0.10349	.	.	ENSG00000142511	ENST00000270590	T	0.29655	1.56	1.71	1.71	0.24356	.	.	.	.	.	T	0.12518	0.0304	N	0.08118	0	0.09310	N	1	B	0.32893	0.389	B	0.27887	0.084	T	0.18713	-1.0328	9	0.20519	T	0.43	.	6.8745	0.24139	0.0:0.0:1.0:0.0	.	22	O75388	GPR32_HUMAN	N	22	ENSP00000270590:D22N	ENSP00000270590:D22N	D	+	1	0	GPR32	55965733	0.017000	0.18338	0.002000	0.10522	0.007000	0.05969	1.629000	0.37071	1.248000	0.43934	0.313000	0.20887	GAT		0.527	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1			11	15	0	0	0	0	11	15				
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G	rs199732634		TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S332S(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358																																						uc002qqo.2		NA																	2	Substitution - coding silent(2)		kidney(2)		0						c.(994-996)TCG>TCC		zinc finger protein 814							25.0	25.0	25.0					19																	58385762		692	1589	2281	SO:0001819	synonymous_variant	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385762C>G		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.996G>C	19.37:g.58385762C>G						ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron	p.S332S	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN			3	1268	-			332			C2H2-type 5.		A6NF35	Silent	SNP	ENST00000435989.2	37	c.996G>C	CCDS46212.1																																																																																				0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		3	5	0	0	0	0	3	5				
TPO	7173	broad.mit.edu	37	2	1460007	1460007	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:1460007G>C	ENST00000345913.4	+	7	863	c.772G>C	c.(772-774)Gac>Cac	p.D258H	TPO_ENST00000349624.3_Missense_Mutation_p.D258H|TPO_ENST00000346956.3_Missense_Mutation_p.D258H|TPO_ENST00000329066.4_Missense_Mutation_p.D258H|TPO_ENST00000382201.3_Missense_Mutation_p.D258H|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.D258H|TPO_ENST00000382198.1_Missense_Mutation_p.D258H	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	258					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGGAGGGGCTGACTGCCAGAT	0.463																																						uc002qww.2		NA																	0				ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20						c.(772-774)GAC>CAC		thyroid peroxidase isoform a	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						80.0	72.0	75.0					2																	1460007		2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1460007G>C		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.772G>C	2.37:g.1460007G>C	ENSP00000318820:p.Asp258His					TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.D258H|TPO_uc002qwr.2_Missense_Mutation_p.D258H|TPO_uc002qwx.2_Missense_Mutation_p.D258H|TPO_uc010yio.1_Missense_Mutation_p.D258H|TPO_uc010yip.1_Missense_Mutation_p.D258H	p.D258H	NM_000547	NP_000538	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	7	863	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	258			Extracellular (Potential).		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.772G>C	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353996	0.41700	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464	T;T;T;T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81	4.81	3.93	0.45458	.	0.093051	0.64402	D	0.000001	D	0.84986	0.5594	M	0.77313	2.365	0.80722	D	1	D;D;P;D	0.89917	1.0;1.0;0.919;1.0	D;D;P;D	0.80764	0.989;0.991;0.672;0.994	D	0.86089	0.1549	10	0.56958	D	0.05	-20.4229	13.336	0.60518	0.0776:0.0:0.9224:0.0	.	258;258;258;258	P07202-4;P07202-5;P07202-2;P07202	.;.;.;PERT_HUMAN	H	258;258;258;258;258;258;258;187	ENSP00000337263:D258H;ENSP00000318820:D258H;ENSP00000263886:D258H;ENSP00000332044:D258H;ENSP00000329869:D258H;ENSP00000371636:D258H;ENSP00000371633:D258H;ENSP00000405788:D187H	ENSP00000329869:D258H	D	+	1	0	TPO	1439014	1.000000	0.71417	0.267000	0.24556	0.103000	0.19146	5.784000	0.68990	1.143000	0.42306	0.563000	0.77884	GAC		0.463	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		9	40	0	0	0	0	9	40				
ALMS1	7840	broad.mit.edu	37	2	73716878	73716878	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:73716878G>C	ENST00000264448.6	+	10	7900	c.7789G>C	c.(7789-7791)Gat>Cat	p.D2597H	ALMS1_ENST00000409009.1_Missense_Mutation_p.D2555H|AC096546.1_ENST00000408160.1_RNA	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2597					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCCACAACTAGATAGACACCC	0.473																																						uc002sje.1		NA																	0				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(7795-7797)GAT>CAT		Alstrom syndrome 1							95.0	92.0	93.0					2																	73716878		1939	4129	6068	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73716878G>C	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.7789G>C	2.37:g.73716878G>C	ENSP00000264448:p.Asp2597His					ALMS1_uc002sjf.1_Missense_Mutation_p.D2555H|ALMS1_uc002sjg.2_Missense_Mutation_p.D1985H|ALMS1_uc002sjh.1_Missense_Mutation_p.D1985H	p.D2599H	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			12	7906	+			2597					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.7795G>C	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	9.290	1.050402	0.19827	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.13420	2.59;2.59	4.45	3.58	0.41010	.	0.255167	0.28161	N	0.016379	T	0.25901	0.0631	L	0.48642	1.525	0.27522	N	0.951356	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.987;0.982;0.982	T	0.01613	-1.1312	10	0.52906	T	0.07	.	8.3991	0.32574	0.1041:0.0:0.8959:0.0	.	2597;2555;2597	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	H	2555;2597	ENSP00000386627:D2555H;ENSP00000264448:D2597H	ENSP00000264448:D2597H	D	+	1	0	ALMS1	73570386	0.956000	0.32656	0.068000	0.19968	0.021000	0.10359	2.857000	0.48349	1.462000	0.47948	0.650000	0.86243	GAT		0.473	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		13	46	0	0	0	0	13	46				
CTNNA2	1496	broad.mit.edu	37	2	80085146	80085146	+	Silent	SNP	G	G	A	rs373823087		TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:80085146G>A	ENST00000402739.4	+	3	311	c.306G>A	c.(304-306)acG>acA	p.T102T	CTNNA2_ENST00000496558.1_Silent_p.T102T|CTNNA2_ENST00000540488.1_Silent_p.T102T|CTNNA2_ENST00000541047.1_Silent_p.T102T|CTNNA2_ENST00000466387.1_Silent_p.T102T|CTNNA2_ENST00000361291.4_Silent_p.T136T	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	102					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CAGGTGAGACGATGCGGATCG	0.552																																						uc010ysh.1		NA																	0				pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(304-306)ACG>ACA		catenin, alpha 2 isoform 1							91.0	89.0	90.0					2																	80085146		2050	4190	6240	SO:0001819	synonymous_variant	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80085146G>A		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.306G>A	2.37:g.80085146G>A						CTNNA2_uc010yse.1_Silent_p.T102T|CTNNA2_uc010ysf.1_Silent_p.T102T|CTNNA2_uc010ysg.1_Silent_p.T102T	p.T102T	NM_004389	NP_004380	P26232	CTNA2_HUMAN			3	311	+			102					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Silent	SNP	ENST00000402739.4	37	c.306G>A																																																																																					0.552	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		28	87	0	0	0	0	28	87				
KDM3A	55818	broad.mit.edu	37	2	86716520	86716520	+	Silent	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:86716520C>G	ENST00000409556.1	+	23	3758	c.3393C>G	c.(3391-3393)gtC>gtG	p.V1131V	KDM3A_ENST00000312912.5_Silent_p.V1131V|KDM3A_ENST00000409064.1_Silent_p.V1131V|KDM3A_ENST00000542128.1_Silent_p.V1079V			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	1131	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						ATGTCATGGTCTATGTGGGAA	0.428																																					NSCLC(96;1150 1523 6936 46253 49736)	uc002sri.3		NA																	0				breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5						c.(3391-3393)GTC>GTG		jumonji domain containing 1A							117.0	113.0	115.0					2																	86716520		2203	4300	6503	SO:0001819	synonymous_variant	55818				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:86716520C>G	AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"""Chromatin-modifying enzymes / K-demethylases"""	20815	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 2A"""	611512	"""jumonji domain containing 1"", ""jumonji domain containing 1A"""	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.3393C>G	2.37:g.86716520C>G						KDM3A_uc010ytj.1_Silent_p.V1131V|KDM3A_uc010ytk.1_Silent_p.V1079V	p.V1131V	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN			22	3720	+			1131			JmjC.		D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Silent	SNP	ENST00000409556.1	37	c.3393C>G	CCDS1990.1																																																																																				0.428	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433		20	43	0	0	0	0	20	43				
MYO7B	4648	broad.mit.edu	37	2	128394476	128394476	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:128394476C>A	ENST00000409816.2	+	45	6269	c.6237C>A	c.(6235-6237)tgC>tgA	p.C2079*	MYO7B_ENST00000409090.1_Nonsense_Mutation_p.C932*|LIMS2_ENST00000494613.1_5'Flank|MYO7B_ENST00000389524.4_Nonsense_Mutation_p.C2080*|MYO7B_ENST00000428314.1_Nonsense_Mutation_p.C2079*			Q6PIF6	MYO7B_HUMAN	myosin VIIB	2079	FERM 2. {ECO:0000255|PROSITE- ProRule:PRU00084}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCCTGCTGTGCGAGACCTCCC	0.612																																						uc002top.2		NA																	0				ovary(1)|pancreas(1)	2						c.(6235-6237)TGC>TGA		myosin VIIB							47.0	58.0	54.0					2																	128394476		2107	4229	6336	SO:0001587	stop_gained	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128394476C>A		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.6237C>A	2.37:g.128394476C>A	ENSP00000386461:p.Cys2079*					MYO7B_uc002tos.1_Nonsense_Mutation_p.C189*|MYO7B_uc002tot.2_Nonsense_Mutation_p.C189*	p.C2079*	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	46	6290	+	Colorectal(110;0.1)		2079			FERM 2.		Q14786|Q8TEE1	Nonsense_Mutation	SNP	ENST00000409816.2	37	c.6237C>A	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	c	45	11.683187	0.99591	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816;ENST00000409090	.	.	.	5.21	-5.75	0.02384	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3293	0.74193	0.0:0.5885:0.0:0.4115	.	.	.	.	X	2080;2079;2079;932	.	ENSP00000374175:C2080X	C	+	3	2	MYO7B	128110946	0.083000	0.21467	0.969000	0.41365	0.928000	0.56348	-0.659000	0.05323	-0.806000	0.04398	-0.966000	0.02617	TGC		0.612	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		3	40	1	0	0.004672	0.00488957	3	40				
THSD7B	80731	broad.mit.edu	37	2	138414381	138414381	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:138414381C>G	ENST00000409968.1	+	23	4299	c.4121C>G	c.(4120-4122)aCa>aGa	p.T1374R	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.T1377R|THSD7B_ENST00000413152.2_Missense_Mutation_p.T1346R			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1376	TSP type-1 18. {ECO:0000255|PROSITE- ProRule:PRU00210}.					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)		TGCCATTTAACAGAATGGTCA	0.473																																						uc002tva.1		NA																	0				ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(4033-4035)ACA>AGA		thrombospondin, type I, domain containing 7B							42.0	42.0	42.0					2																	138414381		1965	4154	6119	SO:0001583	missense	80731							g.chr2:138414381C>G			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.4121C>G	2.37:g.138414381C>G	ENSP00000387145:p.Thr1374Arg					THSD7B_uc010zbj.1_Intron	p.T1345R	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	22	4034	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.4034C>G		.	.	.	.	.	.	.	.	.	.	C	16.15	3.040429	0.55003	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.53423	0.62;0.62;0.62	6.17	6.17	0.99709	.	0.094510	0.64402	D	0.000001	T	0.62901	0.2466	L	0.59436	1.845	0.80722	D	1	D	0.67145	0.996	P	0.61477	0.889	T	0.50516	-0.8819	10	0.14656	T	0.56	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1346	C9JKN6	.	R	1374;1377;1346	ENSP00000387145:T1374R;ENSP00000272643:T1377R;ENSP00000413841:T1346R	ENSP00000272643:T1377R	T	+	2	0	THSD7B	138130851	0.994000	0.37717	0.055000	0.19348	0.207000	0.24258	3.133000	0.50531	2.941000	0.99782	0.655000	0.94253	ACA		0.473	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		5	32	0	0	0	0	5	32				
LRP1B	53353	broad.mit.edu	37	2	141032089	141032089	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:141032089G>A	ENST00000389484.3	-	85	14017	c.13046C>T	c.(13045-13047)aCg>aTg	p.T4349M		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4349	EGF-like 20. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCATAGCGCGTTGGACAGAC	0.423										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(13045-13047)ACG>ATG		low density lipoprotein-related protein 1B							178.0	142.0	154.0					2																	141032089		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141032089G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.13046C>T	2.37:g.141032089G>A	ENSP00000374135:p.Thr4349Met	TSP Lung(27;0.18)					p.T4349M	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	85	14018	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4349			Extracellular (Potential).|EGF-like 13.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.13046C>T	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.42|17.42	3.385090|3.385090	0.61956|0.61956	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000437977;ENST00000442974|ENST00000389484;ENST00000544579	.|D	.|0.90385	.|-2.66	5.36|5.36	3.45|3.45	0.39498|0.39498	.|Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	.|0.348752	.|0.26362	.|U	.|0.024808	T|T	0.79964|0.79964	0.4537|0.4537	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	.|B	.|0.33904	.|0.431	.|B	.|0.19391	.|0.025	T|T	0.71321|0.71321	-0.4628|-0.4628	5|10	.|0.48119	.|T	.|0.1	.|.	5.2392|5.2392	0.15462|0.15462	0.2177:0.0:0.6284:0.1539|0.2177:0.0:0.6284:0.1539	.|.	.|4349	.|Q9NZR2	.|LRP1B_HUMAN	C|M	581;81|4349;4287	.|ENSP00000374135:T4349M	.|ENSP00000374135:T4349M	R|T	-|-	1|2	0|0	LRP1B|LRP1B	140748559|140748559	0.959000|0.959000	0.32827|0.32827	0.996000|0.996000	0.52242|0.52242	0.993000|0.993000	0.82548|0.82548	2.656000|2.656000	0.46716|0.46716	1.253000|1.253000	0.44018|0.44018	0.655000|0.655000	0.94253|0.94253	CGC|ACG		0.423	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		17	32	0	0	0	0	17	32				
LRP1B	53353	broad.mit.edu	37	2	141116452	141116452	+	Missense_Mutation	SNP	G	G	A	rs373553527		TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:141116452G>A	ENST00000389484.3	-	73	12166	c.11195C>T	c.(11194-11196)tCg>tTg	p.S3732L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3732	LDL-receptor class A 31. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATTTGCTCCGACTGTAGGCA	0.388										TSP Lung(27;0.18)			G|||	1	0.000199681	0.0	0.0	5008	,	,		17117	0.0		0.0	False		,,,				2504	0.001				Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(11194-11196)TCG>TTG		low density lipoprotein-related protein 1B		G	LEU/SER	0,4406		0,0,2203	183.0	165.0	171.0		11195	2.3	0.7	2		171	1,8597	1.2+/-3.3	0,1,4298	no	missense	LRP1B	NM_018557.2	145	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign	3732/4600	141116452	1,13003	2203	4299	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141116452G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.11195C>T	2.37:g.141116452G>A	ENSP00000374135:p.Ser3732Leu	TSP Lung(27;0.18)					p.S3732L	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	73	12167	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3732			Extracellular (Potential).|LDL-receptor class A 31.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.11195C>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.581799	0.28180	0.0	1.16E-4	ENSG00000168702	ENST00000389484;ENST00000544579	T	0.57436	0.4	5.46	2.27	0.28462	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	1.019400	0.07838	N	0.962599	T	0.24547	0.0595	N	0.02916	-0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24799	-1.0150	10	0.12103	T	0.63	.	5.5478	0.17073	0.1648:0.0:0.568:0.2672	.	3732	Q9NZR2	LRP1B_HUMAN	L	3732;3670	ENSP00000374135:S3732L	ENSP00000374135:S3732L	S	-	2	0	LRP1B	140832922	0.255000	0.24002	0.742000	0.31022	0.948000	0.59901	1.483000	0.35497	0.140000	0.18849	0.591000	0.81541	TCG		0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		34	42	0	0	0	0	34	42				
TTN	7273	broad.mit.edu	37	2	179439600	179439600	+	Silent	SNP	G	G	A	rs367685557		TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:179439600G>A	ENST00000591111.1	-	276	66560	c.66336C>T	c.(66334-66336)aaC>aaT	p.N22112N	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.N14880N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000589042.1_Silent_p.N23753N|TTN_ENST00000460472.2_Silent_p.N14688N|TTN_ENST00000342992.6_Silent_p.N21185N|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.N14813N|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22112	Fibronectin type-III 60. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACCACCATCGTTCTCAGGTG	0.448																																						uc010zfg.1		NA																	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.(63553-63555)AAC>AAT		titin isoform N2-A		G	,,,	0,3822		0,0,1911	57.0	54.0	55.0		44064,63555,44439,44640	-5.3	0.9	2		55	1,8263		0,1,4131	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,6042	AA,AG,GG		0.0121,0.0,0.0083	,,,	14688/26927,21185/33424,14813/27052,14880/27119	179439600	1,12085	1911	4132	6043	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179439600G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.66336C>T	2.37:g.179439600G>A						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.N14880N|TTN_uc010zfi.1_Silent_p.N14813N|TTN_uc010zfj.1_Silent_p.N14688N	p.N21185N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	63779	-			22112					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	Silent	SNP	ENST00000591111.1	37	c.63555C>T																																																																																					0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	17	0	0	0	0	4	17				
ZSWIM2	151112	broad.mit.edu	37	2	187712479	187712479	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:187712479G>A	ENST00000295131.2	-	2	248	c.209C>T	c.(208-210)cCg>cTg	p.P70L		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	70					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P70Q(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CCCTCCTTTCGGAAATGTGGA	0.348																																						uc002upu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(208-210)CCG>CTG		zinc finger, SWIM domain containing 2							80.0	82.0	81.0					2																	187712479		2203	4300	6503	SO:0001583	missense	151112				apoptosis		zinc ion binding	g.chr2:187712479G>A	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.209C>T	2.37:g.187712479G>A	ENSP00000295131:p.Pro70Leu						p.P70L	NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)		2	249	-			70			SWIM-type.		B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	ENST00000295131.2	37	c.209C>T	CCDS33348.1	.	.	.	.	.	.	.	.	.	.	A	2.547	-0.304965	0.05495	.	.	ENSG00000163012	ENST00000295131	T	0.20598	2.06	5.41	4.24	0.50183	Zinc finger, SWIM-type (2);	0.183303	0.26307	N	0.025127	T	0.06462	0.0166	N	0.02011	-0.69	0.23138	N	0.998235	B	0.02656	0.0	B	0.01281	0.0	T	0.39761	-0.9598	10	0.11182	T	0.66	0.0382	5.7018	0.17887	0.7695:0.0:0.0815:0.149	.	70	Q8NEG5	ZSWM2_HUMAN	L	70	ENSP00000295131:P70L	ENSP00000295131:P70L	P	-	2	0	ZSWIM2	187420724	1.000000	0.71417	0.998000	0.56505	0.910000	0.53928	1.677000	0.37576	0.334000	0.23590	-0.516000	0.04426	CCG		0.348	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		25	35	0	0	0	0	25	35				
METTL21A	151194	broad.mit.edu	37	2	208478045	208478045	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:208478045T>G	ENST00000411432.1	-	4	598	c.382A>C	c.(382-384)Aat>Cat	p.N128H	METTL21A_ENST00000442521.1_Missense_Mutation_p.N128H|METTL21A_ENST00000425132.1_Intron|METTL21A_ENST00000448823.2_3'UTR|METTL21A_ENST00000406927.2_Missense_Mutation_p.N128H|METTL21A_ENST00000458426.1_Intron|METTL21A_ENST00000432416.1_Intron|METTL21A_ENST00000426075.1_Missense_Mutation_p.N128H|METTL21A_ENST00000448007.2_Missense_Mutation_p.N128H|METTL21A_ENST00000272839.3_Missense_Mutation_p.N146H|METTL21A_ENST00000477919.1_5'Flank	NM_001127395.1	NP_001120867.1	Q8WXB1	MT21A_HUMAN	methyltransferase like 21A	128					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	cytoplasm (GO:0005737)	ATPase binding (GO:0051117)|Hsp70 protein binding (GO:0030544)|protein-lysine N-methyltransferase activity (GO:0016279)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						CTCCCCAAATTTTGTCCCCAA	0.368																																						uc002vcf.2		NA																	0					0						c.(382-384)AAT>CAT		hypothetical protein LOC151194							81.0	83.0	82.0					2																	208478045		2203	4300	6503	SO:0001583	missense	151194					integral to membrane	methyltransferase activity	g.chr2:208478045T>G	AK093812, AF455817	CCDS2376.1	2q33.3	2013-09-30	2011-03-03	2011-03-03	ENSG00000144401	ENSG00000144401			30476	protein-coding gene	gene with protein product	"""Hepatocellular carcinoma-associated antigen 557b"", ""heat shock protein 70kDa lysine (K) methyltransferase"""	615257	"""family with sequence similarity 119, member A"""	FAM119A		23921388	Standard	NM_145280		Approved	LOC151194, HCA557b, HSPA-KMT	uc010fuk.1	Q8WXB1	OTTHUMG00000132934	ENST00000411432.1:c.382A>C	2.37:g.208478045T>G	ENSP00000415115:p.Asn128His					FAM119A_uc002vce.2_Intron|FAM119A_uc010fuk.1_Missense_Mutation_p.N128H|FAM119A_uc002vcg.3_Missense_Mutation_p.N128H	p.N128H	NM_145280	NP_660323	Q8WXB1	MT21A_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0705)|Epithelial(149;0.131)|Lung(261;0.135)	4	542	-			128					Q53RV0|Q8N1Z9|Q96GH6	Missense_Mutation	SNP	ENST00000411432.1	37	c.382A>C	CCDS2376.1	.	.	.	.	.	.	.	.	.	.	T	16.90	3.250398	0.59212	.	.	ENSG00000144401	ENST00000411432;ENST00000448007;ENST00000272839;ENST00000406927;ENST00000426075;ENST00000442521	T;T;T;T;T;T	0.07114	3.22;3.22;3.22;3.22;3.22;3.22	5.29	4.14	0.48551	.	0.311359	0.40554	N	0.001061	T	0.10723	0.0262	L	0.37630	1.12	0.09310	N	0.999994	D	0.61080	0.989	P	0.58077	0.832	T	0.20371	-1.0277	10	0.20046	T	0.44	-16.3826	2.8739	0.05625	0.1818:0.2175:0.0:0.6007	.	128	Q8WXB1	MT21A_HUMAN	H	128;128;146;128;128;128	ENSP00000415115:N128H;ENSP00000407622:N128H;ENSP00000272839:N146H;ENSP00000385481:N128H;ENSP00000403317:N128H;ENSP00000392062:N128H	ENSP00000272839:N146H	N	-	1	0	METTL21A	208186290	0.973000	0.33851	0.559000	0.28332	0.952000	0.60782	1.794000	0.38774	1.037000	0.40024	0.459000	0.35465	AAT		0.368	METTL21A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337044.1	NM_145280		24	33	0	0	0	0	24	33				
NYAP2	57624	broad.mit.edu	37	2	226447438	226447438	+	Silent	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:226447438C>T	ENST00000272907.6	+	4	1718	c.1305C>T	c.(1303-1305)acC>acT	p.T435T	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	435	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GTCACTCCACCTCTCCCTCCC	0.647																																						uc002voe.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1303-1305)ACC>ACT		hypothetical protein LOC57624							33.0	38.0	36.0					2																	226447438		2031	4180	6211	SO:0001819	synonymous_variant	57624							g.chr2:226447438C>T	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.1305C>T	2.37:g.226447438C>T						KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Silent_p.T205T	p.T435T	NM_020864	NP_065915	Q9P242	K1486_HUMAN		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)	4	1480	+		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)	435			Pro-rich.		A2RRN4|Q96NL2	Silent	SNP	ENST00000272907.6	37	c.1305C>T	CCDS46529.1																																																																																				0.647	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		9	12	0	0	0	0	9	12				
ALPPL2	251	broad.mit.edu	37	2	233272041	233272041	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:233272041A>G	ENST00000295453.3	+	3	282	c.230A>G	c.(229-231)cAg>cGg	p.Q77R		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	77					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	CTAAAAGGGCAGAAGAAGGAC	0.587																																						uc002vss.3		NA																	0				skin(1)	1						c.(229-231)CAG>CGG		placental-like alkaline phosphatase	Amifostine(DB01143)|Levamisole(DB00848)						107.0	103.0	104.0					2																	233272041		2203	4300	6503	SO:0001583	missense	251				phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233272041A>G	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.230A>G	2.37:g.233272041A>G	ENSP00000295453:p.Gln77Arg						p.Q77R	NM_031313	NP_112603	P10696	PPBN_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	3	283	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	77					A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	ENST00000295453.3	37	c.230A>G	CCDS2491.1	.	.	.	.	.	.	.	.	.	.	A	12.54	1.969111	0.34754	.	.	ENSG00000163286	ENST00000295453	D	0.96913	-4.17	1.98	1.98	0.26296	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.055946	0.64402	D	0.000001	D	0.97835	0.9289	M	0.88570	2.965	0.46317	D	0.998982	D	0.63046	0.992	D	0.72982	0.979	D	0.97687	1.0176	10	0.87932	D	0	.	10.3362	0.43852	1.0:0.0:0.0:0.0	.	77	P10696	PPBN_HUMAN	R	77	ENSP00000295453:Q77R	ENSP00000295453:Q77R	Q	+	2	0	ALPPL2	232980285	1.000000	0.71417	0.006000	0.13384	0.086000	0.17979	5.643000	0.67895	1.157000	0.42530	0.172000	0.16884	CAG		0.587	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		17	36	0	0	0	0	17	36				
CHRNG	1146	broad.mit.edu	37	2	233410382	233410382	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:233410382C>G	ENST00000389494.3	+	12	1531	c.1510C>G	c.(1510-1512)Cca>Gca	p.P504A	CHRNG_ENST00000389492.3_Missense_Mutation_p.P452A	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	504					muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	Galantamine(DB00674)	GCCGGCCCTGCCATTCCCTGG	0.617																																						uc002vsx.1		NA																	0					0						c.(1510-1512)CCA>GCA		cholinergic receptor, nicotinic, gamma							93.0	85.0	88.0					2																	233410382		2203	4300	6503	SO:0001583	missense	1146				muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity	g.chr2:233410382C>G	X01715	CCDS33400.1	2q37.1	2012-10-02	2012-02-07		ENSG00000196811	ENSG00000196811		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1967	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, gamma (muscle)"""	100730	"""cholinergic receptor, nicotinic, gamma"""	ACHRG			Standard	NM_005199		Approved		uc002vsx.1	P07510	OTTHUMG00000153327	ENST00000389494.3:c.1510C>G	2.37:g.233410382C>G	ENSP00000374145:p.Pro504Ala					CHRNG_uc010fye.1_Missense_Mutation_p.P452A	p.P504A	NM_005199	NP_005190	P07510	ACHG_HUMAN		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	12	1531	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	504					B3KWM8|Q14DU4|Q53RG2	Missense_Mutation	SNP	ENST00000389494.3	37	c.1510C>G	CCDS33400.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.946311	0.53079	.	.	ENSG00000196811	ENST00000389494;ENST00000541596;ENST00000389492	D;D	0.87966	-1.73;-2.32	4.53	4.53	0.55603	.	0.144300	0.47093	D	0.000247	D	0.94644	0.8273	M	0.90483	3.12	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.95940	0.8946	10	0.87932	D	0	.	17.2768	0.87118	0.0:1.0:0.0:0.0	.	452;504	Q14DU4;P07510	.;ACHG_HUMAN	A	504;504;452	ENSP00000374145:P504A;ENSP00000374143:P452A	ENSP00000374143:P452A	P	+	1	0	CHRNG	233118626	1.000000	0.71417	0.177000	0.23020	0.229000	0.25112	7.204000	0.77872	2.045000	0.60652	0.462000	0.41574	CCA		0.617	CHRNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330743.1	NM_005199		17	43	0	0	0	0	17	43				
ATG16L1	55054	broad.mit.edu	37	2	234202923	234202923	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:234202923C>T	ENST00000392017.4	+	18	2008	c.1751C>T	c.(1750-1752)gCg>gTg	p.A584V	ATG16L1_ENST00000392018.1_Missense_Mutation_p.A601V|ATG16L1_ENST00000373525.5_Missense_Mutation_p.A405V|ATG16L1_ENST00000347464.5_Missense_Mutation_p.A421V|ATG16L1_ENST00000392020.4_Missense_Mutation_p.A565V	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	584					autophagic vacuole assembly (GO:0000045)|negative stranded viral RNA replication (GO:0039689)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|axoneme (GO:0005930)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		AATGCGGTGGCGTGGTCGCCC	0.537																																						uc002vty.2		NA																	0					0						c.(1750-1752)GCG>GTG		APG16 autophagy 16-like isoform 1							104.0	93.0	97.0					2																	234202923		2203	4300	6503	SO:0001583	missense	55054				autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding	g.chr2:234202923C>T	AK000897	CCDS2502.2, CCDS2503.2, CCDS54438.1	2q37.1	2014-02-12	2012-06-06	2005-09-13	ENSG00000085978	ENSG00000085978		"""WD repeat domain containing"""	21498	protein-coding gene	gene with protein product		610767	"""APG16 autophagy 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like 1 (S. cerevisiae)"""	APG16L, ATG16L			Standard	NM_017974		Approved	WDR30, FLJ10035, ATG16A	uc002vty.3	Q676U5	OTTHUMG00000133619	ENST00000392017.4:c.1751C>T	2.37:g.234202923C>T	ENSP00000375872:p.Ala584Val					ATG16L1_uc002vtx.1_Missense_Mutation_p.A421V|ATG16L1_uc002vua.2_Missense_Mutation_p.A565V|ATG16L1_uc002vub.2_Missense_Mutation_p.A442V|ATG16L1_uc002vtz.2_Missense_Mutation_p.A405V|ATG16L1_uc002vud.3_Missense_Mutation_p.A500V	p.A584V	NM_030803	NP_110430	Q676U5	A16L1_HUMAN		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)	18	2008	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)	584			WD 7.		A3EXK9|A3EXL0|B6ZDH0|Q6IPN1|Q6UXW4|Q6ZVZ5|Q8NCY2|Q96JV5|Q9H619	Missense_Mutation	SNP	ENST00000392017.4	37	c.1751C>T	CCDS2503.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.76|16.76	3.213566|3.213566	0.58452|0.58452	.|.	.|.	ENSG00000085978|ENSG00000085978	ENST00000392017;ENST00000347464;ENST00000373525;ENST00000392020;ENST00000392018|ENST00000334050	T;T;T;T;T|.	0.63580|.	-0.05;-0.05;-0.05;-0.05;-0.05|.	5.21|5.21	5.21|5.21	0.72293|0.72293	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.211384|.	0.49916|.	D|.	0.000125|.	T|T	0.77831|0.77831	0.4189|0.4189	M|M	0.76727|0.76727	2.345|2.345	0.80722|0.80722	D|D	1|1	P;P;P;P;P|.	0.45594|.	0.862;0.628;0.775;0.789;0.812|.	P;B;B;B;B|.	0.48189|.	0.57;0.231;0.294;0.342;0.265|.	T|T	0.80303|0.80303	-0.1439|-0.1439	10|6	0.62326|0.66056	D|D	0.03|0.02	.|.	18.7495|18.7495	0.91809|0.91809	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	538;565;405;584;421|.	B7ZLM5;Q676U5-2;Q676U5-4;Q676U5;A3EXL0|.	.;.;.;A16L1_HUMAN;.|.	V|C	584;421;405;565;601|243	ENSP00000375872:A584V;ENSP00000318259:A421V;ENSP00000362625:A405V;ENSP00000375875:A565V;ENSP00000375873:A601V|.	ENSP00000318259:A421V|ENSP00000334016:R243C	A|R	+|+	2|1	0|0	ATG16L1|ATG16L1	233867662|233867662	1.000000|1.000000	0.71417|0.71417	0.916000|0.916000	0.36221|0.36221	0.040000|0.040000	0.13550|0.13550	7.221000|7.221000	0.78016|0.78016	2.438000|2.438000	0.82558|0.82558	0.591000|0.591000	0.81541|0.81541	GCG|CGT		0.537	ATG16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257069.2	NM_017974		14	25	0	0	0	0	14	25				
UGT1A7	54577	broad.mit.edu	37	2	234591112	234591112	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:234591112C>G	ENST00000373426.3	+	1	529	c.529C>G	c.(529-531)Ctt>Gtt	p.L177V	UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron	NM_019077.2	NP_061950.2	Q9HAW7	UD17_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A7	177					cellular glucuronidation (GO:0052695)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|excretion (GO:0007588)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	drug binding (GO:0008144)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|retinoic acid binding (GO:0001972)			NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)	TTGCCACTATCTTGAAGAAGG	0.483																																						uc002vut.2		NA																	0				ovary(1)	1						c.(529-531)CTT>GTT		UDP glycosyltransferase 1 family, polypeptide A7							158.0	165.0	162.0					2																	234591112		2203	4300	6503	SO:0001583	missense	54577				drug metabolic process|negative regulation of fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	drug binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|retinoic acid binding	g.chr2:234591112C>G	U39570	CCDS2506.1	2q37	2010-03-05	2005-07-20		ENSG00000244122	ENSG00000244122		"""UDP glucuronosyltransferases"""	12539	other	complex locus constituent		606432	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 11434514	Standard	NM_019077		Approved	UGT1G		Q9HAW7	OTTHUMG00000059004	ENST00000373426.3:c.529C>G	2.37:g.234591112C>G	ENSP00000362525:p.Leu177Val					UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Missense_Mutation_p.L177V	p.L177V	NM_019077	NP_061950	Q9HAW7	UD17_HUMAN		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	1	529	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)	177					B8K293|O00473	Missense_Mutation	SNP	ENST00000373426.3	37	c.529C>G	CCDS2506.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.13|10.13	1.264557|1.264557	0.23136|0.23136	.|.	.|.	ENSG00000244122|ENSG00000244122	ENST00000485022|ENST00000373426	.|T	.|0.59906	.|0.23	4.01|4.01	2.13|2.13	0.27403|0.27403	.|.	.|.	.|.	.|.	.|.	T|T	0.42291|0.42291	0.1196|0.1196	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	.|B;B	.|0.24258	.|0.1;0.1	.|B;B	.|0.28305	.|0.088;0.088	T|T	0.30563|0.30563	-0.9974|-0.9974	5|9	.|0.11182	.|T	.|0.66	.|.	3.4993|3.4993	0.07666|0.07666	0.1357:0.4471:0.3175:0.0996|0.1357:0.4471:0.3175:0.0996	.|.	.|177;177	.|Q5DSZ7;Q9HAW7	.|.;UD17_HUMAN	M|V	33|177	.|ENSP00000362525:L177V	.|ENSP00000362525:L177V	I|L	+|+	3|1	3|0	UGT1A7|UGT1A7	234255851|234255851	0.046000|0.046000	0.20272|0.20272	0.188000|0.188000	0.23233|0.23233	0.832000|0.832000	0.47134|0.47134	0.705000|0.705000	0.25675|0.25675	0.439000|0.439000	0.26476|0.26476	0.491000|0.491000	0.48974|0.48974	ATC|CTT		0.483	UGT1A7-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130614.1	NM_019077		56	100	0	0	0	0	56	100				
C20orf194	25943	broad.mit.edu	37	20	3311319	3311319	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr20:3311319G>T	ENST00000252032.9	-	12	1141	c.1074C>A	c.(1072-1074)agC>agA	p.S358R	C20orf194_ENST00000453730.2_Missense_Mutation_p.S97R	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	358										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TGGGCAGCTTGCTGTCACCAC	0.388																																						uc002wii.2		NA																	0					0						c.(1072-1074)AGC>AGA		hypothetical protein LOC25943							71.0	68.0	69.0					20																	3311319		1897	4135	6032	SO:0001583	missense	25943							g.chr20:3311319G>T	AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.1074C>A	20.37:g.3311319G>T	ENSP00000252032:p.Ser358Arg					C20orf194_uc002wij.3_Missense_Mutation_p.S97R|C20orf194_uc002wik.2_Missense_Mutation_p.S32R|C20orf194_uc010gay.1_RNA	p.S358R	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN			12	1125	-			358					Q66K86|Q6P2R9|Q9UFX9	Missense_Mutation	SNP	ENST00000252032.9	37	c.1074C>A	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	G	4.680	0.126388	0.08931	.	.	ENSG00000088854	ENST00000252032;ENST00000453730	T;T	0.32023	2.27;1.47	5.37	-0.347	0.12617	.	1.072930	0.07130	N	0.845341	T	0.18257	0.0438	N	0.22421	0.69	0.09310	N	1	B;B	0.22211	0.066;0.066	B;B	0.18871	0.023;0.014	T	0.30794	-0.9966	10	0.20519	T	0.43	.	6.6887	0.23160	0.3773:0.1262:0.4964:0.0	.	97;358	Q0IIP3;Q5TEA3	.;CT194_HUMAN	R	358;97	ENSP00000252032:S358R;ENSP00000407229:S97R	ENSP00000252032:S358R	S	-	3	2	C20orf194	3259319	0.023000	0.18921	0.080000	0.20451	0.056000	0.15407	-0.013000	0.12678	0.023000	0.15187	0.655000	0.94253	AGC		0.388	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984		7	17	1	0	0.00307968	0.00325501	7	17				
DOCK3	1795	broad.mit.edu	37	3	51317591	51317591	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr3:51317591T>C	ENST00000266037.9	+	27	2901	c.2878T>C	c.(2878-2880)Ttc>Ctc	p.F960L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	960					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TGACACCCATTTCCAGCACCT	0.532																																						uc011bds.1		NA																	0					0						c.(2878-2880)TTC>CTC		dedicator of cytokinesis 3							75.0	77.0	76.0					3																	51317591		2089	4218	6307	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51317591T>C	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.2878T>C	3.37:g.51317591T>C	ENSP00000266037:p.Phe960Leu						p.F960L	NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	27	2901	+			960					O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.2878T>C	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.277647	0.80692	.	.	ENSG00000088538	ENST00000266037	T	0.60797	0.16	5.46	5.46	0.80206	.	0.394150	0.30260	N	0.010027	T	0.54951	0.1890	L	0.50333	1.59	0.53005	D	0.999963	B	0.18968	0.032	B	0.26094	0.066	T	0.51325	-0.8720	10	0.36615	T	0.2	.	15.5413	0.76052	0.0:0.0:0.0:1.0	.	960	Q8IZD9	DOCK3_HUMAN	L	960	ENSP00000266037:F960L	ENSP00000266037:F960L	F	+	1	0	DOCK3	51292631	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.948000	0.87774	2.063000	0.61619	0.533000	0.62120	TTC		0.532	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		10	17	0	0	0	0	10	17				
DENND6A	201627	broad.mit.edu	37	3	57658127	57658127	+	Splice_Site	SNP	T	T	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr3:57658127T>C	ENST00000311128.5	-	2	346	c.276A>G	c.(274-276)gaA>gaG	p.E92E		NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	92					positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										TTTTACTTACTTCTCTGTCAG	0.254																																						uc003dja.2		NA																	0				pancreas(1)	1						c.(274-276)GAA>GAG		hypothetical protein LOC201627							50.0	54.0	53.0					3																	57658127		2194	4297	6491	SO:0001630	splice_region_variant	201627							g.chr3:57658127T>C	AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839		"""DENN/MADD domain containing"""	26635	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member A"""	FAM116A		21330364	Standard	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.276+1A>G	3.37:g.57658127T>C							p.E92E	NM_152678	NP_689891	Q8IWF6	F116A_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607)	2	347	-			92					Q7Z5T4|Q8N235|Q8TEG8	Silent	SNP	ENST00000311128.5	37	c.276A>G	CCDS33773.1																																																																																				0.254	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351594.1	NM_152678	Silent	39	13	0	0	0	0	39	13				
ROBO2	6092	broad.mit.edu	37	3	77600053	77600053	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr3:77600053C>G	ENST00000461745.1	+	8	2044	c.1144C>G	c.(1144-1146)Caa>Gaa	p.Q382E	ROBO2_ENST00000487694.3_Missense_Mutation_p.Q398E|ROBO2_ENST00000332191.8_Missense_Mutation_p.Q382E	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	382	Ig-like C2-type 4.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CACCAACATTCAACGTTCCGA	0.488																																						uc003dpy.3		NA																	0				lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11						c.(1144-1146)CAA>GAA		roundabout, axon guidance receptor, homolog 2							92.0	90.0	91.0					3																	77600053		1947	4142	6089	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77600053C>G	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1144C>G	3.37:g.77600053C>G	ENSP00000417164:p.Gln382Glu					ROBO2_uc003dpz.2_Missense_Mutation_p.Q386E|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.Q386E	p.Q382E	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	8	1787	+			382			Ig-like C2-type 4.|Extracellular (Potential).		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.1144C>G	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.329313	0.60743	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.65916	-0.18;-0.18;-0.18	5.49	5.49	0.81192	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.43579	D	0.000556	T	0.72285	0.3441	L	0.40543	1.245	0.37903	D	0.931110	D;D;D	0.58620	0.97;0.962;0.983	P;P;D	0.66497	0.9;0.839;0.944	T	0.68930	-0.5279	9	0.37606	T	0.19	.	19.7188	0.96134	0.0:1.0:0.0:0.0	.	398;382;382	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	E	398;398;402;382;382;103	ENSP00000417335:Q398E;ENSP00000417164:Q382E;ENSP00000327536:Q382E	ENSP00000327536:Q382E	Q	+	1	0	ROBO2	77682743	1.000000	0.71417	0.990000	0.47175	0.050000	0.14768	7.776000	0.85560	2.742000	0.94016	0.591000	0.81541	CAA		0.488	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		16	34	0	0	0	0	16	34				
SLC15A2	6565	broad.mit.edu	37	3	121646672	121646672	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr3:121646672G>C	ENST00000489711.1	+	14	1580	c.1192G>C	c.(1192-1194)Gag>Cag	p.E398Q	SLC15A2_ENST00000295605.2_Missense_Mutation_p.E367Q	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	398					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	GGCAGCTGTAGAGATAAAAAT	0.388																																						uc003eep.2		NA																	0				skin(1)	1						c.(1192-1194)GAG>CAG		peptide transporter 2 isoform a	Cefadroxil(DB01140)						77.0	76.0	76.0					3																	121646672		2203	4300	6503	SO:0001583	missense	6565				protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding	g.chr3:121646672G>C	BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"""Solute carriers"""	10921	protein-coding gene	gene with protein product		602339	"""solute carrier family 15 (H+/peptide transporter), member 2"""			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.1192G>C	3.37:g.121646672G>C	ENSP00000417085:p.Glu398Gln					SLC15A2_uc011bjn.1_Missense_Mutation_p.E367Q	p.E398Q	NM_021082	NP_066568	Q16348	S15A2_HUMAN		GBM - Glioblastoma multiforme(114;0.0967)	14	1345	+			398			Helical; (Potential).		A8K1A5|B4E2A7	Missense_Mutation	SNP	ENST00000489711.1	37	c.1192G>C	CCDS3007.1	.	.	.	.	.	.	.	.	.	.	G	9.319	1.057526	0.19907	.	.	ENSG00000163406	ENST00000489711;ENST00000542599;ENST00000295605	T;T	0.03663	3.85;3.85	5.04	4.15	0.48705	.	0.045054	0.85682	N	0.000000	T	0.05686	0.0149	L	0.37507	1.11	0.58432	D	0.999993	P;P	0.50710	0.938;0.526	P;B	0.51415	0.669;0.359	T	0.43972	-0.9358	10	0.07325	T	0.83	-11.3353	13.1653	0.59567	0.0:0.1617:0.8383:0.0	.	367;398	B4E2A7;Q16348	.;S15A2_HUMAN	Q	398;360;367	ENSP00000417085:E398Q;ENSP00000295605:E367Q	ENSP00000295605:E367Q	E	+	1	0	SLC15A2	123129362	1.000000	0.71417	0.995000	0.50966	0.924000	0.55760	1.504000	0.35726	1.335000	0.45486	0.655000	0.94253	GAG		0.388	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1	NM_021082		15	43	0	0	0	0	15	43				
DHX36	170506	broad.mit.edu	37	3	154022638	154022638	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr3:154022638C>A	ENST00000496811.1	-	8	1172	c.1092G>T	c.(1090-1092)ttG>ttT	p.L364F	DHX36_ENST00000308361.6_Missense_Mutation_p.L364F|DHX36_ENST00000329463.5_Missense_Mutation_p.L364F|DHX36_ENST00000544526.1_Missense_Mutation_p.L364F	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	364	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTGCACTCATCAATATTACTT	0.289																																						uc003ezy.3		NA																	0				skin(1)	1						c.(1090-1092)TTG>TTT		DEAH (Asp-Glu-Ala-His) box polypeptide 36							38.0	38.0	38.0					3																	154022638		2203	4299	6502	SO:0001583	missense	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154022638C>A	AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.1092G>T	3.37:g.154022638C>A	ENSP00000417078:p.Leu364Phe					DHX36_uc010hvq.2_Missense_Mutation_p.L364F|DHX36_uc003ezz.3_Missense_Mutation_p.L364F	p.L364F	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		8	1173	-			364			Helicase ATP-binding.		B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	ENST00000496811.1	37	c.1092G>T	CCDS3171.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.623173	0.66901	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	T;T;T;T;T	0.12361	2.69;2.69;2.69;2.69;2.69	5.9	3.1	0.35709	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.46054	0.1373	H	0.95539	3.685	0.54753	D	0.999981	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.51679	-0.8675	10	0.87932	D	0	.	9.3828	0.38325	0.0:0.7503:0.1194:0.1303	.	364;364;364	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	F	364;364;364;364;278	ENSP00000417078:L364F;ENSP00000309296:L364F;ENSP00000444247:L364F;ENSP00000330113:L364F;ENSP00000419862:L278F	ENSP00000309296:L364F	L	-	3	2	DHX36	155505332	0.991000	0.36638	0.922000	0.36590	0.956000	0.61745	0.230000	0.17852	0.378000	0.24764	-0.140000	0.14226	TTG		0.289	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		10	78	1	0	0.000978159	0.00103899	10	78				
IFT80	57560	broad.mit.edu	37	3	159997002	159997002	+	Silent	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr3:159997002C>G	ENST00000326448.7	-	16	2247	c.1815G>C	c.(1813-1815)gtG>gtC	p.V605V	IFT80_ENST00000483465.1_Silent_p.V468V|RP11-432B6.3_ENST00000483754.1_Silent_p.V776V|IFT80_ENST00000496589.1_Silent_p.V468V	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	605					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GACAAAGTCTCACAGCATCTT	0.343																																						uc011boy.1		NA																	0				ovary(1)	1						c.(1813-1815)GTG>GTC		WD repeat domain 56							87.0	83.0	85.0					3																	159997002		2203	4300	6503	SO:0001819	synonymous_variant	57560					cilium axoneme|microtubule basal body		g.chr3:159997002C>G	AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29262	protein-coding gene	gene with protein product		611177	"""WD repeat domain 56"", ""intraflagellar transport 80 homolog (Chlamydomonas)"""	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.1815G>C	3.37:g.159997002C>G						IFT80_uc003fda.2_RNA|IFT80_uc003fdb.1_Silent_p.V468V|IFT80_uc003fdd.1_Silent_p.V288V|IFT80_uc003fde.1_Silent_p.V468V	p.V605V	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		16	2248	-			605					B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Silent	SNP	ENST00000326448.7	37	c.1815G>C	CCDS3188.1																																																																																				0.343	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352651.2	NM_020800		13	117	0	0	0	0	13	117				
SMC4	10051	broad.mit.edu	37	3	160141353	160141353	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr3:160141353C>G	ENST00000357388.3	+	14	2611	c.2160C>G	c.(2158-2160)aaC>aaG	p.N720K	SMC4_ENST00000462787.1_Missense_Mutation_p.N720K|SMC4_ENST00000469762.1_Missense_Mutation_p.N695K|SMC4_ENST00000344722.5_Missense_Mutation_p.N720K|SMC4_ENST00000360111.2_Missense_Mutation_p.N720K|RP11-432B6.3_ENST00000483754.1_Intron	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	720	Flexible hinge.				kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TAGCTGACAACTTGGATCAAG	0.343																																						uc003fdh.2		NA																	0				ovary(1)|breast(1)	2						c.(2158-2160)AAC>AAG		SMC4 structural maintenance of chromosomes							161.0	173.0	169.0					3																	160141353		2203	4300	6503	SO:0001583	missense	10051				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	g.chr3:160141353C>G	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.2160C>G	3.37:g.160141353C>G	ENSP00000349961:p.Asn720Lys					IFT80_uc003fda.2_Intron|SMC4_uc010hwc.1_Missense_Mutation_p.N484K|SMC4_uc003fdi.2_Missense_Mutation_p.N695K|SMC4_uc003fdj.2_Missense_Mutation_p.N720K|SMC4_uc010hwd.2_Missense_Mutation_p.N720K|SMC4_uc003fdl.2_Missense_Mutation_p.N423K	p.N720K	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		14	2273	+			720			Flexible hinge.		A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	ENST00000357388.3	37	c.2160C>G	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.033827	0.54896	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	D;D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18;-2.18	5.87	2.11	0.27256	SMCs flexible hinge (3);RecF/RecN/SMC (1);	0.168982	0.64402	D	0.000005	D	0.89684	0.6786	M	0.88181	2.935	0.40719	D	0.982641	B;P;P;P	0.36199	0.349;0.534;0.477;0.543	B;B;B;B	0.43867	0.182;0.434;0.198;0.277	D	0.87378	0.2355	10	0.72032	D	0.01	-16.8129	8.8491	0.35188	0.0:0.6483:0.0:0.3516	.	720;695;695;720	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	K	720;720;695;720;720;314	ENSP00000349961:N720K;ENSP00000353225:N720K;ENSP00000417964:N695K;ENSP00000420734:N720K;ENSP00000341382:N720K	ENSP00000341382:N720K	N	+	3	2	SMC4	161624047	1.000000	0.71417	0.994000	0.49952	0.983000	0.72400	2.582000	0.46085	0.109000	0.17891	-0.781000	0.03364	AAC		0.343	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1			53	389	0	0	0	0	53	389				
SLITRK3	22865	broad.mit.edu	37	3	164905937	164905937	+	Silent	SNP	G	G	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr3:164905937G>T	ENST00000475390.1	-	2	3125	c.2682C>A	c.(2680-2682)ccC>ccA	p.P894P	SLITRK3_ENST00000241274.3_Silent_p.P894P			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	894					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCACTGTGCAGGGGGCAGGCT	0.552										HNSCC(40;0.11)																												uc003fej.3		NA																	0				ovary(6)|skin(3)|pancreas(1)	10						c.(2680-2682)CCC>CCA		slit and trk like 3 protein precursor							58.0	57.0	58.0					3																	164905937		2203	4300	6503	SO:0001819	synonymous_variant	22865					integral to membrane		g.chr3:164905937G>T	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2682C>A	3.37:g.164905937G>T		HNSCC(40;0.11)				SLITRK3_uc003fek.2_Silent_p.P894P	p.P894P	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	3126	-			894			Cytoplasmic (Potential).		Q1RMY6	Silent	SNP	ENST00000475390.1	37	c.2682C>A	CCDS3197.1																																																																																				0.552	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		44	59	1	0	1.75e-18	2.01e-18	44	59				
ZNF639	51193	broad.mit.edu	37	3	179052100	179052100	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr3:179052100C>G	ENST00000326361.3	+	7	1793	c.1348C>G	c.(1348-1350)Cta>Gta	p.L450V	ZNF639_ENST00000496856.1_Missense_Mutation_p.L450V|ZNF639_ENST00000484866.1_Missense_Mutation_p.L450V	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	450	Interaction with CTNNA2.				negative regulation by host of viral transcription (GO:0043922)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|transcription, DNA-templated (GO:0006351)|viral entry into host cell (GO:0046718)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein self-association (GO:0043621)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TAAAATTCATCTAGATTTCAA	0.323																																						uc003fjq.1		NA																	0					0						c.(1348-1350)CTA>GTA		zinc finger protein 639							62.0	62.0	62.0					3																	179052100		2200	4298	6498	SO:0001583	missense	51193				initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr3:179052100C>G	BC020500	CCDS3227.1	3q27.1	2010-03-26			ENSG00000121864	ENSG00000121864		"""Zinc fingers, C2H2-type"""	30950	protein-coding gene	gene with protein product	"""zinc finger amplified in esophageal squamous cell carcinomas 1"""					14522885	Standard	NM_016331		Approved	ANC-2H01, ZASC1	uc003fjr.1	Q9UID6	OTTHUMG00000157439	ENST00000326361.3:c.1348C>G	3.37:g.179052100C>G	ENSP00000325634:p.Leu450Val					ZNF639_uc003fjr.1_Missense_Mutation_p.L450V	p.L450V	NM_016331	NP_057415	Q9UID6	ZN639_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		6	1691	+	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		450			Interaction with CTNNA2.|C2H2-type 7.		A9X3Z9|D3DNR3	Missense_Mutation	SNP	ENST00000326361.3	37	c.1348C>G	CCDS3227.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.400897	0.42613	.	.	ENSG00000121864	ENST00000496856;ENST00000326361;ENST00000484866	T;T;T	0.03860	3.78;3.78;3.78	6.08	4.3	0.51218	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000028	T	0.04182	0.0116	L	0.33668	1.02	0.33983	D	0.648247	B	0.32781	0.384	B	0.30179	0.112	T	0.39099	-0.9630	10	0.32370	T	0.25	.	8.8078	0.34950	0.0:0.7021:0.0:0.2979	.	450	Q9UID6	ZN639_HUMAN	V	450	ENSP00000417740:L450V;ENSP00000325634:L450V;ENSP00000418766:L450V	ENSP00000325634:L450V	L	+	1	2	ZNF639	180534794	0.968000	0.33430	0.999000	0.59377	0.997000	0.91878	0.282000	0.18829	0.904000	0.36572	0.655000	0.94253	CTA		0.323	ZNF639-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348855.1	NM_016331		32	162	0	0	0	0	32	162				
YEATS2	55689	broad.mit.edu	37	3	183493712	183493712	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr3:183493712C>G	ENST00000305135.5	+	18	2573	c.2378C>G	c.(2377-2379)tCt>tGt	p.S793C		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	793					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GATCTCCAGTCTGGCTCAGCT	0.522																																						uc003fly.2		NA																	0				ovary(3)|large_intestine(1)	4						c.(2377-2379)TCT>TGT		YEATS domain containing 2							86.0	87.0	87.0					3																	183493712		1981	4167	6148	SO:0001583	missense	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183493712C>G	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.2378C>G	3.37:g.183493712C>G	ENSP00000306983:p.Ser793Cys					YEATS2_uc003flz.2_5'UTR	p.S793C	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		18	2573	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		793					A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	c.2378C>G	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.236908	0.58886	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.59502	0.26	5.08	5.08	0.68730	.	0.883150	0.09979	N	0.731231	T	0.66056	0.2751	N	0.24115	0.695	0.37897	D	0.930916	D	0.76494	0.999	D	0.77557	0.99	T	0.65886	-0.6059	10	0.72032	D	0.01	0.7779	14.6973	0.69132	0.0:1.0:0.0:0.0	.	793	Q9ULM3	YETS2_HUMAN	C	793	ENSP00000306983:S793C	ENSP00000306983:S793C	S	+	2	0	YEATS2	184976406	0.989000	0.36119	0.994000	0.49952	0.736000	0.42039	3.686000	0.54685	2.730000	0.93505	0.650000	0.86243	TCT		0.522	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		20	146	0	0	0	0	20	146				
CHRD	8646	broad.mit.edu	37	3	184102418	184102418	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr3:184102418G>T	ENST00000204604.1	+	13	1780	c.1534G>T	c.(1534-1536)Gac>Tac	p.D512Y	CHRD_ENST00000450923.1_Missense_Mutation_p.D512Y|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000348986.3_Missense_Mutation_p.D472Y|CHRD_ENST00000545352.1_Missense_Mutation_p.D142Y	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	512	CHRD 3. {ECO:0000255|PROSITE- ProRule:PRU00230}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGACTTCCCAGACGGAGAGCT	0.637																																						uc003fov.2		NA																	0				skin(2)|ovary(1)	3						c.(1534-1536)GAC>TAC		chordin precursor							67.0	63.0	64.0					3																	184102418		2203	4300	6503	SO:0001583	missense	8646				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	g.chr3:184102418G>T	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.1534G>T	3.37:g.184102418G>T	ENSP00000204604:p.Asp512Tyr					CHRD_uc003fow.2_Missense_Mutation_p.D142Y|CHRD_uc003fox.2_Missense_Mutation_p.D512Y|CHRD_uc003foy.2_Missense_Mutation_p.D142Y|CHRD_uc010hyc.2_Missense_Mutation_p.D102Y|CHRD_uc011brr.1_Missense_Mutation_p.D142Y	p.D512Y	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		13	1780	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		512			CHRD 3.		O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	c.1534G>T	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359522	0.82353	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000545352;ENST00000342610	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.23	5.23	0.72850	CHRD (3);	0.209181	0.48286	D	0.000184	T	0.62344	0.2420	L	0.44542	1.39	0.80722	D	1	P;D;P;D	0.71674	0.947;0.995;0.951;0.998	P;P;P;D	0.71656	0.863;0.904;0.793;0.974	T	0.63359	-0.6655	10	0.72032	D	0.01	-6.5803	18.2536	0.90012	0.0:0.0:1.0:0.0	.	142;472;512;512	B7Z6F4;Q9H2X0-5;E7ESX1;Q9H2X0	.;.;.;CHRD_HUMAN	Y	512;512;472;142;225	ENSP00000204604:D512Y;ENSP00000408972:D512Y;ENSP00000334036:D472Y;ENSP00000442948:D142Y	ENSP00000204604:D512Y	D	+	1	0	CHRD	185585112	1.000000	0.71417	0.892000	0.35008	0.849000	0.48306	8.798000	0.91888	2.824000	0.97209	0.655000	0.94253	GAC		0.637	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741		23	90	1	0	1.5e-11	1.69e-11	23	90				
PAK2	5062	broad.mit.edu	37	3	196530019	196530019	+	Silent	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr3:196530019G>C	ENST00000327134.3	+	4	742	c.420G>C	c.(418-420)ctG>ctC	p.L140L		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	140					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		AGAAATATCTGAGCTTTACTC	0.418																																						uc003fwy.3		NA																	0				ovary(1)|lung(1)	2						c.(418-420)CTG>CTC		p21-activated kinase 2							87.0	81.0	83.0					3																	196530019		2203	4300	6503	SO:0001819	synonymous_variant	5062				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity	g.chr3:196530019G>C	U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"""S6/H4 kinase"""	605022	"""p21 (CDKN1A)-activated kinase 2"""			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.420G>C	3.37:g.196530019G>C							p.L140L	NM_002577	NP_002568	Q13177	PAK2_HUMAN	Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)	4	742	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		140					Q13154|Q6ISC3	Silent	SNP	ENST00000327134.3	37	c.420G>C	CCDS3321.1																																																																																				0.418	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577		16	113	0	0	0	0	16	113				
KIT	3815	broad.mit.edu	37	4	55594190	55594190	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr4:55594190G>C	ENST00000288135.5	+	13	1990	c.1893G>C	c.(1891-1893)ttG>ttC	p.L631F		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	631	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTGCCCATTTGACAGAACGGG	0.438		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													uc010igr.2		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	Mis|O	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		GIST|epithelioma	GIST|AML|TGCT|mastocytosis|mucosal melanoma		0				soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118						c.(1891-1893)TTG>TTC		v-kit Hardy-Zuckerman 4 feline sarcoma viral	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						143.0	131.0	135.0					4																	55594190		2203	4300	6503	SO:0001583	missense	3815	Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55594190G>C	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1893G>C	4.37:g.55594190G>C	ENSP00000288135:p.Leu631Phe					KIT_uc010igs.2_Missense_Mutation_p.L627F|KIT_uc010igt.1_Missense_Mutation_p.L80F	p.L631F	NM_000222	NP_000213	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	13	1980	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		631			Protein kinase.|Cytoplasmic (Potential).		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.1893G>C	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	A	6.619	0.482544	0.12581	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.82803	-1.65;-1.65	6.06	1.1	0.20463	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.47455	D	0.000229	T	0.70237	0.3201	N	0.25426	0.745	0.38278	D	0.94234	B;B;B	0.23377	0.002;0.016;0.084	B;B;B	0.28709	0.003;0.019;0.093	T	0.60429	-0.7265	10	0.52906	T	0.07	.	6.3252	0.21239	0.4066:0.2382:0.3551:0.0	.	138;627;631	D5MAV8;P10721-2;P10721	.;.;KIT_HUMAN	F	631;627	ENSP00000288135:L631F;ENSP00000390987:L627F	ENSP00000288135:L631F	L	+	3	2	KIT	55288947	0.978000	0.34361	0.191000	0.23289	0.097000	0.18754	0.315000	0.19451	-0.037000	0.13646	-0.254000	0.11334	TTG		0.438	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			5	71	0	0	0	0	5	71				
CENPC	1060	broad.mit.edu	37	4	68385088	68385088	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr4:68385088G>A	ENST00000273853.6	-	6	714	c.464C>T	c.(463-465)tCc>tTc	p.S155F		NM_001812.2	NP_001803.2	Q03188	CENPC_HUMAN	centromere protein C	155					chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	centromeric DNA binding (GO:0019237)|DNA binding (GO:0003677)										TGAGCCAACGGATAAGTAAAA	0.343																																						uc003hdd.1		NA																	0				urinary_tract(1)|lung(1)	2						c.(463-465)TCC>TTC		centromere protein C 1							112.0	101.0	104.0					4																	68385088		1818	4103	5921	SO:0001583	missense	1060				mitotic prometaphase	condensed chromosome kinetochore|condensed nuclear chromosome, centromeric region|cytosol	DNA binding	g.chr4:68385088G>A	M95724	CCDS47063.1	4q13.2	2013-11-05	2013-07-03	2013-07-03	ENSG00000145241	ENSG00000145241			1854	protein-coding gene	gene with protein product		117141	"""centromere protein C 1"""	CENPC1		7959789	Standard	XR_245245		Approved	CENP-C, hcp-4, MIF2	uc003hdd.1	Q03188	OTTHUMG00000160735	ENST00000273853.6:c.464C>T	4.37:g.68385088G>A	ENSP00000273853:p.Ser155Phe					CENPC1_uc010ihj.1_RNA|CENPC1_uc010ihk.1_RNA|CENPC1_uc010ihm.1_Missense_Mutation_p.S155F	p.S155F	NM_001812	NP_001803	Q03188	CENPC_HUMAN			6	647	-			155					Q8IW27|Q9P0M5	Missense_Mutation	SNP	ENST00000273853.6	37	c.464C>T	CCDS47063.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.650547	0.47362	.	.	ENSG00000145241	ENST00000273853	.	.	.	4.95	4.1	0.47936	.	0.402704	0.21505	N	0.073468	T	0.54431	0.1858	L	0.54323	1.7	0.24609	N	0.993732	D;D	0.71674	0.998;0.998	P;P	0.61940	0.896;0.896	T	0.47661	-0.9100	9	0.66056	D	0.02	-4.4806	11.3976	0.49851	0.0:0.1813:0.8187:0.0	.	155;155	Q8IW27;Q03188	.;CENPC_HUMAN	F	155	.	ENSP00000273853:S155F	S	-	2	0	CENPC1	68067683	0.998000	0.40836	0.998000	0.56505	0.440000	0.31957	2.580000	0.46068	1.260000	0.44134	0.591000	0.81541	TCC		0.343	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362001.2			23	83	0	0	0	0	23	83				
PRDM8	56978	broad.mit.edu	37	4	81122461	81122461	+	Silent	SNP	A	A	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr4:81122461A>C	ENST00000504452.1	+	7	1076	c.237A>C	c.(235-237)gcA>gcC	p.A79A	PRDM8_ENST00000415738.2_Silent_p.A79A|PRDM8_ENST00000339711.4_Silent_p.A79A			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	79	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						CCTCAGCAGCAAATGGTTCCT	0.478																																						uc010ijo.2		NA																	0				skin(1)	1						c.(235-237)GCA>GCC		PR domain containing 8							49.0	49.0	49.0					4																	81122461		1890	4102	5992	SO:0001819	synonymous_variant	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81122461A>C	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.237A>C	4.37:g.81122461A>C						PRDM8_uc003hmb.3_Silent_p.A79A|PRDM8_uc003hmc.3_Silent_p.A79A	p.A79A	NM_020226	NP_064611	Q9NQV8	PRDM8_HUMAN			7	1076	+			79			SET.		A8K7X2|Q6IQ36	Silent	SNP	ENST00000504452.1	37	c.237A>C	CCDS43243.1																																																																																				0.478	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			9	18	0	0	0	0	9	18				
PRDM8	56978	broad.mit.edu	37	4	81123227	81123227	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr4:81123227G>A	ENST00000504452.1	+	8	1450	c.611G>A	c.(610-612)gGc>gAc	p.G204D	PRDM8_ENST00000415738.2_Missense_Mutation_p.G204D|PRDM8_ENST00000339711.4_Missense_Mutation_p.G204D			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	204	Gly-rich.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						gaccacgggggcggcggcggc	0.652											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010ijo.2		NA																	0				skin(1)	1						c.(610-612)GGC>GAC		PR domain containing 8							29.0	36.0	34.0					4																	81123227		2000	4173	6173	SO:0001583	missense	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81123227G>A	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.611G>A	4.37:g.81123227G>A	ENSP00000423985:p.Gly204Asp		OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1203	PRDM8_uc003hmb.3_Missense_Mutation_p.G204D|PRDM8_uc003hmc.3_Missense_Mutation_p.G204D	p.G204D	NM_020226	NP_064611	Q9NQV8	PRDM8_HUMAN			8	1450	+			204			Gly-rich.		A8K7X2|Q6IQ36	Missense_Mutation	SNP	ENST00000504452.1	37	c.611G>A	CCDS43243.1	.	.	.	.	.	.	.	.	.	.	G	0.127	-1.118029	0.01785	.	.	ENSG00000152784	ENST00000504452;ENST00000515013;ENST00000339711;ENST00000415738	T;T;T;T	0.65916	-0.18;0.37;-0.18;-0.18	4.42	3.56	0.40772	.	0.155132	0.30068	N	0.010485	T	0.42404	0.1201	L	0.27053	0.805	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.11842	-1.0571	10	0.13853	T	0.58	.	8.4056	0.32612	0.1115:0.0:0.8885:0.0	.	204	Q9NQV8	PRDM8_HUMAN	D	204	ENSP00000423985:G204D;ENSP00000425149:G204D;ENSP00000339764:G204D;ENSP00000406998:G204D	ENSP00000339764:G204D	G	+	2	0	PRDM8	81342251	1.000000	0.71417	0.935000	0.37517	0.257000	0.26127	0.029000	0.13666	2.307000	0.77673	0.313000	0.20887	GGC		0.652	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			25	53	0	0	0	0	25	53				
MTTP	4547	broad.mit.edu	37	4	100534196	100534196	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr4:100534196T>C	ENST00000265517.5	+	15	2319	c.2116T>C	c.(2116-2118)Ttt>Ctt	p.F706L	MTTP_ENST00000457717.1_Missense_Mutation_p.F706L|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Missense_Mutation_p.F733L			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	706					cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	ACCTGTCACCTTTTTCAACGG	0.478																																						uc003hvc.3		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(2116-2118)TTT>CTT		microsomal triglyceride transfer protein large	Hesperetin(DB01094)						190.0	170.0	177.0					4																	100534196		2203	4300	6503	SO:0001583	missense	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100534196T>C		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.2116T>C	4.37:g.100534196T>C	ENSP00000265517:p.Phe706Leu					MTTP_uc011cej.1_Missense_Mutation_p.F733L	p.F706L	NM_000253	NP_000244	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	16	2372	+			706					A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	ENST00000265517.5	37	c.2116T>C	CCDS3651.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.046688	0.75846	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517	T;T;T	0.68903	-0.36;-0.34;-0.34	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.67804	0.2932	L	0.57536	1.79	0.80722	D	1	P;P	0.49862	0.929;0.787	P;B	0.46172	0.506;0.218	T	0.67829	-0.5569	10	0.33940	T	0.23	-26.2677	15.5644	0.76277	0.0:0.0:0.0:1.0	.	733;706	E9PBP6;P55157	.;MTP_HUMAN	L	733;706;706	ENSP00000427679:F733L;ENSP00000400821:F706L;ENSP00000265517:F706L	ENSP00000265517:F706L	F	+	1	0	MTTP	100753219	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	7.596000	0.82721	2.085000	0.62840	0.477000	0.44152	TTT		0.478	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			3	120	0	0	0	0	3	120				
TBCK	93627	broad.mit.edu	37	4	107156504	107156504	+	Missense_Mutation	SNP	G	G	T	rs532862191		TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr4:107156504G>T	ENST00000273980.5	-	16	1818	c.1371C>A	c.(1369-1371)aaC>aaA	p.N457K	TBCK_ENST00000361687.4_Missense_Mutation_p.N394K|TBCK_ENST00000394706.3_Missense_Mutation_p.N418K|TBCK_ENST00000432496.2_Missense_Mutation_p.N457K|TBCK_ENST00000394708.2_Missense_Mutation_p.N457K					TBC1 domain containing kinase											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						TCCAGATTTGGTTTTTTTTAT	0.363													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14482	0.0		0.0	False		,,,				2504	0.0					uc010ilv.2		NA																	0		p.N457fs*15(1)		large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)	5						c.(1369-1371)AAC>AAA		TBC domain-containing protein kinase-like																																				SO:0001583	missense	93627					intracellular	Rab GTPase activator activity	g.chr4:107156504G>T		CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.1371C>A	4.37:g.107156504G>T	ENSP00000273980:p.Asn457Lys					TBCK_uc003hyb.2_Missense_Mutation_p.N200K|TBCK_uc003hye.2_Missense_Mutation_p.N418K|TBCK_uc003hyc.2_Missense_Mutation_p.N394K|TBCK_uc003hyd.2_Missense_Mutation_p.N285K|TBCK_uc003hyf.2_Missense_Mutation_p.N457K	p.N457K	NM_001163435	NP_001156907	Q8TEA7	TBCK_HUMAN			15	1736	-			457						Missense_Mutation	SNP	ENST00000273980.5	37	c.1371C>A	CCDS54788.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.104986	0.37145	.	.	ENSG00000145348	ENST00000273980;ENST00000432496;ENST00000361687;ENST00000394706;ENST00000394708	T;T;T;T;T	0.09817	2.94;2.94;2.94;2.94;2.94	5.9	0.724	0.18236	Rab-GAP/TBC domain (1);	0.000000	0.85682	D	0.000000	T	0.06645	0.0170	L	0.34521	1.04	0.48087	D	0.999586	B;P;B	0.43094	0.013;0.799;0.012	B;B;B	0.33620	0.003;0.167;0.022	T	0.39396	-0.9616	10	0.34782	T	0.22	.	10.6525	0.45657	0.6634:0.0:0.3366:0.0	.	457;418;394	Q8TEA7;Q8TEA7-2;Q8TEA7-3	TBCK_HUMAN;.;.	K	457;457;394;418;457	ENSP00000273980:N457K;ENSP00000405847:N457K;ENSP00000355338:N394K;ENSP00000378196:N418K;ENSP00000378198:N457K	ENSP00000273980:N457K	N	-	3	2	TBCK	107375953	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.665000	0.46791	0.157000	0.19338	-1.027000	0.02421	AAC		0.363	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253953.4	NM_033115		10	28	1	0	6.4e-05	6.9e-05	10	28				
ANK2	287	broad.mit.edu	37	4	114275313	114275313	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr4:114275313C>A	ENST00000357077.4	+	38	5592	c.5539C>A	c.(5539-5541)Cca>Aca	p.P1847T	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.P1814T|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1847	Repeat-rich region.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCCAGTATCACCATCAAGTAA	0.473																																						uc003ibe.3		NA																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(5539-5541)CCA>ACA		ankyrin 2 isoform 1							157.0	158.0	158.0					4																	114275313		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114275313C>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.5539C>A	4.37:g.114275313C>A	ENSP00000349588:p.Pro1847Thr					ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.P1862T	p.P1847T	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	5639	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1814			Repeat A.|Repeat-rich region.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.5539C>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.420392	0.42918	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.68479	-0.32;-0.33	5.96	4.19	0.49359	.	0.160058	0.30068	N	0.010496	T	0.63954	0.2555	L	0.59436	1.845	0.80722	D	1	D;P	0.55605	0.972;0.86	P;P	0.48304	0.573;0.536	T	0.64058	-0.6496	9	.	.	.	.	6.4535	0.21916	0.0:0.6901:0.1506:0.1592	.	1814;1847	Q01484;Q01484-4	ANK2_HUMAN;.	T	1847;1814	ENSP00000349588:P1847T;ENSP00000264366:P1814T	.	P	+	1	0	ANK2	114494762	0.548000	0.26473	0.806000	0.32338	0.902000	0.53008	0.550000	0.23345	1.537000	0.49254	0.655000	0.94253	CCA		0.473	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		56	179	1	0	2.54e-28	2.95e-28	56	179				
KIAA1109	84162	broad.mit.edu	37	4	123270379	123270379	+	Silent	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr4:123270379C>T	ENST00000264501.4	+	78	13720	c.13347C>T	c.(13345-13347)atC>atT	p.I4449I	KIAA1109_ENST00000388738.3_Silent_p.I4449I			Q2LD37	K1109_HUMAN	KIAA1109	4449					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ATCGAGAGATCAGCATGTCTG	0.403																																						uc003ieh.2		NA																	0				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(13345-13347)ATC>ATT		fragile site-associated protein							149.0	157.0	155.0					4																	123270379		1896	4106	6002	SO:0001819	synonymous_variant	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123270379C>T	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.13347C>T	4.37:g.123270379C>T						KIAA1109_uc003iem.2_Silent_p.I805I	p.I4449I	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			76	13392	+			4449					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	37	c.13347C>T	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	C	8.349	0.830558	0.16820	.	.	ENSG00000138688	ENST00000306802	.	.	.	5.75	-7.81	0.01210	.	.	.	.	.	T	0.58779	0.2146	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64170	-0.6470	4	.	.	.	.	13.0921	0.59171	0.1057:0.6138:0.0:0.2804	.	.	.	.	L	825	.	.	S	+	2	0	KIAA1109	123489829	0.953000	0.32496	0.893000	0.35052	0.983000	0.72400	0.131000	0.15870	-1.254000	0.02485	-0.238000	0.12139	TCA		0.403	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		12	37	0	0	0	0	12	37				
ZNF827	152485	broad.mit.edu	37	4	146823888	146823888	+	Missense_Mutation	SNP	C	C	T	rs200909694		TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr4:146823888C>T	ENST00000508784.1	-	2	750	c.523G>A	c.(523-525)Gag>Aag	p.E175K	ZNF827_ENST00000379448.4_Missense_Mutation_p.E175K|ZNF827_ENST00000513320.1_Intron			Q17R98	ZN827_HUMAN	zinc finger protein 827	175					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(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TCCTGCTTCTCGGCCAACTTC	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		20027	0.001		0.0	False		,,,				2504	0.0					uc003ikn.2		NA																	0					0						c.(523-525)GAG>AAG		zinc finger protein 827							86.0	78.0	81.0					4																	146823888		2203	4300	6503	SO:0001583	missense	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146823888C>T	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.523G>A	4.37:g.146823888C>T	ENSP00000421863:p.Glu175Lys					ZNF827_uc003ikm.2_Missense_Mutation_p.E175K|ZNF827_uc010iox.2_Intron	p.E175K	NM_178835	NP_849157	Q17R98	ZN827_HUMAN			2	571	-	all_hematologic(180;0.151)		175					B7ZL52|Q7Z4S7|Q8N279	Missense_Mutation	SNP	ENST00000508784.1	37	c.523G>A		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	23.5	4.418636	0.83559	.	.	ENSG00000151612	ENST00000508784;ENST00000379448;ENST00000281318	T;T	0.07444	3.19;3.23	5.84	5.84	0.93424	.	0.188836	0.56097	D	0.000026	T	0.11965	0.0291	N	0.19112	0.55	0.42444	D	0.992729	D;D	0.61080	0.981;0.989	B;P	0.49829	0.419;0.623	T	0.02150	-1.1205	10	0.62326	D	0.03	-24.2526	20.1278	0.97990	0.0:1.0:0.0:0.0	.	175;175	Q17R98;Q17R98-2	ZN827_HUMAN;.	K	175;175;174	ENSP00000421863:E175K;ENSP00000368761:E175K	ENSP00000281318:E174K	E	-	1	0	ZNF827	147043338	0.991000	0.36638	0.975000	0.42487	0.947000	0.59692	5.679000	0.68160	2.768000	0.95171	0.561000	0.74099	GAG		0.537	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		4	93	0	0	0	0	4	93				
FAT1	2195	broad.mit.edu	37	4	187535482	187535482	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr4:187535482G>A	ENST00000441802.2	-	12	9301	c.9092C>T	c.(9091-9093)aCt>aTt	p.T3031I		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3031	Cadherin 28. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTCAGGAATAGTGTCTGAATA	0.378										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(9091-9093)ACT>ATT		FAT tumor suppressor 1 precursor							88.0	84.0	85.0					4																	187535482		1877	4102	5979	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187535482G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.9092C>T	4.37:g.187535482G>A	ENSP00000406229:p.Thr3031Ile	HNSCC(5;0.00058)					p.T3031I	NM_005245	NP_005236	Q14517	FAT1_HUMAN			12	9280	-			3031			Extracellular (Potential).|Cadherin 28.			Missense_Mutation	SNP	ENST00000441802.2	37	c.9092C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	9.819	1.185165	0.21870	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.01767	4.65	4.73	3.89	0.44902	Cadherin (3);Cadherin-like (1);	0.205916	0.48767	D	0.000166	T	0.02455	0.0075	L	0.49350	1.555	0.45076	D	0.998097	B	0.06786	0.001	B	0.14023	0.01	T	0.50406	-0.8832	10	0.21540	T	0.41	.	12.8506	0.57855	0.0791:0.0:0.9209:0.0	.	3031	Q14517	FAT1_HUMAN	I	3031;3033	ENSP00000406229:T3031I	ENSP00000260147:T3033I	T	-	2	0	FAT1	187772476	0.936000	0.31750	0.993000	0.49108	0.606000	0.37113	2.558000	0.45879	1.215000	0.43411	0.455000	0.32223	ACT		0.378	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		19	56	0	0	0	0	19	56				
TERT	7015	broad.mit.edu	37	5	1253933	1253933	+	Silent	SNP	C	C	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr5:1253933C>A	ENST00000310581.5	-	16	3366	c.3309G>T	c.(3307-3309)ctG>ctT	p.L1103L	TERT_ENST00000334602.6_Silent_p.L1040L|TERT_ENST00000296820.5_3'UTR	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	1103	CTE.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	GCTTCCGACTCAGCTGCGTCT	0.662									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																													uc003jcb.1		NA																	0				lung(7)|ovary(2)|central_nervous_system(2)|skin(1)	12						c.(3307-3309)CTG>CTT		telomerase reverse transcriptase isoform 1							21.0	29.0	27.0					5																	1253933		2170	4258	6428	SO:0001819	synonymous_variant	7015	TERT_Mutation-Associated_Haematological_Disorders|Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	g.chr5:1253933C>A	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.3309G>T	5.37:g.1253933C>A						TERT_uc003jbz.1_Silent_p.L299L|TERT_uc003jca.1_Silent_p.L1091L|TERT_uc003jcc.1_Silent_p.L1040L|TERT_uc003jcd.1_RNA|TERT_uc003jce.1_RNA	p.L1103L	NM_198253	NP_937983	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		16	3367	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		1103			CTE.		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Silent	SNP	ENST00000310581.5	37	c.3309G>T	CCDS3861.2																																																																																				0.662	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			13	133	1	0	1.36e-06	1.49e-06	13	133				
NPR3	4883	broad.mit.edu	37	5	32789781	32789781	+	3'UTR	SNP	C	C	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr5:32789781C>A	ENST00000265074.8	+	0	5299				AC026703.1_ENST00000326958.1_Missense_Mutation_p.P92T	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	CCTTCTTTGCCCCAAATGCAT	0.403																																						uc003jhw.1		NA																	0					0						c.(274-276)CCC>ACC		hypothetical protein LOC79614							153.0	125.0	134.0					5																	32789781		2203	4300	6503	SO:0001624	3_prime_UTR_variant	79614							g.chr5:32789781C>A		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.*3330C>A	5.37:g.32789781C>A							p.P92T	NM_024563	NP_078839					1	837	+								A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	ENST00000265074.8	37	c.274C>A	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.431671	0.62844	.	.	ENSG00000181495	ENST00000326958	.	.	.	4.72	4.72	0.59763	.	.	.	.	.	T	0.73194	0.3556	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	T	0.76310	-0.3006	5	0.87932	D	0	.	13.3625	0.60665	0.0:1.0:0.0:0.0	.	.	.	.	T	92	.	ENSP00000318340:P92T	P	+	1	0	AC026703.1	32825538	0.041000	0.20044	0.018000	0.16275	0.762000	0.43233	1.822000	0.39052	2.610000	0.88304	0.591000	0.81541	CCC		0.403	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		18	41	1	0	1.68e-08	1.85e-08	18	41				
REEP5	7905	broad.mit.edu	37	5	112238181	112238181	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr5:112238181C>T	ENST00000379638.4	-	3	595	c.247G>A	c.(247-249)Gat>Aat	p.D83N	REEP5_ENST00000545426.1_Missense_Mutation_p.D83N|REEP5_ENST00000474542.2_5'UTR|REEP5_ENST00000513339.1_Missense_Mutation_p.D83N|REEP5_ENST00000504247.1_Intron	NM_005669.4	NP_005660.4	Q00765	REEP5_HUMAN	receptor accessory protein 5	83						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013)		CACTGGGTATCATCTTCTTTG	0.383																																						uc003kqe.1		NA																	0					0						c.(247-249)GAT>AAT		receptor accessory protein 5							145.0	142.0	143.0					5																	112238181		2202	4300	6502	SO:0001583	missense	7905					integral to membrane	protein binding	g.chr5:112238181C>T	BC000232	CCDS4109.2	5q22-q23	2008-02-05	2006-02-07	2006-02-07	ENSG00000129625	ENSG00000129625		"""Receptor accessory proteins"""	30077	protein-coding gene	gene with protein product	"""deleted in polyposis 1"", ""polyposis locus protein 1"", ""polyposis coli region hypothetical protein DP1"""	125265	"""chromosome 5 open reading frame 18"""	C5orf18		16271481, 15550249	Standard	NM_005669		Approved	DP1, TB2, D5S346	uc003kqe.1	Q00765	OTTHUMG00000128807	ENST00000379638.4:c.247G>A	5.37:g.112238181C>T	ENSP00000368959:p.Asp83Asn					REEP5_uc011cvw.1_Missense_Mutation_p.D56N|REEP5_uc011cvx.1_RNA|REEP5_uc011cvy.1_Missense_Mutation_p.D83N|REEP5_uc011cvz.1_Intron	p.D83N	NM_005669	NP_005660	Q00765	REEP5_HUMAN		Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013)	3	391	-		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)	83					B7Z681|D3DT04|Q04198|Q5QGT0|Q9BWH9	Missense_Mutation	SNP	ENST00000379638.4	37	c.247G>A	CCDS4109.2	.	.	.	.	.	.	.	.	.	.	C	36	5.609632	0.96637	.	.	ENSG00000129625	ENST00000379638;ENST00000513339;ENST00000545426;ENST00000261482	D;D;D;D	0.93133	-3.17;-3.17;-3.17;-3.17	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.97682	0.9240	M	0.92317	3.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.989	D;D;D	0.97110	0.999;1.0;0.968	D	0.98059	1.0392	10	0.72032	D	0.01	-19.7311	19.9036	0.96999	0.0:1.0:0.0:0.0	.	83;56;83	B7Z510;B7Z2A3;Q00765	.;.;REEP5_HUMAN	N	83;83;83;74	ENSP00000368959:D83N;ENSP00000425901:D83N;ENSP00000442940:D83N;ENSP00000261482:D74N	ENSP00000261482:D74N	D	-	1	0	REEP5	112266080	1.000000	0.71417	0.977000	0.42913	0.998000	0.95712	7.794000	0.85869	2.706000	0.92434	0.655000	0.94253	GAT		0.383	REEP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250739.2	NM_005669		16	48	0	0	0	0	16	48				
FBN2	2201	broad.mit.edu	37	5	127595471	127595471	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr5:127595471C>T	ENST00000508053.1	-	71	9389	c.8415G>A	c.(8413-8415)atG>atA	p.M2805I	FBN2_ENST00000262464.4_Missense_Mutation_p.M2805I			P35556	FBN2_HUMAN	fibrillin 2	2805					anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGTTGAACTTCATGTTGACGG	0.517																																						uc003kuu.2		NA																	0				ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(8413-8415)ATG>ATA		fibrillin 2 precursor							129.0	122.0	124.0					5																	127595471		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127595471C>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.8415G>A	5.37:g.127595471C>T	ENSP00000424571:p.Met2805Ile						p.M2805I	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	65	8854	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2805					B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.8415G>A	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269492	0.40095	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.83506	-1.73;-1.73	5.44	5.44	0.79542	.	0.064498	0.64402	D	0.000004	T	0.81235	0.4780	L	0.55743	1.74	0.50467	D	0.999876	B	0.10296	0.003	B	0.12156	0.007	T	0.74624	-0.3603	10	0.31617	T	0.26	.	19.4492	0.94860	0.0:1.0:0.0:0.0	.	2805	P35556	FBN2_HUMAN	I	2805	ENSP00000262464:M2805I;ENSP00000424571:M2805I	ENSP00000262464:M2805I	M	-	3	0	FBN2	127623370	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	2.523000	0.45580	2.833000	0.97629	0.555000	0.69702	ATG		0.517	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		47	44	0	0	0	0	47	44				
KCTD16	57528	broad.mit.edu	37	5	143586683	143586683	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr5:143586683C>G	ENST00000507359.3	+	2	1497	c.406C>G	c.(406-408)Cac>Gac	p.H136D	KCTD16_ENST00000512467.1_Missense_Mutation_p.H136D	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	136					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)				large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			TGAATTCTGCCACAGTGACTT	0.522																																						uc003lnm.1		NA																	0				large_intestine(2)|ovary(1)|skin(1)	4						c.(406-408)CAC>GAC		potassium channel tetramerisation domain							81.0	86.0	84.0					5																	143586683		2203	4300	6503	SO:0001583	missense	57528					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr5:143586683C>G	AB037738	CCDS34260.1	5q32	2013-06-20	2013-06-20		ENSG00000183775	ENSG00000183775			29244	protein-coding gene	gene with protein product		613423	"""potassium channel tetramerisation domain containing 16"""			10718198	Standard	NM_020768		Approved	KIAA1317	uc003lnm.1	Q68DU8	OTTHUMG00000163172	ENST00000507359.3:c.406C>G	5.37:g.143586683C>G	ENSP00000426548:p.His136Asp					KCTD16_uc003lnn.1_Missense_Mutation_p.H136D	p.H136D	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		3	1035	+		all_hematologic(541;0.118)	136					Q9P2M9	Missense_Mutation	SNP	ENST00000507359.3	37	c.406C>G	CCDS34260.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.934998	0.52866	.	.	ENSG00000183775	ENST00000512467;ENST00000507359	T;T	0.42131	0.98;0.98	5.75	5.75	0.90469	BTB/POZ fold (1);	0.045370	0.85682	D	0.000000	T	0.40067	0.1102	L	0.48362	1.52	0.80722	D	1	B	0.30763	0.294	B	0.24974	0.057	T	0.14117	-1.0484	10	0.37606	T	0.19	.	19.9421	0.97168	0.0:1.0:0.0:0.0	.	136	Q68DU8	KCD16_HUMAN	D	136	ENSP00000424151:H136D;ENSP00000426548:H136D	ENSP00000426548:H136D	H	+	1	0	KCTD16	143566876	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.954000	0.70298	2.714000	0.92807	0.561000	0.74099	CAC		0.522	KCTD16-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371898.3	XM_098368		28	43	0	0	0	0	28	43				
THG1L	54974	broad.mit.edu	37	5	157166327	157166327	+	Splice_Site	SNP	A	A	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr5:157166327A>T	ENST00000231198.7	+	6	979		c.e6-1			NM_017872.3	NP_060342.2	Q9NWX6	THG1_HUMAN	tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)						protein homotetramerization (GO:0051289)|tRNA modification (GO:0006400)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|tRNA binding (GO:0000049)|tRNA guanylyltransferase activity (GO:0008193)			NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTTTACCTGTAGGTGGATGAA	0.428																																						uc003lxd.2		NA																	0					0						c.e6-2		interphase cytoplasmic foci protein 45							48.0	48.0	48.0					5																	157166327		2203	4300	6503	SO:0001630	splice_region_variant	54974				protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity	g.chr5:157166327A>T	AK223119	CCDS4341.1	5q33.3	2008-02-05			ENSG00000113272	ENSG00000113272			26053	protein-coding gene	gene with protein product	"""interphase cytoplasmic foci protein 45"""					11230166	Standard	XM_005265939		Approved	ICF45, FLJ11601, FLJ20546	uc003lxd.3	Q9NWX6	OTTHUMG00000130254	ENST00000231198.7:c.736-1A>T	5.37:g.157166327A>T						THG1L_uc011ddu.1_Splice_Site_p.V114_splice	p.V246_splice	NM_017872	NP_060342	Q9NWX6	THG1_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		6	862	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)						D3DQJ5|Q53G12|Q7L5R3|Q9H0S2	Splice_Site	SNP	ENST00000231198.7	37	c.736_splice	CCDS4341.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.007374	0.75046	.	.	ENSG00000113272	ENST00000231198;ENST00000448153	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9539	0.79865	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	THG1L	157098905	1.000000	0.71417	0.985000	0.45067	0.848000	0.48234	8.304000	0.89958	2.240000	0.73641	0.528000	0.53228	.		0.428	THG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252579.2	NM_017872	Intron	17	26	0	0	0	0	17	26				
TRIM26	7726	broad.mit.edu	37	6	30166498	30166498	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr6:30166498C>G	ENST00000454678.2	-	4	819	c.383G>C	c.(382-384)cGg>cCg	p.R128P	TRIM26_ENST00000453195.1_Missense_Mutation_p.R128P|TRIM26_ENST00000437089.1_Missense_Mutation_p.R128P|TRIM26_ENST00000487829.1_5'Flank	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	128					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			lung(1)|ovary(2)	3						CCTGTGCTCCCGGGACTCCCG	0.642																																						uc003npr.2		NA																	0				ovary(2)|lung(1)	3						c.(382-384)CGG>CCG		tripartite motif-containing 26							44.0	37.0	40.0					6																	30166498		1509	2707	4216	SO:0001583	missense	7726						DNA binding|zinc ion binding	g.chr6:30166498C>G	AB088090	CCDS4678.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000234127	ENSG00000234127		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	12962	protein-coding gene	gene with protein product		600830	"""tripartite motif-containing 26"""	ZNF173		8530076	Standard	NM_003449		Approved	RNF95	uc003npt.3	Q12899	OTTHUMG00000031041	ENST00000454678.2:c.383G>C	6.37:g.30166498C>G	ENSP00000410446:p.Arg128Pro					TRIM26_uc003nps.2_Missense_Mutation_p.R128P|TRIM26_uc010jry.2_5'UTR|TRIM26_uc003npt.2_Missense_Mutation_p.R128P|TRIM26_uc003npu.1_Missense_Mutation_p.R128P	p.R128P	NM_003449	NP_003440	Q12899	TRI26_HUMAN			3	592	-			128			B box-type.		A6NG96|Q5SRL2	Missense_Mutation	SNP	ENST00000454678.2	37	c.383G>C	CCDS4678.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940262	0.73557	.	.	ENSG00000234127	ENST00000453195;ENST00000454678;ENST00000437089;ENST00000416596;ENST00000418026	T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47	5.59	5.59	0.84812	Zinc finger, B-box (3);	0.317272	0.22375	N	0.060898	T	0.48333	0.1494	L	0.28556	0.865	0.33390	D	0.576041	D	0.89917	1.0	D	0.87578	0.998	T	0.49103	-0.8974	10	0.32370	T	0.25	.	12.0765	0.53647	0.1719:0.8281:0.0:0.0	.	128	Q12899	TRI26_HUMAN	P	128	ENSP00000391879:R128P;ENSP00000410446:R128P;ENSP00000395491:R128P;ENSP00000413673:R128P;ENSP00000387530:R128P	ENSP00000413673:R128P	R	-	2	0	TRIM26	30274477	0.005000	0.15991	1.000000	0.80357	0.995000	0.86356	0.088000	0.14979	2.631000	0.89168	0.643000	0.83706	CGG		0.642	TRIM26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253442.1	NM_003449		11	14	0	0	0	0	11	14				
ANKS1A	23294	broad.mit.edu	37	6	34949518	34949518	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr6:34949518G>C	ENST00000360359.3	+	4	625	c.487G>C	c.(487-489)Gag>Cag	p.E163Q	ANKS1A_ENST00000535627.1_Missense_Mutation_p.E163Q	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	163					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TGGCCACACAGAGGTGGTGAA	0.542																																						uc003ojx.3		NA																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(487-489)GAG>CAG		ankyrin repeat and sterile alpha motif domain							108.0	93.0	98.0					6																	34949518		2203	4300	6503	SO:0001583	missense	23294					cytoplasm	protein binding	g.chr6:34949518G>C	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20961	protein-coding gene	gene with protein product		608994	"""ankyrin repeat and SAM domain containing 1"", ""ankyrin repeat and sterile alpha motif domain containing 1"""	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.487G>C	6.37:g.34949518G>C	ENSP00000353518:p.Glu163Gln					ANKS1A_uc011dss.1_Missense_Mutation_p.E163Q|ANKS1A_uc011dst.1_5'UTR|ANKS1A_uc010jvp.1_5'UTR|ANKS1A_uc010jvr.1_RNA	p.E163Q	NM_015245	NP_056060	Q92625	ANS1A_HUMAN			4	629	+			163			ANK 3.		A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Missense_Mutation	SNP	ENST00000360359.3	37	c.487G>C	CCDS4798.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845599	0.51164	.	.	ENSG00000064999	ENST00000544150;ENST00000360359;ENST00000535627	T;T	0.57907	0.37;0.37	5.95	5.95	0.96441	Ankyrin repeat-containing domain (3);	0.000000	0.49916	D	0.000134	T	0.41396	0.1157	L	0.54863	1.705	0.37807	D	0.927915	B;B	0.31153	0.017;0.31	B;B	0.28553	0.017;0.091	T	0.43065	-0.9414	10	0.56958	D	0.05	-26.3116	20.4024	0.99000	0.0:0.0:1.0:0.0	.	163;163	B4DQW8;Q92625	.;ANS1A_HUMAN	Q	163	ENSP00000353518:E163Q;ENSP00000438752:E163Q	ENSP00000353518:E163Q	E	+	1	0	ANKS1A	35057496	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.269000	0.72558	2.827000	0.97445	0.650000	0.86243	GAG		0.542	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		21	41	0	0	0	0	21	41				
ZFAND3	60685	broad.mit.edu	37	6	38120124	38120124	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr6:38120124G>C	ENST00000287218.4	+	6	1090	c.643G>C	c.(643-645)Gtg>Ctg	p.V215L	ZFAND3_ENST00000373391.2_Missense_Mutation_p.V193L|ZFAND3_ENST00000463847.1_3'UTR	NM_021943.2	NP_068762.1	Q9H8U3	ZFAN3_HUMAN	zinc finger, AN1-type domain 3	215							DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)	9						GGACCGGAAAGTGGGGCGCTC	0.577																																						uc003onx.2		NA																	0				ovary(1)	1						c.(643-645)GTG>CTG		zinc finger, AN1-type domain 3							99.0	93.0	95.0					6																	38120124		2203	4300	6503	SO:0001583	missense	60685						DNA binding|zinc ion binding	g.chr6:38120124G>C	AK023284	CCDS4836.1	6p21.2	2013-09-19	2005-12-15	2005-12-15	ENSG00000156639	ENSG00000156639		"""Zinc fingers, AN1-type domain containing"""	18019	protein-coding gene	gene with protein product		607455	"""testis expressed sequence 27"""	TEX27			Standard	NM_021943		Approved	FLJ13222	uc003onx.3	Q9H8U3	OTTHUMG00000014629	ENST00000287218.4:c.643G>C	6.37:g.38120124G>C	ENSP00000287218:p.Val215Leu						p.V215L	NM_021943	NP_068762	Q9H8U3	ZFAN3_HUMAN			6	1058	+			215					Q5SZZ0|Q5SZZ1	Missense_Mutation	SNP	ENST00000287218.4	37	c.643G>C	CCDS4836.1	.	.	.	.	.	.	.	.	.	.	G	34	5.319648	0.95682	.	.	ENSG00000156639	ENST00000287218;ENST00000373391	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.75004	0.3791	M	0.64080	1.96	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.75079	-0.3444	9	0.66056	D	0.02	-8.4614	20.282	0.98514	0.0:0.0:1.0:0.0	.	215	Q9H8U3	ZFAN3_HUMAN	L	215;193	.	ENSP00000287218:V215L	V	+	1	0	ZFAND3	38228102	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.860000	0.99555	2.786000	0.95864	0.563000	0.77884	GTG		0.577	ZFAND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040424.3	NM_021943		69	67	0	0	0	0	69	67				
KLHDC3	116138	broad.mit.edu	37	6	42985674	42985674	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr6:42985674A>C	ENST00000326974.4	+	4	610	c.415A>C	c.(415-417)Atc>Ctc	p.I139L	KLHDC3_ENST00000244670.8_Intron|KLHDC3_ENST00000332245.8_Missense_Mutation_p.I80L	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	139					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|reciprocal meiotic recombination (GO:0007131)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)	chromatin binding (GO:0003682)			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCTAGGCAAGATCATGTACAT	0.512																																						uc003otl.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(415-417)ATC>CTC		kelch domain containing 3							126.0	122.0	124.0					6																	42985674		2203	4300	6503	SO:0001583	missense	116138				reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding	g.chr6:42985674A>C	AB055925	CCDS4880.1	6p21.1	2003-06-12			ENSG00000124702	ENSG00000124702			20704	protein-coding gene	gene with protein product		611248				12444059, 12606021	Standard	NM_057161		Approved	PEAS, hPeas, dJ20C7.3	uc003otl.3	Q9BQ90	OTTHUMG00000014714	ENST00000326974.4:c.415A>C	6.37:g.42985674A>C	ENSP00000313995:p.Ile139Leu					KLHDC3_uc003otm.2_RNA|KLHDC3_uc010jyf.2_Missense_Mutation_p.I139L|KLHDC3_uc003otn.2_Intron|KLHDC3_uc003oto.2_Missense_Mutation_p.I80L	p.I139L	NM_057161	NP_476502	Q9BQ90	KLDC3_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		4	584	+			139			Kelch 3.		A8K2W9	Missense_Mutation	SNP	ENST00000326974.4	37	c.415A>C	CCDS4880.1	.	.	.	.	.	.	.	.	.	.	A	5.984	0.365489	0.11352	.	.	ENSG00000124702	ENST00000326974;ENST00000432243;ENST00000394096;ENST00000426116;ENST00000332245	T;T	0.17054	2.3;2.3	5.15	5.15	0.70609	Kelch-type beta propeller (1);	0.510351	0.21091	N	0.080316	T	0.02807	0.0084	N	0.03917	-0.325	0.80722	D	1	B;B;B	0.11235	0.0;0.004;0.004	B;B;B	0.15052	0.001;0.012;0.012	T	0.35525	-0.9785	10	0.10636	T	0.68	.	14.9695	0.71223	1.0:0.0:0.0:0.0	.	139;80;139	E7ENU0;E7ERR0;Q9BQ90	.;.;KLDC3_HUMAN	L	139;139;139;112;80	ENSP00000313995:I139L;ENSP00000331562:I80L	ENSP00000313995:I139L	I	+	1	0	KLHDC3	43093652	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.850000	0.39328	1.950000	0.56595	0.459000	0.35465	ATC		0.512	KLHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040570.1	NM_057161		27	77	0	0	0	0	27	77				
GSTA4	2941	broad.mit.edu	37	6	52847396	52847396	+	Silent	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr6:52847396G>A	ENST00000370959.1	-	6	639	c.522C>T	c.(520-522)atC>atT	p.I174I	GSTA4_ENST00000541324.1_Silent_p.I81I|GSTA4_ENST00000486559.1_5'UTR|GSTA4_ENST00000370960.1_Silent_p.I81I			O15217	GSTA4_HUMAN	glutathione S-transferase alpha 4	174	GST C-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)			endometrium(1)|lung(3)|skin(2)|urinary_tract(1)	7	Lung NSC(77;0.103)				Glutathione(DB00143)	ATGCAGACAGGATATTAGGAA	0.408																																						uc003pbc.2		NA																	0					0						c.(520-522)ATC>ATT		glutathione S-transferase alpha 4	Glutathione(DB00143)						92.0	92.0	92.0					6																	52847396		2203	4300	6503	SO:0001819	synonymous_variant	2941				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity|protein homodimerization activity	g.chr6:52847396G>A	AF020918	CCDS4948.1	6p12.2	2012-06-21	2008-11-26		ENSG00000170899	ENSG00000170899	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4629	protein-coding gene	gene with protein product		605450	"""glutathione S-transferase A4"""			9480897	Standard	NM_001512		Approved		uc003pbf.3	O15217	OTTHUMG00000014868	ENST00000370959.1:c.522C>T	6.37:g.52847396G>A						GSTA4_uc003pbd.2_Silent_p.I81I|GSTA4_uc003pbe.2_Silent_p.I81I|GSTA4_uc003pbf.2_Silent_p.I174I	p.I174I	NM_001512	NP_001503	O15217	GSTA4_HUMAN			5	586	-	Lung NSC(77;0.103)		174			GST C-terminal.		B2RD15|Q5T7Q8|Q6P4G1|Q9BX18|Q9H414	Silent	SNP	ENST00000370959.1	37	c.522C>T	CCDS4948.1																																																																																				0.408	GSTA4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040946.1	NM_001512		19	39	0	0	0	0	19	39				
FHL5	9457	broad.mit.edu	37	6	97063544	97063544	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr6:97063544A>G	ENST00000326771.2	+	7	1131	c.751A>G	c.(751-753)Aac>Gac	p.N251D	FHL5_ENST00000541107.1_Missense_Mutation_p.N251D	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	251	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		CGAATGCTTTAACTGCGGGAA	0.448																																						uc003pos.1		NA																	0				ovary(2)	2						c.(751-753)AAC>GAC		activator of cAMP-responsive element modulator							114.0	112.0	112.0					6																	97063544		2203	4300	6503	SO:0001583	missense	9457					nucleus	zinc ion binding	g.chr6:97063544A>G	AF278541	CCDS5035.1	6q16.1-q16.3	2008-02-05			ENSG00000112214	ENSG00000112214			17371	protein-coding gene	gene with protein product		605126					Standard	NM_020482		Approved	FLJ33049, ACT, dJ393D12.2	uc003pot.2	Q5TD97	OTTHUMG00000015239	ENST00000326771.2:c.751A>G	6.37:g.97063544A>G	ENSP00000326022:p.Asn251Asp					FHL5_uc003pot.1_Missense_Mutation_p.N251D	p.N251D	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0948)	7	1156	+		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)	251			LIM zinc-binding 4.		B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Missense_Mutation	SNP	ENST00000326771.2	37	c.751A>G	CCDS5035.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.362935	0.82353	.	.	ENSG00000112214	ENST00000541107;ENST00000326771	D;D	0.87334	-2.24;-2.24	5.66	5.66	0.87406	Zinc finger, LIM-type (5);	0.000000	0.43919	D	0.000501	D	0.90051	0.6893	M	0.79123	2.44	0.42855	D	0.994091	P	0.41102	0.738	P	0.53809	0.735	D	0.90255	0.4296	10	0.46703	T	0.11	.	15.9027	0.79392	1.0:0.0:0.0:0.0	.	251	Q5TD97	FHL5_HUMAN	D	251	ENSP00000442357:N251D;ENSP00000326022:N251D	ENSP00000326022:N251D	N	+	1	0	FHL5	97170265	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.962000	0.93254	2.146000	0.66826	0.533000	0.62120	AAC		0.448	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041559.1	NM_020482		8	53	0	0	0	0	8	53				
GRIK2	2898	broad.mit.edu	37	6	102503442	102503442	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr6:102503442C>A	ENST00000421544.1	+	15	3039	c.2549C>A	c.(2548-2550)gCt>gAt	p.A850D	GRIK2_ENST00000413795.1_Missense_Mutation_p.A850D|GRIK2_ENST00000369137.3_Missense_Mutation_p.A774D|GRIK2_ENST00000369138.1_Missense_Mutation_p.A850D|GRIK2_ENST00000318991.6_Missense_Mutation_p.A850D|GRIK2_ENST00000369134.4_Missense_Mutation_p.A801D	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	850					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	AAAAAAAACGCTCAATTGGAA	0.328																																						uc003pqp.3		NA																	0				ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(2548-2550)GCT>GAT		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						72.0	83.0	79.0					6																	102503442		2203	4300	6503	SO:0001583	missense	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102503442C>A		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.2549C>A	6.37:g.102503442C>A	ENSP00000397026:p.Ala850Asp					GRIK2_uc003pqo.3_Missense_Mutation_p.A850D|GRIK2_uc010kcw.2_Missense_Mutation_p.A850D	p.A850D	NM_021956	NP_068775	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	15	2798	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	850			Cytoplasmic (Potential).		A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.2549C>A	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114698	0.77210	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000369134;ENST00000540076	T;T;T;T;T;T	0.14266	2.59;2.56;2.52;2.86;2.56;2.6	5.51	4.64	0.57946	.	0.050677	0.85682	D	0.000000	T	0.19927	0.0479	M	0.76727	2.345	0.53005	D	0.999961	P;P;P	0.44776	0.812;0.843;0.812	P;P;P	0.51657	0.676;0.461;0.586	T	0.01198	-1.1421	10	0.52906	T	0.07	.	16.3709	0.83357	0.0:0.8679:0.1321:0.0	.	850;850;850	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	D	850;850;850;774;850;801;625	ENSP00000397026:A850D;ENSP00000405596:A850D;ENSP00000358134:A850D;ENSP00000358133:A774D;ENSP00000313276:A850D;ENSP00000358130:A801D	ENSP00000313276:A850D	A	+	2	0	GRIK2	102610135	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.487000	0.81328	1.328000	0.45358	-0.282000	0.10007	GCT		0.328	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			20	100	1	0	9.96e-16	1.14e-15	20	100				
HECA	51696	broad.mit.edu	37	6	139495643	139495643	+	Silent	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr6:139495643C>T	ENST00000367658.2	+	3	1719	c.1434C>T	c.(1432-1434)acC>acT	p.T478T	RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.2_ENST00000585447.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000590219.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	478					respiratory tube development (GO:0030323)	membrane (GO:0016020)				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		CTATGTACACCTACGACATCC	0.547																																						uc003qin.2		NA																	0					0						c.(1432-1434)ACC>ACT		headcase							214.0	173.0	187.0					6																	139495643		2203	4300	6503	SO:0001819	synonymous_variant	51696				respiratory tube development			g.chr6:139495643C>T	AB033492	CCDS5194.1	6q23-q24	2010-11-25			ENSG00000112406	ENSG00000112406			21041	protein-coding gene	gene with protein product		607977				11696983, 19643820	Standard	NM_016217		Approved	HDCL, hHDC, HDC, dJ225E12.1	uc003qin.3	Q9UBI9	OTTHUMG00000015686	ENST00000367658.2:c.1434C>T	6.37:g.139495643C>T							p.T478T	NM_016217	NP_057301	Q9UBI9	HDC_HUMAN		GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)	3	1719	+			478						Silent	SNP	ENST00000367658.2	37	c.1434C>T	CCDS5194.1																																																																																				0.547	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042456.1	NM_016217		12	131	0	0	0	0	12	131				
SUN1	23353	broad.mit.edu	37	7	912967	912967	+	Silent	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:912967G>A	ENST00000405266.1	+	20	2492	c.2468G>A	c.(2467-2469)tGa>tAa	p.*823*	SUN1_ENST00000456758.2_Silent_p.*975*|SUN1_ENST00000452783.2_Silent_p.*683*|SUN1_ENST00000425407.2_Silent_p.*703*|SUN1_ENST00000401592.1_Silent_p.*786*|SUN1_ENST00000413514.2_Silent_p.*584*|SUN1_ENST00000389574.3_Silent_p.*703*			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	0					cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCTGTCAAGTGAAGACACTAC	0.423											OREG0017816	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc011jvp.1		NA																	0					0						c.(2356-2358)TGA>TAA		unc-84 homolog A isoform a							144.0	137.0	139.0					7																	912967		1932	4135	6067	SO:0001819	synonymous_variant	23353				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding	g.chr7:912967G>A	AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"""Sad1 unc-84 domain protein 1"""	607723	"""unc-84 homolog A (C. elegans)"""	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.2468G>A	7.37:g.912967G>A			OREG0017816	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	591	GET4_uc003sjj.1_Intron|SUN1_uc003sjf.2_Silent_p.*703*|SUN1_uc011jvq.1_Silent_p.*683*|SUN1_uc003sjg.2_Silent_p.*691*|SUN1_uc011jvr.1_Silent_p.*584*|SUN1_uc003sji.2_Silent_p.*624*|SUN1_uc003sjk.2_Silent_p.*425*	p.*786*	NM_001130965	NP_001124437	O94901	SUN1_HUMAN			20	2436	+			786			Perinuclear space.|SUN.		A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Silent	SNP	ENST00000405266.1	37	c.2357G>A																																																																																					0.423	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1	NM_025154		15	67	0	0	0	0	15	67				
CARD11	84433	broad.mit.edu	37	7	2987368	2987368	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:2987368C>T	ENST00000396946.4	-	3	464	c.61G>A	c.(61-63)Gcc>Acc	p.A21T	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	21	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCCCACAAGGCGTCCTCTTCA	0.507			Mis		DLBCL																																	uc003smv.2		NA		Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50						c.(61-63)GCC>ACC		caspase recruitment domain family, member 11							278.0	233.0	248.0					7																	2987368		2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2987368C>T	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.61G>A	7.37:g.2987368C>T	ENSP00000380150:p.Ala21Thr						p.A21T	NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	3	465	-		Ovarian(82;0.0115)	21			CARD.		A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.61G>A	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	C	20.9	4.059837	0.76074	.	.	ENSG00000198286	ENST00000396946;ENST00000356408	T;T	0.25912	1.77;1.77	5.21	5.21	0.72293	DEATH-like (2);Caspase Recruitment (1);	0.053884	0.64402	D	0.000001	T	0.15089	0.0364	N	0.14661	0.345	0.51482	D	0.999928	B	0.32968	0.392	B	0.19148	0.024	T	0.08207	-1.0733	10	0.21014	T	0.42	-42.4143	18.7467	0.91795	0.0:1.0:0.0:0.0	.	21	Q9BXL7	CAR11_HUMAN	T	21	ENSP00000380150:A21T;ENSP00000348779:A21T	ENSP00000348779:A21T	A	-	1	0	CARD11	2953894	1.000000	0.71417	0.958000	0.39756	0.994000	0.84299	5.606000	0.67641	2.440000	0.82611	0.561000	0.74099	GCC		0.507	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		27	99	0	0	0	0	27	99				
PMS2	5395	broad.mit.edu	37	7	6043690	6043690	+	Splice_Site	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:6043690C>G	ENST00000265849.7	-	3	269		c.e3-1		Y_RNA_ENST00000365120.1_RNA|PMS2_ENST00000441476.2_5'Flank|PMS2_ENST00000382321.4_Splice_Site|PMS2_ENST00000406569.3_Splice_Site|PMS2_ENST00000469652.1_Intron	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)						ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		AGCTTTAGATCTAGAAAGttt	0.294			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													uc003spl.2		NA	yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	Mis|N|F	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			E		colorectal|endometrial|ovarian|medulloblastoma|glioma			0				lung(1)|central_nervous_system(1)	2						c.e3-1	Direct_reversal_of_damage|MMR	PMS2 postmeiotic segregation increased 2 isoform							61.0	65.0	64.0					7																	6043690		2195	4294	6489	SO:0001630	splice_region_variant	5395	Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	g.chr7:6043690C>G		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.164-1G>C	7.37:g.6043690C>G						PMS2_uc003spj.2_Splice_Site|PMS2_uc003spk.2_Splice_Site|PMS2_uc011jwl.1_Splice_Site|PMS2_uc010ktg.2_Splice_Site|PMS2_uc010kte.2_Splice_Site_p.D55_splice|PMS2_uc010ktf.1_Splice_Site_p.D55_splice	p.D55_splice	NM_000535	NP_000526	P54278	PMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)	3	251	-		Ovarian(82;0.0694)						B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Splice_Site	SNP	ENST00000265849.7	37	c.164_splice	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	c	15.17	2.753068	0.49362	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000382321;ENST00000406569	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4423	0.94825	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PMS2	6010216	1.000000	0.71417	0.997000	0.53966	0.555000	0.35460	7.199000	0.77831	2.598000	0.87819	0.484000	0.47621	.		0.294	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535	Intron	33	78	0	0	0	0	33	78				
ZNF12	7559	broad.mit.edu	37	7	6731676	6731676	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:6731676A>T	ENST00000405858.1	-	5	1438	c.897T>A	c.(895-897)tgT>tgA	p.C299*	ZNF12_ENST00000404360.1_Nonsense_Mutation_p.C225*|ZNF12_ENST00000342651.5_Nonsense_Mutation_p.C261*|AC073343.2_ENST00000577401.1_RNA|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	299					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		CACACTGATTACATTCGTAAG	0.423																																						uc003sqt.1		NA																	0					0						c.(895-897)TGT>TGA		zinc finger protein 12 isoform a							77.0	84.0	82.0					7																	6731676		2198	4298	6496	SO:0001587	stop_gained	7559				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:6731676A>T	X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"""Zinc fingers, C2H2-type"", ""-"""	12902	protein-coding gene	gene with protein product		194536	"""zinc finger protein 325"""	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.897T>A	7.37:g.6731676A>T	ENSP00000385939:p.Cys299*					ZNF12_uc011jxa.1_Nonsense_Mutation_p.C137*|ZNF12_uc003sqs.1_Nonsense_Mutation_p.C261*	p.C299*	NM_016265	NP_057349	P17014	ZNF12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)	5	1451	-		Ovarian(82;0.0776)	299			C2H2-type 2.		A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Nonsense_Mutation	SNP	ENST00000405858.1	37	c.897T>A	CCDS47538.1	.	.	.	.	.	.	.	.	.	.	A	40	8.098089	0.98654	.	.	ENSG00000164631	ENST00000404360;ENST00000405858;ENST00000342651;ENST00000399476;ENST00000330442	.	.	.	4.03	1.71	0.24356	.	0.000000	0.47093	D	0.000258	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.4181	0.21728	0.7788:0.0:0.2212:0.0	.	.	.	.	X	225;299;261;357;263	.	ENSP00000331039:C263X	C	-	3	2	ZNF12	6698201	0.102000	0.21896	0.320000	0.25306	0.984000	0.73092	0.455000	0.21843	0.383000	0.24910	0.460000	0.39030	TGT		0.423	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324373.2	NM_016265		70	51	0	0	0	0	70	51				
WIPF3	644150	broad.mit.edu	37	7	29923502	29923502	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:29923502C>T	ENST00000409290.1	+	4	392	c.392C>T	c.(391-393)cCc>cTc	p.P131L	WIPF3_ENST00000409123.1_Missense_Mutation_p.P131L|WIPF3_ENST00000242140.5_Missense_Mutation_p.P131L	NM_001080529.2	NP_001073998.2	A6NGB9	WIPF3_HUMAN	WAS/WASL interacting protein family, member 3	131					cell differentiation (GO:0030154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)				breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						TCCCGCGCGCCCTCTCCCAGG	0.627																																						uc003taj.1		NA																	0				ovary(1)	1						c.(391-393)CCC>CTC		WAS/WASL interacting protein family, member 3							9.0	11.0	10.0					7																	29923502		1779	3969	5748	SO:0001583	missense	644150							g.chr7:29923502C>T	AK094250	CCDS56472.1	7p15.1	2006-10-12			ENSG00000122574	ENSG00000122574			22004	protein-coding gene	gene with protein product		612432					Standard	NM_001080529		Approved	CR16, FLJ36931	uc022aaz.1	A6NGB9	OTTHUMG00000152761	ENST00000409290.1:c.392C>T	7.37:g.29923502C>T	ENSP00000386878:p.Pro131Leu						p.P131L	NM_001080529	NP_001073998	A6NGB9	WIPF3_HUMAN			4	392	+			131					B8ZZV2	Missense_Mutation	SNP	ENST00000409290.1	37	c.392C>T	CCDS56472.1	.	.	.	.	.	.	.	.	.	.	c	16.75	3.210576	0.58343	.	.	ENSG00000122574	ENST00000409123;ENST00000409290;ENST00000242140	T;T;T	0.46819	0.86;0.86;0.86	4.84	4.84	0.62591	.	0.616184	0.13089	N	0.414674	T	0.63034	0.2477	M	0.68952	2.095	0.41478	D	0.988146	D	0.69078	0.997	P	0.60682	0.878	T	0.58515	-0.7623	10	0.34782	T	0.22	.	13.8041	0.63220	0.0:1.0:0.0:0.0	.	131	A6NGB9	WIPF3_HUMAN	L	131	ENSP00000386790:P131L;ENSP00000386878:P131L;ENSP00000242140:P131L	ENSP00000242140:P131L	P	+	2	0	WIPF3	29890027	0.994000	0.37717	0.887000	0.34795	0.821000	0.46438	4.249000	0.58766	2.390000	0.81377	0.543000	0.68304	CCC		0.627	WIPF3-002	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327705.1			6	18	0	0	0	0	6	18				
DDX56	54606	broad.mit.edu	37	7	44610375	44610375	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:44610375C>T	ENST00000258772.5	-	7	1098	c.992G>A	c.(991-993)cGa>cAa	p.R331Q	DDX56_ENST00000431640.1_Intron|DDX56_ENST00000485367.1_5'UTR	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	331	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						TTTGGGCCCTCGGCCCCGACG	0.527																																						uc003tlg.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(991-993)CGA>CAA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 56							94.0	97.0	96.0					7																	44610375		2203	4300	6503	SO:0001583	missense	54606				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding	g.chr7:44610375C>T	AJ131712	CCDS5492.1, CCDS59053.1	7p13	2012-02-23	2012-02-23		ENSG00000136271	ENSG00000136271		"""DEAD-boxes"""	18193	protein-coding gene	gene with protein product	"""nucleolar helicase of 61 kDa"""	608023	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 56"""			10749921	Standard	NM_019082		Approved	NOH61	uc003tlg.4	Q9NY93	OTTHUMG00000129211	ENST00000258772.5:c.992G>A	7.37:g.44610375C>T	ENSP00000258772:p.Arg331Gln					DDX56_uc003tle.2_RNA|DDX56_uc003tlf.2_Missense_Mutation_p.R267Q|DDX56_uc003tlh.2_RNA|DDX56_uc010kyg.2_Intron|DDX56_uc010kyh.1_RNA	p.R331Q	NM_019082	NP_061955	Q9NY93	DDX56_HUMAN			7	1635	-			331			Helicase C-terminal.		A4D2K9|C9JV95|Q6IAE2|Q9H9I8	Missense_Mutation	SNP	ENST00000258772.5	37	c.992G>A	CCDS5492.1	.	.	.	.	.	.	.	.	.	.	.	12.15	1.850554	0.32699	.	.	ENSG00000136271	ENST00000258772	T	0.03663	3.85	5.96	0.256	0.15567	Helicase, C-terminal (2);	0.601186	0.17378	N	0.176395	T	0.02533	0.0077	N	0.12746	0.255	0.20307	N	0.999919	B	0.06786	0.001	B	0.01281	0.0	T	0.43718	-0.9374	10	0.27082	T	0.32	-2.5006	13.8054	0.63227	0.0:0.8353:0.0:0.1647	.	331	Q9NY93	DDX56_HUMAN	Q	331	ENSP00000258772:R331Q	ENSP00000258772:R331Q	R	-	2	0	DDX56	44576900	0.983000	0.35010	0.797000	0.32132	0.814000	0.46013	0.843000	0.27640	0.078000	0.16900	0.655000	0.94253	CGA		0.527	DDX56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251291.1	NM_019082		32	75	0	0	0	0	32	75				
PKD1L1	168507	broad.mit.edu	37	7	47924243	47924243	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:47924243T>C	ENST00000289672.2	-	19	3268	c.3218A>G	c.(3217-3219)tAt>tGt	p.Y1073C		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1073	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GTCACTGTAATAGGCTTCAAA	0.448																																						uc003tny.1		NA																	0				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(3217-3219)TAT>TGT		polycystin-1L1							139.0	126.0	130.0					7																	47924243		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47924243T>C	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.3218A>G	7.37:g.47924243T>C	ENSP00000289672:p.Tyr1073Cys						p.Y1073C	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			19	3218	-			1073			Extracellular (Potential).|REJ.		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.3218A>G	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	T	14.35	2.508349	0.44660	.	.	ENSG00000158683	ENST00000289672	T	0.20598	2.06	5.76	3.26	0.37387	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	0.648666	0.13690	N	0.369601	T	0.36082	0.0954	L	0.50333	1.59	0.24947	N	0.991816	D	0.89917	1.0	D	0.72982	0.979	T	0.09997	-1.0649	10	0.42905	T	0.14	-8.7997	8.2752	0.31868	0.318:0.0:0.0:0.682	.	1073	Q8TDX9	PK1L1_HUMAN	C	1073	ENSP00000289672:Y1073C	ENSP00000289672:Y1073C	Y	-	2	0	PKD1L1	47890768	1.000000	0.71417	0.672000	0.29872	0.824000	0.46624	1.417000	0.34770	0.389000	0.25086	0.529000	0.55759	TAT		0.448	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		9	29	0	0	0	0	9	29				
IKZF1	10320	broad.mit.edu	37	7	50358680	50358680	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:50358680A>G	ENST00000331340.3	+	2	178	c.23A>G	c.(22-24)gAc>gGc	p.D8G	IKZF1_ENST00000349824.4_Missense_Mutation_p.D8G|IKZF1_ENST00000346667.4_Missense_Mutation_p.D8G|IKZF1_ENST00000359197.5_Missense_Mutation_p.D8G|IKZF1_ENST00000343574.5_Missense_Mutation_p.D8G|IKZF1_ENST00000438033.1_Missense_Mutation_p.D8G|IKZF1_ENST00000413698.1_Missense_Mutation_p.D8G|IKZF1_ENST00000357364.4_Missense_Mutation_p.D8G|IKZF1_ENST00000439701.1_Missense_Mutation_p.D8G|IKZF1_ENST00000440768.2_Missense_Mutation_p.D8G|IKZF1_ENST00000492782.1_3'UTR	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	8					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(41)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GAGGGTCAAGACATGTCCCAA	0.438			"""D,T"""	BCL6	"""ALL, DLBCL"""																																	uc003tow.3		NA		"""Rec,Dom"""	yes		7	7p12.2	10320	D	IKAROS family zinc finger 1			L			ALL		41	Unknown(41)	p.?(24)	haematopoietic_and_lymphoid_tissue(41)	haematopoietic_and_lymphoid_tissue(147)|lung(1)	148						c.(22-24)GAC>GGC		zinc finger protein, subfamily 1A, 1 (Ikaros)							228.0	205.0	212.0					7																	50358680		1568	3582	5150	SO:0001583	missense	10320				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	g.chr7:50358680A>G	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.23A>G	7.37:g.50358680A>G	ENSP00000331614:p.Asp8Gly					IKZF1_uc003tox.3_Missense_Mutation_p.D8G|IKZF1_uc003toy.3_Missense_Mutation_p.D8G|IKZF1_uc011kck.1_Missense_Mutation_p.D8G|IKZF1_uc003tov.1_Missense_Mutation_p.D8G	p.D8G	NM_006060	NP_006051	Q13422	IKZF1_HUMAN			3	191	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	8					A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Missense_Mutation	SNP	ENST00000331340.3	37	c.23A>G		.	.	.	.	.	.	.	.	.	.	A	12.42	1.933805	0.34096	.	.	ENSG00000185811	ENST00000413698;ENST00000346667;ENST00000343574;ENST00000359197;ENST00000440768;ENST00000349824;ENST00000357364;ENST00000331340;ENST00000438033;ENST00000439701	T;T;T;T;T;T;T;T;T	0.07908	4.47;3.23;3.28;3.15;4.25;3.36;3.28;3.23;3.28	5.86	5.86	0.93980	.	0.046101	0.85682	D	0.000000	T	0.25901	0.0631	.	.	.	0.58432	D	0.999999	D;P;B;D	0.89917	0.986;0.743;0.104;1.0	P;B;B;D	0.87578	0.616;0.392;0.049;0.998	T	0.01323	-1.1385	9	0.24483	T	0.36	0.5038	16.2436	0.82429	1.0:0.0:0.0:0.0	.	8;8;8;8	Q13422-2;Q13422-7;Q13422;C9JTB0	.;.;IKZF1_HUMAN;.	G	8	ENSP00000340080:D8G;ENSP00000342750:D8G;ENSP00000352123:D8G;ENSP00000401507:D8G;ENSP00000342485:D8G;ENSP00000349928:D8G;ENSP00000331614:D8G;ENSP00000396554:D8G;ENSP00000413025:D8G	ENSP00000331614:D8G	D	+	2	0	IKZF1	50329225	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.874000	0.87199	2.232000	0.73038	0.533000	0.62120	GAC		0.438	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060		45	138	0	0	0	0	45	138				
IKZF1	10320	broad.mit.edu	37	7	50450284	50450284	+	Silent	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:50450284G>A	ENST00000331340.3	+	5	623	c.468G>A	c.(466-468)caG>caA	p.Q156Q	IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000359197.5_Silent_p.Q156Q|IKZF1_ENST00000343574.5_Silent_p.Q69Q|IKZF1_ENST00000438033.1_Silent_p.Q69Q|IKZF1_ENST00000357364.4_Silent_p.Q156Q|IKZF1_ENST00000439701.1_Silent_p.Q156Q|IKZF1_ENST00000440768.2_Silent_p.Q156Q	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	156	Required for both high-affinity DNA binding and pericentromeric heterochromatin localization. {ECO:0000250}.				B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CATTCACCCAGAAGGGCAACC	0.612			"""D,T"""	BCL6	"""ALL, DLBCL"""																																	uc003tow.3		NA		"""Rec,Dom"""	yes		7	7p12.2	10320	D	IKAROS family zinc finger 1			L			ALL		131	Unknown(131)	p.?(74)	haematopoietic_and_lymphoid_tissue(131)	haematopoietic_and_lymphoid_tissue(147)|lung(1)	148						c.(466-468)CAG>CAA		zinc finger protein, subfamily 1A, 1 (Ikaros)							31.0	36.0	34.0					7																	50450284		2146	4259	6405	SO:0001819	synonymous_variant	10320				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	g.chr7:50450284G>A	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.468G>A	7.37:g.50450284G>A						IKZF1_uc003tox.3_Silent_p.Q156Q|IKZF1_uc003toy.3_Silent_p.Q156Q|IKZF1_uc011kck.1_Silent_p.Q69Q|IKZF1_uc003toz.3_Silent_p.Q126Q|IKZF1_uc010kyx.2_Intron	p.Q156Q	NM_006060	NP_006051	Q13422	IKZF1_HUMAN			6	636	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	156			Required for both high-affinity DNA binding and pericentromeric heterochromatin localization (By similarity).|C2H2-type 2.		A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Silent	SNP	ENST00000331340.3	37	c.468G>A																																																																																					0.612	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060		7	21	0	0	0	0	7	21				
POM121	9883	broad.mit.edu	37	7	72413639	72413639	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:72413639C>T	ENST00000434423.2	+	11	3107	c.3107C>T	c.(3106-3108)tCg>tTg	p.S1036L	POM121_ENST00000358357.3_Missense_Mutation_p.S771L|POM121_ENST00000257622.4_Missense_Mutation_p.S771L|POM121_ENST00000446813.1_Missense_Mutation_p.S771L|POM121_ENST00000395270.1_Missense_Mutation_p.S771L			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1036	Pore side. {ECO:0000255}.				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)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GCCACGCACTCGGCGTTTGGG	0.652																																						uc003twk.2		NA																	0					0						c.(3106-3108)TCG>TTG		nuclear pore membrane protein 121																																				SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72413639C>T	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.3107C>T	7.37:g.72413639C>T	ENSP00000405562:p.Ser1036Leu					POM121_uc003twj.2_Missense_Mutation_p.S771L|POM121_uc010lam.1_Missense_Mutation_p.S771L	p.S1036L	NM_172020	NP_742017	Q96HA1	P121A_HUMAN			11	3107	+		Lung NSC(55;0.163)	1036			Pore side (Potential).		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.3107C>T		.	.	.	.	.	.	.	.	.	.	C	11.82	1.751942	0.31046	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.08546	3.08;3.12;3.08;3.12;3.34	1.99	1.09	0.20402	.	1.017110	0.07912	N	0.974425	T	0.10165	0.0249	M	0.73962	2.25	0.09310	N	1	B;P	0.39404	0.236;0.672	B;B	0.31245	0.036;0.126	T	0.28713	-1.0035	10	0.52906	T	0.07	.	6.5317	0.22330	0.0:0.8457:0.0:0.1543	.	771;1036	A8MXF9;Q96HA1	.;P121A_HUMAN	L	771;771;771;771;1036	ENSP00000393020:S771L;ENSP00000257622:S771L;ENSP00000378687:S771L;ENSP00000351124:S771L;ENSP00000405562:S1036L	ENSP00000257622:S771L	S	+	2	0	POM121	72051575	0.003000	0.15002	0.000000	0.03702	0.026000	0.11368	0.587000	0.23909	0.402000	0.25451	0.173000	0.16961	TCG		0.652	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			10	63	0	0	0	0	10	63				
HIP1	3092	broad.mit.edu	37	7	75168691	75168691	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:75168691G>A	ENST00000336926.6	-	30	3039	c.3013C>T	c.(3013-3015)Cgg>Tgg	p.R1005W	HIP1_ENST00000434438.2_Missense_Mutation_p.R954W	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	1005	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				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						TGCTTTTTCCGAAGCTCTCCC	0.502			T	PDGFRB	CMML																																	uc003uds.1		NA		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.(3013-3015)CGG>TGG		huntingtin interacting protein 1							291.0	284.0	287.0					7																	75168691		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.chr7:75168691G>A	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.3013C>T	7.37:g.75168691G>A	ENSP00000336747:p.Arg1005Trp					HIP1_uc011kfz.1_Missense_Mutation_p.R831W	p.R1005W	NM_005338	NP_005329	O00291	HIP1_HUMAN			30	3054	-			1005	R->E: Reduces AR-induced nuclear translocation.		I/LWEQ.		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	37	c.3013C>T	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.089654	0.76756	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.68903	-0.36;-0.36	5.31	3.42	0.39159	I/LWEQ (4);	0.000000	0.85682	D	0.000000	D	0.86075	0.5846	H	0.95079	3.62	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88976	0.3404	10	0.87932	D	0	-23.0443	13.3248	0.60452	0.0:0.0:0.7263:0.2736	.	954;1005	E7ES17;O00291	.;HIP1_HUMAN	W	1005;954	ENSP00000336747:R1005W;ENSP00000410300:R954W	ENSP00000336747:R1005W	R	-	1	2	HIP1	75006627	1.000000	0.71417	0.938000	0.37757	0.999000	0.98932	4.716000	0.61916	0.670000	0.31165	0.655000	0.94253	CGG		0.502	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		85	293	0	0	0	0	85	293				
PCLO	27445	broad.mit.edu	37	7	82585126	82585126	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:82585126C>G	ENST00000333891.9	-	5	5480	c.5143G>C	c.(5143-5145)Gag>Cag	p.E1715Q	PCLO_ENST00000423517.2_Missense_Mutation_p.E1715Q	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAAGATCCCTCTCCCCTTGAC	0.463																																						uc003uhx.2		NA																	0				ovary(7)	7						c.(5143-5145)GAG>CAG		piccolo isoform 1							101.0	96.0	98.0					7																	82585126		1950	4155	6105	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82585126C>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.5143G>C	7.37:g.82585126C>G	ENSP00000334319:p.Glu1715Gln					PCLO_uc003uhv.2_Missense_Mutation_p.E1715Q	p.E1715Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	5432	-			1646						Missense_Mutation	SNP	ENST00000333891.9	37	c.5143G>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.835489	0.32421	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.21932	1.98;1.98	5.56	5.56	0.83823	.	.	.	.	.	T	0.48660	0.1512	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.982	T	0.47787	-0.9090	9	0.87932	D	0	.	19.5248	0.95199	0.0:1.0:0.0:0.0	.	1715;1715	Q9Y6V0-5;Q9Y6V0-6	.;.	Q	1646;1715;1715	ENSP00000334319:E1715Q;ENSP00000388393:E1715Q	ENSP00000334319:E1715Q	E	-	1	0	PCLO	82423062	0.996000	0.38824	0.998000	0.56505	0.951000	0.60555	3.186000	0.50942	2.624000	0.88883	0.650000	0.86243	GAG		0.463	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		21	48	0	0	0	0	21	48				
STEAP4	79689	broad.mit.edu	37	7	87908865	87908865	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:87908865A>T	ENST00000380079.4	-	5	1329	c.1228T>A	c.(1228-1230)Tca>Aca	p.S410T	AC003991.3_ENST00000594469.1_RNA|STEAP4_ENST00000301959.5_Missense_Mutation_p.S234T|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000595121.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	410					copper ion import (GO:0015677)|fat cell differentiation (GO:0045444)|ferric iron import into cell (GO:0097461)|iron ion homeostasis (GO:0055072)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					CTGAGATTTGAAGGGCTGAGG	0.448																																						uc003ujs.2		NA																	0					0						c.(1228-1230)TCA>ACA		tumor necrosis factor, alpha-induced protein 9							110.0	116.0	114.0					7																	87908865		1980	4152	6132	SO:0001583	missense	79689				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:87908865A>T	AK026806	CCDS43611.1, CCDS56494.1	7q21.13	2014-01-28	2005-06-15	2005-06-15	ENSG00000127954	ENSG00000127954			21923	protein-coding gene	gene with protein product		611098	"""tumor necrosis factor, alpha-induced protein 9"""	TNFAIP9		11443137, 15897894	Standard	NM_024636		Approved	FLJ23153, TIARP, STAMP2	uc003ujs.3	Q687X5	OTTHUMG00000153853	ENST00000380079.4:c.1228T>A	7.37:g.87908865A>T	ENSP00000369419:p.Ser410Thr					STEAP4_uc010lek.2_Missense_Mutation_p.S234T	p.S410T	NM_024636	NP_078912	Q687X5	STEA4_HUMAN			5	1333	-	Esophageal squamous(14;0.00802)		410					Q658Q9|Q687X4|Q8WWB0|Q9H5R1	Missense_Mutation	SNP	ENST00000380079.4	37	c.1228T>A	CCDS43611.1	.	.	.	.	.	.	.	.	.	.	A	11.33	1.607650	0.28623	.	.	ENSG00000127954	ENST00000380079;ENST00000301959	T;T	0.12255	3.19;2.7	5.8	3.33	0.38152	.	1.044030	0.07488	N	0.905105	T	0.16385	0.0394	L	0.52126	1.63	0.80722	D	1	B;B	0.30455	0.28;0.022	B;B	0.32289	0.143;0.004	T	0.04752	-1.0929	10	0.19590	T	0.45	-2.5586	12.3824	0.55313	0.7336:0.2664:0.0:0.0	.	234;410	Q687X5-2;Q687X5	.;STEA4_HUMAN	T	410;234	ENSP00000369419:S410T;ENSP00000305545:S234T	ENSP00000305545:S234T	S	-	1	0	STEAP4	87746801	0.997000	0.39634	0.735000	0.30896	0.483000	0.33249	1.458000	0.35223	0.410000	0.25675	0.533000	0.62120	TCA		0.448	STEAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332712.4	NM_024636		22	32	0	0	0	0	22	32				
AKAP9	10142	broad.mit.edu	37	7	91695764	91695764	+	Silent	SNP	T	T	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:91695764T>C	ENST00000359028.2	+	27	6495	c.6270T>C	c.(6268-6270)caT>caC	p.H2090H	AKAP9_ENST00000356239.3_Silent_p.H2078H|AKAP9_ENST00000358100.2_Silent_p.H2090H			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2090	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACAGAGAACATGAGAGAGATG	0.358			T	BRAF	papillary thyroid																																	uc003ulg.2		NA		Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(6232-6234)CAT>CAC		A-kinase anchor protein 9 isoform 2							82.0	79.0	80.0					7																	91695764		2203	4300	6503	SO:0001819	synonymous_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91695764T>C	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.6270T>C	7.37:g.91695764T>C						AKAP9_uc003ulf.2_Silent_p.H2078H|AKAP9_uc003uli.2_Silent_p.H1701H	p.H2078H	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		26	6459	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		2090			Potential.|Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37	c.6234T>C																																																																																					0.358	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		15	58	0	0	0	0	15	58				
LRRN3	54674	broad.mit.edu	37	7	110763135	110763135	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:110763135A>T	ENST00000422987.3	+	2	1138	c.307A>T	c.(307-309)Aat>Tat	p.N103Y	IMMP2L_ENST00000452895.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.N103Y|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.N103Y|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000415362.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	103					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		ATCTCAAAACAATTTATCTTC	0.353																																						uc003vft.3		NA																	0				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8						c.(307-309)AAT>TAT		leucine rich repeat neuronal 3 precursor							48.0	48.0	48.0					7																	110763135		2203	4299	6502	SO:0001583	missense	54674					integral to membrane		g.chr7:110763135A>T	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.307A>T	7.37:g.110763135A>T	ENSP00000412417:p.Asn103Tyr					IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.N103Y|LRRN3_uc003vfs.3_Missense_Mutation_p.N103Y	p.N103Y	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	1353	+			103			Extracellular (Potential).|LRR 2.		O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	37	c.307A>T	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	A	15.72	2.915927	0.52546	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987;ENST00000421101	T;T;T;T	0.26223	1.75;1.75;1.75;4.2	6.16	6.16	0.99307	.	0.000000	0.64402	D	0.000006	T	0.45438	0.1342	L	0.58810	1.83	0.54753	D	0.999988	D	0.64830	0.994	P	0.60173	0.87	T	0.28138	-1.0053	10	0.52906	T	0.07	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	103	Q9H3W5	LRRN3_HUMAN	Y	103	ENSP00000312001:N103Y;ENSP00000397312:N103Y;ENSP00000412417:N103Y;ENSP00000407927:N103Y	ENSP00000312001:N103Y	N	+	1	0	LRRN3	110550371	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.367000	0.80283	0.528000	0.53228	AAT		0.353	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		5	35	0	0	0	0	5	35				
MGAM	8972	broad.mit.edu	37	7	141797392	141797392	+	Splice_Site	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:141797392G>C	ENST00000549489.2	+	43	5099		c.e43-1		MGAM_ENST00000475668.2_Splice_Site	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)						carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTTCATTTTAGAATGCCAGAA	0.398																																						uc003vwy.2		NA																	0				ovary(2)	2						c.e43-1		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						123.0	113.0	116.0					7																	141797392		1874	4109	5983	SO:0001630	splice_region_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141797392G>C	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.5005-1G>C	7.37:g.141797392G>C							p.N1669_splice	NM_004668	NP_004659	O43451	MGA_HUMAN			43	5059	+	Melanoma(164;0.0272)							Q0VAX6|Q75ME7|Q86UM5	Splice_Site	SNP	ENST00000549489.2	37	c.5005_splice	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.889100	0.52014	.	.	ENSG00000257335	ENST00000549489;ENST00000475668	.	.	.	4.7	3.82	0.43975	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.2361	0.37466	0.1769:0.0:0.8231:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MGAM	141443861	1.000000	0.71417	0.996000	0.52242	0.923000	0.55619	6.583000	0.74053	1.335000	0.45486	0.591000	0.81541	.		0.398	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3		Intron	16	36	0	0	0	0	16	36				
CSMD3	114788	broad.mit.edu	37	8	114110999	114110999	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr8:114110999C>A	ENST00000297405.5	-	5	1147	c.903G>T	c.(901-903)gaG>gaT	p.E301D	CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000352409.3_Missense_Mutation_p.E301D|CSMD3_ENST00000455883.2_Missense_Mutation_p.E301D|CSMD3_ENST00000343508.3_Missense_Mutation_p.E261D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	301	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGGTAGGTGGCTCAGAACCTT	0.363										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(901-903)GAG>GAT		CUB and Sushi multiple domains 3 isoform 1							94.0	95.0	95.0					8																	114110999		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:114110999C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.903G>T	8.37:g.114110999C>A	ENSP00000297405:p.Glu301Asp	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.2_Missense_Mutation_p.E261D|CSMD3_uc011lhx.1_Missense_Mutation_p.E301D|CSMD3_uc010mcx.1_Missense_Mutation_p.E301D	p.E301D	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			5	1062	-			301			Extracellular (Potential).|CUB 2.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.903G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962996	0.34659	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.28	5.4	0.32	0.15878	CUB (5);	0.000000	0.64402	D	0.000001	D	0.89008	0.6593	N	0.16708	0.43	0.24763	N	0.992912	B;B;B;P	0.46142	0.001;0.001;0.017;0.873	B;B;B;P	0.58873	0.004;0.002;0.032;0.847	T	0.79964	-0.1581	10	0.30078	T	0.28	.	2.6427	0.04975	0.1119:0.3938:0.1094:0.3849	.	301;301;301;261	Q7Z407-3;Q7Z407-4;Q7Z407;Q7Z407-2	.;.;CSMD3_HUMAN;.	D	261;301;301;301	ENSP00000345799:E261D;ENSP00000297405:E301D;ENSP00000412263:E301D;ENSP00000343124:E301D	ENSP00000297405:E301D	E	-	3	2	CSMD3	114180175	0.190000	0.23276	0.995000	0.50966	0.991000	0.79684	-0.463000	0.06696	-0.149000	0.11215	0.650000	0.86243	GAG		0.363	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		4	60	1	0	0.00909568	0.00949598	4	60				
OC90	729330	broad.mit.edu	37	8	133048660	133048660	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr8:133048660C>A	ENST00000443356.2	-	10	771	c.685G>T	c.(685-687)Gca>Tca	p.A229S	OC90_ENST00000603859.1_Intron|OC90_ENST00000254627.3_Intron|OC90_ENST00000262283.5_Missense_Mutation_p.A425S			Q02509	OC90_HUMAN	otoconin 90	229					lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)	p.A425S(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			TCAGTCTCTGCAGCCACTGTG	0.463																																						uc003ytg.2		NA																	1	Substitution - Missense(1)		prostate(1)	ovary(2)|skin(1)	3						c.(637-639)GCA>TCA		otoconin 90							104.0	99.0	100.0					8																	133048660		1905	4130	6035	SO:0001583	missense	729330				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	g.chr8:133048660C>A	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.685G>T	8.37:g.133048660C>A	ENSP00000390050:p.Ala229Ser					OC90_uc011lix.1_Intron	p.A213S	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)		8	637	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		229					B4DNG8	Missense_Mutation	SNP	ENST00000443356.2	37	c.637G>T		.	.	.	.	.	.	.	.	.	.	C	5.732	0.319582	0.10845	.	.	ENSG00000253117;ENSG00000258417	ENST00000443356;ENST00000262283	T;T	0.31510	1.51;1.49	3.99	-2.31	0.06765	.	2.372800	0.01468	N	0.016174	T	0.13415	0.0325	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.07654	-1.0761	9	0.14656	T	0.56	0.6825	0.9035	0.01279	0.1508:0.2769:0.2949:0.2773	.	229	Q02509	OC90_HUMAN	S	229;425	ENSP00000390050:A229S;ENSP00000262283:A425S	ENSP00000262283:A425S	A	-	1	0	RP11-240B13.2;OC90	133117842	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.970000	0.03810	-0.502000	0.06596	-0.379000	0.06801	GCA		0.463	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		16	100	1	0	0.000566183	0.000604401	16	100				
KCNQ3	3786	broad.mit.edu	37	8	133153390	133153390	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr8:133153390C>A	ENST00000388996.4	-	10	1871	c.1451G>T	c.(1450-1452)tGg>tTg	p.W484L	KCNQ3_ENST00000521134.1_Missense_Mutation_p.W364L|KCNQ3_ENST00000519445.1_Missense_Mutation_p.W484L	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	484					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	AGAACTCTGCCAGAAAGCGTA	0.493																																						uc003ytj.2		NA																	0				ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(1450-1452)TGG>TTG		potassium voltage-gated channel KQT-like protein							107.0	112.0	110.0					8																	133153390		2203	4300	6503	SO:0001583	missense	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133153390C>A	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1451G>T	8.37:g.133153390C>A	ENSP00000373648:p.Trp484Leu					KCNQ3_uc010mdt.2_Missense_Mutation_p.W484L	p.W484L	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		10	1676	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		484					A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	c.1451G>T	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857991	0.71834	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.98889	-5.19;-5.16;-5.21	5.63	5.63	0.86233	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.182778	0.48767	D	0.000164	D	0.96361	0.8813	N	0.22421	0.69	0.53688	D	0.999976	P;P	0.38280	0.625;0.625	B;B	0.37508	0.252;0.252	D	0.96167	0.9120	10	0.42905	T	0.14	-12.5302	18.6978	0.91607	0.0:1.0:0.0:0.0	.	484;484	E7ET42;O43525	.;KCNQ3_HUMAN	L	484;364;484;473;363	ENSP00000373648:W484L;ENSP00000429799:W364L;ENSP00000428790:W484L	ENSP00000373648:W484L	W	-	2	0	KCNQ3	133222572	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.164000	0.77533	2.652000	0.90054	0.655000	0.94253	TGG		0.493	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		36	81	1	0	1.7e-12	1.92e-12	36	81				
TRAPPC9	83696	broad.mit.edu	37	8	140744287	140744287	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr8:140744287C>T	ENST00000438773.2	-	22	3347	c.3214G>A	c.(3214-3216)Gtg>Atg	p.V1072M	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.V1063M|TRAPPC9_ENST00000522504.1_5'UTR|TRAPPC9_ENST00000389328.4_Missense_Mutation_p.V1170M	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	1072					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						TAGTTGTGCACGCCGTTCTGG	0.682																																						uc003yvj.2		NA																	0				skin(2)	2						c.(3214-3216)GTG>ATG		trafficking protein particle complex 9 isoform							116.0	98.0	104.0					8																	140744287		2202	4299	6501	SO:0001583	missense	83696				cell differentiation	endoplasmic reticulum|Golgi apparatus		g.chr8:140744287C>T	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.3214G>A	8.37:g.140744287C>T	ENSP00000405060:p.Val1072Met					TRAPPC9_uc003yvh.2_Missense_Mutation_p.V1170M	p.V1072M	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN			22	3348	-			1072					Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	ENST00000438773.2	37	c.3214G>A	CCDS55278.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.958025|3.958025	0.73902|0.73902	.|.	.|.	ENSG00000167632|ENSG00000167632	ENST00000520857|ENST00000389328;ENST00000389327;ENST00000438773	.|.	.|.	.|.	4.27|4.27	4.27|4.27	0.50696|0.50696	.|.	.|0.000000	.|0.64402	.|D	.|0.000002	T|T	0.62539|0.62539	0.2436|0.2436	N|N	0.21373|0.21373	0.66|0.66	0.58432|0.58432	D|D	0.999994|0.999994	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.71414	.|0.973;0.938	T|T	0.63941|0.63941	-0.6523|-0.6523	5|9	.|0.40728	.|T	.|0.16	.|.	16.2339|16.2339	0.82361|0.82361	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1072;1170	.|Q96Q05;Q96Q05-2	.|TPPC9_HUMAN;.	H|M	915|1170;1063;1072	.|.	.|ENSP00000373978:V1063M	R|V	-|-	2|1	0|0	TRAPPC9|TRAPPC9	140813469|140813469	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.855000|6.855000	0.75445|0.75445	2.352000|2.352000	0.79861|0.79861	0.650000|0.650000	0.86243|0.86243	CGT|GTG		0.682	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		3	16	0	0	0	0	3	16				
TOP1MT	116447	broad.mit.edu	37	8	144406249	144406249	+	Missense_Mutation	SNP	G	G	A	rs144092447		TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr8:144406249G>A	ENST00000329245.4	-	7	914	c.880C>T	c.(880-882)Cgc>Tgc	p.R294C	TOP1MT_ENST00000523676.1_Missense_Mutation_p.R196C|TOP1MT_ENST00000519148.1_Missense_Mutation_p.R196C|TOP1MT_ENST00000521193.1_Missense_Mutation_p.R196C	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	294					DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	TACTGGGAGCGGATCTCGTCC	0.527													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18809	0.0		0.0	False		,,,				2504	0.0					uc003yxz.2		NA																	0				ovary(1)	1						c.(880-882)CGC>TGC		mitochondrial topoisomerase I precursor	Irinotecan(DB00762)|Topotecan(DB01030)	G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	110.0	123.0	119.0		880	1.4	0.3	8	dbSNP_134	119	0,8600		0,0,4300	no	missense	TOP1MT	NM_052963.1	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	294/602	144406249	1,13005	2203	4300	6503	SO:0001583	missense	116447				DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity	g.chr8:144406249G>A	AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.880C>T	8.37:g.144406249G>A	ENSP00000328835:p.Arg294Cys					TOP1MT_uc011lkd.1_Missense_Mutation_p.R196C|TOP1MT_uc011lke.1_Missense_Mutation_p.R196C|TOP1MT_uc010mfb.2_Missense_Mutation_p.R196C|TOP1MT_uc011lkf.1_Missense_Mutation_p.R89C|TOP1MT_uc010mfd.1_Missense_Mutation_p.R89C	p.R294C	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		7	899	-	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		294					B7ZAR5|E7ES89|Q86ST4|Q86V82	Missense_Mutation	SNP	ENST00000329245.4	37	c.880C>T	CCDS6400.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	17.14	3.313649	0.60414	2.27E-4	0.0	ENSG00000184428	ENST00000329245;ENST00000521193;ENST00000519148;ENST00000523676;ENST00000522041;ENST00000519591	T;T;T;T;T;T	0.62232	0.3;0.3;0.3;0.3;0.3;0.04	3.4	1.39	0.22231	DNA breaking-rejoining enzyme, catalytic core (1);DNA topoisomerase I, C-terminal, eukaryotic-type (1);DNA topoisomerase I, catalytic core, eukaryotic-type (1);DNA topoisomerase I, catalytic core, alpha-helical subdomain, eukaryotic-type (1);	0.327287	0.21616	N	0.071719	T	0.78767	0.4335	M	0.92169	3.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.75088	-0.3441	10	0.87932	D	0	-3.1077	3.9136	0.09213	0.2258:0.0:0.5956:0.1786	.	89;294	E7ESI1;Q969P6	.;TOP1M_HUMAN	C	294;196;196;196;196;196	ENSP00000328835:R294C;ENSP00000428369:R196C;ENSP00000429169:R196C;ENSP00000429181:R196C;ENSP00000427998:R196C;ENSP00000429177:R196C	ENSP00000328835:R294C	R	-	1	0	TOP1MT	144477624	1.000000	0.71417	0.302000	0.25058	0.050000	0.14768	1.284000	0.33249	0.333000	0.23563	0.411000	0.27672	CGC		0.527	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381247.3	NM_052963		4	206	0	0	0	0	4	206				
EPPK1	83481	broad.mit.edu	37	8	144947143	144947143	+	Silent	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr8:144947143G>A	ENST00000525985.1	-	2	350	c.279C>T	c.(277-279)ctC>ctT	p.L93L				P58107	EPIPL_HUMAN	epiplakin 1	93						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGACACAGGGAGCAGCTGGC	0.701																																						uc003zaa.1		NA																	0				pancreas(1)|skin(1)	2						c.(277-279)CTC>CTT		epiplakin 1							13.0	17.0	15.0					8																	144947143		1944	4147	6091	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144947143G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.279C>T	8.37:g.144947143G>A							p.L93L	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		1	292	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		93			Plectin 2.		Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.279C>T																																																																																					0.701	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		5	24	0	0	0	0	5	24				
PTPRD	5789	broad.mit.edu	37	9	8525016	8525016	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr9:8525016C>G	ENST00000381196.4	-	15	1131	c.588G>C	c.(586-588)caG>caC	p.Q196H	PTPRD_ENST00000486161.1_Missense_Mutation_p.Q196H|PTPRD_ENST00000397617.3_Missense_Mutation_p.Q190H|PTPRD_ENST00000540109.1_Missense_Mutation_p.Q196H|PTPRD_ENST00000356435.5_Missense_Mutation_p.Q196H|PTPRD_ENST00000397606.3_Missense_Mutation_p.Q190H|PTPRD_ENST00000397611.3_Missense_Mutation_p.Q193H|PTPRD_ENST00000537002.1_Missense_Mutation_p.Q193H|PTPRD_ENST00000360074.4_Missense_Mutation_p.Q187H|PTPRD_ENST00000358503.5_Missense_Mutation_p.Q187H|PTPRD_ENST00000355233.5_Missense_Mutation_p.Q196H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	196	Ig-like C2-type 2.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ACTCTTCACTCTGCTCAATCT	0.433										TSP Lung(15;0.13)																												uc003zkk.2		NA																	0				lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(586-588)CAG>CAC		protein tyrosine phosphatase, receptor type, D							157.0	162.0	161.0					9																	8525016		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8525016C>G	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.588G>C	9.37:g.8525016C>G	ENSP00000370593:p.Gln196His	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Missense_Mutation_p.Q196H|PTPRD_uc003zkq.2_Missense_Mutation_p.Q196H|PTPRD_uc003zkr.2_Missense_Mutation_p.Q190H|PTPRD_uc003zks.2_Missense_Mutation_p.Q190H|PTPRD_uc003zkl.2_Missense_Mutation_p.Q196H|PTPRD_uc003zkm.2_Missense_Mutation_p.Q187H|PTPRD_uc003zkn.2_Missense_Mutation_p.Q196H|PTPRD_uc003zko.2_Missense_Mutation_p.Q193H	p.Q196H	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	17	1299	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	196			Extracellular (Potential).|Ig-like C2-type 2.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.588G>C	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	10.09	1.254242	0.22965	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	D;D;T;T;D;T;T;T;D;D;T	0.95949	-3.86;-3.86;-0.64;-0.64;-3.86;-0.64;-0.64;-0.64;-3.86;-3.86;-0.64	5.79	5.79	0.91817	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.131336	0.52532	D	0.000069	D	0.89396	0.6703	N	0.12637	0.245	0.48288	D	0.99962	P;P;P;P;B;P;B;B;B	0.46578	0.536;0.536;0.88;0.707;0.256;0.48;0.0;0.28;0.008	B;B;B;B;B;B;B;B;B	0.41332	0.271;0.271;0.354;0.271;0.044;0.244;0.0;0.063;0.132	D	0.88530	0.3102	9	.	.	.	.	13.2593	0.60097	0.0:0.9274:0.0:0.0726	.	190;190;196;196;193;193;187;196;196	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	H	196;196;187;187;196;190;193;193;196;196;196;190	ENSP00000370593:Q196H;ENSP00000348812:Q196H;ENSP00000353187:Q187H;ENSP00000351293:Q187H;ENSP00000347373:Q196H;ENSP00000380741:Q190H;ENSP00000380735:Q193H;ENSP00000440515:Q193H;ENSP00000438164:Q196H;ENSP00000417093:Q196H;ENSP00000380731:Q190H	.	Q	-	3	2	PTPRD	8515016	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.201000	0.51059	2.721000	0.93114	0.655000	0.94253	CAG		0.433	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			41	115	0	0	0	0	41	115				
PSIP1	11168	broad.mit.edu	37	9	15472711	15472711	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr9:15472711C>G	ENST00000380733.4	-	10	1239	c.896G>C	c.(895-897)aGa>aCa	p.R299T	PSIP1_ENST00000380715.1_Missense_Mutation_p.R299T|PSIP1_ENST00000380716.4_Missense_Mutation_p.R299T|PSIP1_ENST00000397519.2_Missense_Mutation_p.R299T|PSIP1_ENST00000380738.4_Missense_Mutation_p.R299T			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	299					establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		CATATTCCTTCTGTGAGCAGT	0.373																																						uc003zlv.3		NA																	0				breast(1)	1						c.(895-897)AGA>ACA		PC4 and SFRS1 interacting protein 1 isoform 2							184.0	163.0	170.0					9																	15472711		2203	4300	6503	SO:0001583	missense	11168				initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity	g.chr9:15472711C>G	AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"""PC4 and SFRS1 interacting protein 2"""	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.896G>C	9.37:g.15472711C>G	ENSP00000370109:p.Arg299Thr					PSIP1_uc003zlw.3_Missense_Mutation_p.R299T|PSIP1_uc003zlz.3_Missense_Mutation_p.R299T|PSIP1_uc003zma.3_Missense_Mutation_p.R290T|PSIP1_uc003zly.2_Missense_Mutation_p.R299T	p.R299T	NM_033222	NP_150091	O75475	PSIP1_HUMAN		GBM - Glioblastoma multiforme(50;2.38e-06)	10	1226	-			299					D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	Missense_Mutation	SNP	ENST00000380733.4	37	c.896G>C	CCDS6479.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224729	0.79576	.	.	ENSG00000164985	ENST00000380733;ENST00000380738;ENST00000380715;ENST00000380716;ENST00000397519	T;T;T;T;T	0.50277	0.82;0.82;0.75;0.75;0.75	6.07	5.17	0.71159	.	0.149915	0.64402	D	0.000010	T	0.43831	0.1265	L	0.50333	1.59	0.33355	D	0.571524	P;P	0.40731	0.728;0.455	B;B	0.38954	0.286;0.149	T	0.62604	-0.6819	10	0.87932	D	0	.	13.1098	0.59267	0.0:0.9269:0.0:0.0731	.	299;299	O75475-2;O75475	.;PSIP1_HUMAN	T	299	ENSP00000370109:R299T;ENSP00000370114:R299T;ENSP00000370091:R299T;ENSP00000370092:R299T;ENSP00000380653:R299T	ENSP00000370091:R299T	R	-	2	0	PSIP1	15462711	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.477000	0.53151	2.890000	0.99128	0.585000	0.79938	AGA		0.373	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055445.1	NM_033222		37	51	0	0	0	0	37	51				
NOL8	55035	broad.mit.edu	37	9	95062242	95062242	+	Missense_Mutation	SNP	G	G	A	rs375437538		TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr9:95062242G>A	ENST00000535387.1	-	12	3117	c.3118C>T	c.(3118-3120)Cgt>Tgt	p.R1040C	NOL8_ENST00000442668.2_Missense_Mutation_p.R1078C|NOL8_ENST00000545558.1_Missense_Mutation_p.R1078C|NOL8_ENST00000358855.4_Missense_Mutation_p.R1010C|NOL8_ENST00000542053.1_Missense_Mutation_p.R1010C					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TCTTGTAAACGAGGGTCTTCC	0.413													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15136	0.0		0.0	False		,,,				2504	0.0					uc004arv.2		NA																	0				ovary(1)	1						c.(3232-3234)CGT>TGT		nucleolar protein 8		G	CYS/ARG	1,3713		0,1,1856	243.0	232.0	235.0		3232	3.1	0.7	9		235	0,8226		0,0,4113	no	missense	NOL8	NM_017948.5	180	0,1,5969	AA,AG,GG		0.0,0.0269,0.0084	probably-damaging	1078/1168	95062242	1,11939	1857	4113	5970	SO:0001583	missense	55035				DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding	g.chr9:95062242G>A	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.3118C>T	9.37:g.95062242G>A	ENSP00000441300:p.Arg1040Cys					NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Missense_Mutation_p.R310C|NOL8_uc011ltw.1_Missense_Mutation_p.R1010C	p.R1078C	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN			14	3569	-			1078						Missense_Mutation	SNP	ENST00000535387.1	37	c.3232C>T	CCDS47993.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.651319	0.47362	2.69E-4	0.0	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053	T;T;T;T;T	0.17213	2.29;2.31;2.29;2.58;2.31	5.94	3.13	0.36017	.	0.461361	0.26836	N	0.022252	T	0.09686	0.0238	L	0.42245	1.32	0.53688	D	0.999977	P;P	0.43909	0.609;0.821	B;B	0.26094	0.054;0.066	T	0.14727	-1.0462	10	0.87932	D	0	0.2755	4.6835	0.12747	0.1167:0.1245:0.6301:0.1287	.	1010;1078	Q76FK4-2;Q76FK4	.;NOL8_HUMAN	C	1078;1042;1010;1078;1040;1010	ENSP00000401177:R1078C;ENSP00000351723:R1010C;ENSP00000441140:R1078C;ENSP00000441300:R1040C;ENSP00000440709:R1010C	ENSP00000351723:R1010C	R	-	1	0	NOL8	94102063	1.000000	0.71417	0.715000	0.30552	0.990000	0.78478	3.752000	0.55172	0.420000	0.25954	0.650000	0.86243	CGT		0.413	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948		74	131	0	0	0	0	74	131				
GRIN3A	116443	broad.mit.edu	37	9	104375732	104375732	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr9:104375732C>A	ENST00000361820.3	-	6	3292	c.2692G>T	c.(2692-2694)Ggg>Tgg	p.G898W	GRIN3A_ENST00000479772.1_5'UTR	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	898					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	TCCATAAACCCATGTGACTTG	0.463																																						uc004bbp.1		NA																	0				ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(2692-2694)GGG>TGG		glutamate receptor, ionotropic,	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						198.0	155.0	170.0					9																	104375732		2203	4300	6503	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104375732C>A		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2692G>T	9.37:g.104375732C>A	ENSP00000355155:p.Gly898Trp					GRIN3A_uc004bbq.1_Missense_Mutation_p.G898W	p.G898W	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN			6	3293	-		Acute lymphoblastic leukemia(62;0.0568)	898			Extracellular (Potential).		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.2692G>T	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.639108	0.87760	.	.	ENSG00000198785	ENST00000361820	T	0.51071	0.72	5.09	5.09	0.68999	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.76442	0.3988	M	0.91561	3.22	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82497	-0.0428	10	0.87932	D	0	.	18.8385	0.92172	0.0:1.0:0.0:0.0	.	898	Q8TCU5	NMD3A_HUMAN	W	898	ENSP00000355155:G898W	ENSP00000355155:G898W	G	-	1	0	GRIN3A	103415553	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.736000	0.68597	2.526000	0.85167	0.655000	0.94253	GGG		0.463	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			22	8	1	0	2.28e-19	2.63e-19	22	8				
GRIN3A	116443	broad.mit.edu	37	9	104432608	104432608	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr9:104432608C>T	ENST00000361820.3	-	3	2686	c.2086G>A	c.(2086-2088)Gaa>Aaa	p.E696K		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	696					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CTCTTCCATTCATACAGAGTG	0.488																																						uc004bbp.1		NA																	0				ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(2086-2088)GAA>AAA		glutamate receptor, ionotropic,	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						116.0	123.0	121.0					9																	104432608		2203	4300	6503	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104432608C>T		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2086G>A	9.37:g.104432608C>T	ENSP00000355155:p.Glu696Lys					GRIN3A_uc004bbq.1_Missense_Mutation_p.E696K	p.E696K	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN			3	2687	-		Acute lymphoblastic leukemia(62;0.0568)	696			Cytoplasmic (Potential).		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.2086G>A	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.557502	0.86231	.	.	ENSG00000198785	ENST00000361820	T	0.50548	0.74	5.39	5.39	0.77823	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.75443	0.3850	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79978	-0.1575	10	0.87932	D	0	.	19.5908	0.95509	0.0:1.0:0.0:0.0	.	696	Q8TCU5	NMD3A_HUMAN	K	696	ENSP00000355155:E696K	ENSP00000355155:E696K	E	-	1	0	GRIN3A	103472429	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	7.773000	0.85462	2.714000	0.92807	0.580000	0.79431	GAA		0.488	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			29	77	0	0	0	0	29	77				
C9orf50	375759	broad.mit.edu	37	9	132375462	132375462	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr9:132375462G>A	ENST00000372478.4	-	6	1313	c.1112C>T	c.(1111-1113)tCa>tTa	p.S371L	NTMT1_ENST00000372486.1_Intron	NM_199350.3	NP_955382.3	Q5SZB4	CI050_HUMAN	chromosome 9 open reading frame 50	371										central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				CTTCTTCCATGAACAGAAGGG	0.607																																						uc004byc.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1111-1113)TCA>TTA		hypothetical protein LOC375759							40.0	40.0	40.0					9																	132375462		2203	4300	6503	SO:0001583	missense	375759							g.chr9:132375462G>A	AK093122	CCDS35159.1	9q34.2	2012-03-15			ENSG00000179058	ENSG00000179058			23677	protein-coding gene	gene with protein product							Standard	NM_199350		Approved	FLJ35803	uc004byc.4	Q5SZB4	OTTHUMG00000020786	ENST00000372478.4:c.1112C>T	9.37:g.132375462G>A	ENSP00000361556:p.Ser371Leu					C9orf50_uc004byb.3_RNA	p.S371L	NM_199350	NP_955382	Q5SZB4	CI050_HUMAN			6	1314	-		Ovarian(14;0.00556)	371					Q2M1I2|Q8NA65	Missense_Mutation	SNP	ENST00000372478.4	37	c.1112C>T	CCDS35159.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.435051	0.43224	.	.	ENSG00000179058	ENST00000372478	T	0.25250	1.81	3.46	1.55	0.23275	.	1.009830	0.07990	U	0.986995	T	0.20007	0.0481	N	0.24115	0.695	0.09310	N	1	P	0.45827	0.867	P	0.44477	0.451	T	0.19063	-1.0317	10	0.66056	D	0.02	-0.9548	6.2474	0.20827	0.0:0.2039:0.5858:0.2103	.	371	Q5SZB4	CI050_HUMAN	L	371	ENSP00000361556:S371L	ENSP00000361556:S371L	S	-	2	0	C9orf50	131415283	0.002000	0.14202	0.013000	0.15412	0.001000	0.01503	0.439000	0.21575	0.433000	0.26313	0.442000	0.29010	TCA		0.607	C9orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054593.1	NM_199350		11	33	0	0	0	0	11	33				
COL5A1	1289	broad.mit.edu	37	9	137715309	137715309	+	Silent	SNP	C	C	A	rs61735501	byFrequency	TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr9:137715309C>A	ENST00000371817.3	+	61	5106	c.4692C>A	c.(4690-4692)ggC>ggA	p.G1564G		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1564	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GACCCCCAGGCCCCCCGGTAA	0.597													C|||	3	0.000599042	0.0008	0.0014	5008	,	,		18141	0.0		0.0	False		,,,				2504	0.001					uc004cfe.2		NA																	0				skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(4690-4692)GGC>GGA		alpha 1 type V collagen preproprotein							68.0	84.0	78.0					9																	137715309		2203	4300	6503	SO:0001819	synonymous_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137715309C>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.4692C>A	9.37:g.137715309C>A						uc004cff.2_Intron	p.G1564G	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	61	5074	+		Myeloproliferative disorder(178;0.0341)	1564			Triple-helical region.		Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	c.4692C>A	CCDS6982.1																																																																																				0.597	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		26	50	1	0	1.74e-06	1.9e-06	26	50				
GLT6D1	360203	broad.mit.edu	37	9	138531020	138531020	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr9:138531020C>G	ENST00000371763.1	-	2	267	c.14G>C	c.(13-15)aGa>aCa	p.R5T		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	5					carbohydrate metabolic process (GO:0005975)	integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		TAACAGCATTCTTTTAGAATT	0.289																																						uc010nbd.1		NA																	0				ovary(1)	1						c.(13-15)AGA>ACA		glycosyltransferase 6 domain containing 1							49.0	48.0	48.0					9																	138531020		1814	4066	5880	SO:0001583	missense	360203				carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups	g.chr9:138531020C>G	AY336054	CCDS43900.1	9q34.3	2013-02-22	2004-09-16	2004-09-17	ENSG00000204007	ENSG00000204007		"""Glycosyltransferase family 6 domain containing"""	23671	protein-coding gene	gene with protein product		613699	"""galactosyltransferase family 6 domain containing 1"""	GLTDC1			Standard	NM_182974		Approved		uc010nbd.1	Q7Z4J2	OTTHUMG00000020911	ENST00000371763.1:c.14G>C	9.37:g.138531020C>G	ENSP00000360829:p.Arg5Thr						p.R5T	NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)	2	268	-		Myeloproliferative disorder(178;0.0821)	5			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000371763.1	37	c.14G>C	CCDS43900.1	.	.	.	.	.	.	.	.	.	.	-	12.08	1.831918	0.32421	.	.	ENSG00000204007	ENST00000371763	T	0.01947	4.54	3.42	0.693	0.18056	.	1.811830	0.03700	N	0.248493	T	0.02610	0.0079	L	0.43152	1.355	0.09310	N	1	B	0.33694	0.421	B	0.26864	0.074	T	0.43212	-0.9405	10	0.52906	T	0.07	-5.5349	4.9496	0.14008	0.0:0.4153:0.0:0.5847	.	5	Q7Z4J2	GL6D1_HUMAN	T	5	ENSP00000360829:R5T	ENSP00000360829:R5T	R	-	2	0	GLT6D1	137670841	0.000000	0.05858	0.003000	0.11579	0.062000	0.15995	-0.587000	0.05780	0.133000	0.18654	-0.496000	0.04628	AGA		0.289	GLT6D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055005.2	NM_182974		13	32	0	0	0	0	13	32				
PRDX4	10549	broad.mit.edu	37	X	23700512	23700512	+	Splice_Site	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chrX:23700512G>A	ENST00000379341.4	+	5	724		c.e5-1			NM_006406.1	NP_006397.1	Q13162	PRDX4_HUMAN	peroxiredoxin 4						4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|I-kappaB phosphorylation (GO:0007252)|male gonad development (GO:0008584)|negative regulation of male germ cell proliferation (GO:2000255)|protein maturation by protein folding (GO:0022417)|reactive oxygen species metabolic process (GO:0072593)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	thioredoxin peroxidase activity (GO:0008379)			lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						CTGTTTTACAGAGGTCTCTTC	0.368																																						uc004dam.2		NA																	0				upper_aerodigestive_tract(1)	1						c.e5-1		peroxiredoxin 4							86.0	80.0	82.0					X																	23700512		2203	4300	6503	SO:0001630	splice_region_variant	10549				cell redox homeostasis|I-kappaB phosphorylation		thioredoxin peroxidase activity	g.chrX:23700512G>A	U25182	CCDS14206.1	Xp22.11	2012-09-20			ENSG00000123131	ENSG00000123131			17169	protein-coding gene	gene with protein product		300927				9388242	Standard	XM_005274438		Approved	AOE37-2	uc004dam.3	Q13162	OTTHUMG00000021253	ENST00000379341.4:c.600-1G>A	X.37:g.23700512G>A							p.R200_splice	NM_006406	NP_006397	Q13162	PRDX4_HUMAN			5	643	+								Q6FHT3	Splice_Site	SNP	ENST00000379341.4	37	c.600_splice	CCDS14206.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.324074	0.81580	.	.	ENSG00000123131	ENST00000379341;ENST00000439422	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1271	0.93390	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRDX4	23610433	1.000000	0.71417	0.998000	0.56505	0.878000	0.50629	9.869000	0.99810	2.467000	0.83353	0.594000	0.82650	.		0.368	PRDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056049.1	NM_006406	Intron	16	25	0	0	0	0	16	25				
RPGR	6103	broad.mit.edu	37	X	38145068	38145068	+	Intron	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chrX:38145068C>G	ENST00000339363.3	-	14	2688				TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000338898.3_Intron|RPGR_ENST00000378505.2_Missense_Mutation_p.E1062Q|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000318842.7_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						tcttcctcctcctcttctctg	0.488																																						uc004ded.1		NA																	0				ovary(1)	1						c.(3184-3186)GAG>CAG		retinitis pigmentosa GTPase regulator isoform C							286.0	217.0	240.0					X																	38145068		2202	4299	6501	SO:0001627	intron_variant	6103				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	g.chrX:38145068C>G	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2520+1278G>C	X.37:g.38145068C>G						RPGR_uc004deb.2_Intron|RPGR_uc004dea.2_Intron|RPGR_uc004dec.2_Intron	p.E1062Q	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN			15	3352	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	ENST00000339363.3	37	c.3184G>C		.	.	.	.	.	.	.	.	.	.	c	3.789	-0.043991	0.07452	.	.	ENSG00000156313	ENST00000378505	T	0.02323	4.34	2.38	-1.74	0.08056	.	1.372170	0.06963	U	0.816747	T	0.02267	0.0070	L	0.34521	1.04	0.09310	N	1	B	0.32893	0.389	B	0.21708	0.036	T	0.42649	-0.9439	10	0.87932	D	0	.	4.3986	0.11376	0.0:0.4667:0.1664:0.367	.	1062	E9PE28	.	Q	1062	ENSP00000367766:E1062Q	ENSP00000367766:E1062Q	E	-	1	0	RPGR	38030012	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-0.151000	0.10175	-0.684000	0.05183	0.339000	0.21740	GAG		0.488	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328		39	31	0	0	0	0	39	31				
HUWE1	10075	broad.mit.edu	37	X	53631658	53631658	+	Silent	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chrX:53631658G>A	ENST00000342160.3	-	25	3091	c.2634C>T	c.(2632-2634)ggC>ggT	p.G878G	HUWE1_ENST00000218328.8_Silent_p.G878G|HUWE1_ENST00000262854.6_Silent_p.G878G			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	878					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						CAGCAACATTGCCTGCGCAAG	0.562																																						uc004dsp.2		NA																	0				ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(2632-2634)GGC>GGT		HECT, UBA and WWE domain containing 1							84.0	64.0	71.0					X																	53631658		2203	4300	6503	SO:0001819	synonymous_variant	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:53631658G>A	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.2634C>T	X.37:g.53631658G>A							p.G878G	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			26	3036	-			878					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	37	c.2634C>T	CCDS35301.1																																																																																				0.562	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		8	17	0	0	0	0	8	17				
LCE4A	199834	broad.mit.edu	37	1	152681693	152681698	+	In_Frame_Del	DEL	TGTGGT	TGTGGT	-	rs74871420|rs113617356|rs79268808		TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:152681693_152681698delTGTGGT	ENST00000368777.1	+	2	398_403	c.142_147delTGTGGT	c.(142-147)tgtggtdel	p.CG48del	LCE4A_ENST00000335535.3_In_Frame_Del_p.CG48del			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	48	Cys-rich.				keratinization (GO:0031424)					endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			CTCTGGGGGCTGTGGTTGCTGCAGCT	0.578																																						uc001fak.2		NA																	0					0						c.(142-147)TGTGGTdel		late cornified envelope 4A																																				SO:0001651	inframe_deletion	199834				keratinization			g.chr1:152681693_152681698delTGTGGT	BI670517	CCDS1022.1	1q22	2008-02-05	2004-10-11	2004-10-15	ENSG00000187170	ENSG00000187170		"""Late cornified envelopes"""	16613	protein-coding gene	gene with protein product		612618	"""small proline rich-like (epidermal differentiation complex) 4A"""	SPRL4A		11698679	Standard	NM_178356		Approved	LEP8	uc001fak.2	Q5TA78	OTTHUMG00000014394	ENST00000368777.1:c.142_147delTGTGGT	1.37:g.152681693_152681698delTGTGGT	ENSP00000357766:p.Cys48_Gly49del						p.CG48del	NM_178356	NP_848133	Q5TA78	LCE4A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.116)		1	171_176	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		48_49			Cys-rich.		Q14D97	In_Frame_Del	DEL	ENST00000368777.1	37	c.142_147delTGTGGT	CCDS1022.1																																																																																				0.578	LCE4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040048.1	NM_178356		7	203	NA	NA	NA	NA	7	203	---	---	---	---
TMEM81	388730	broad.mit.edu	37	1	205052694	205052694	+	Frame_Shift_Del	DEL	C	C	-	rs562433962	byFrequency	TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:205052694delC	ENST00000367167.3	-	1	951	c.755delG	c.(754-756)ggcfs	p.G252fs		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	252						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CTGCTGCAGGCCCCCCCTTAG	0.537																																						uc001hbt.2		NA																	0					0						c.(754-756)GGCfs		transmembrane protein 81 precursor							88.0	82.0	84.0					1																	205052694		2203	4300	6503	SO:0001589	frameshift_variant	388730					integral to membrane		g.chr1:205052694delC	BC061592	CCDS1450.1	1q32.1	2013-01-11			ENSG00000174529	ENSG00000174529		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32349	protein-coding gene	gene with protein product							Standard	NM_203376		Approved	UNQ2788, MGC75217, HC3107, KVLA2788	uc001hbt.3	Q6P7N7	OTTHUMG00000037103	ENST00000367167.3:c.755delG	1.37:g.205052694delC	ENSP00000356135:p.Gly252fs						p.G252fs	NM_203376	NP_976310	Q6P7N7	TMM81_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0923)		1	895	-	all_cancers(21;0.144)|Breast(84;0.0437)		252			Cytoplasmic (Potential).		Q6UVZ4	Frame_Shift_Del	DEL	ENST00000367167.3	37	c.755delG	CCDS1450.1																																																																																				0.537	TMEM81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090076.1	NM_203376		7	181	NA	NA	NA	NA	7	181	---	---	---	---
PTPN14	5784	broad.mit.edu	37	1	214557049	214557051	+	In_Frame_Del	DEL	CCT	CCT	-	rs143136196|rs376331360|rs189081489|rs539310988	byFrequency	TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:214557049_214557051delCCT	ENST00000366956.5	-	13	2341_2343	c.2147_2149delAGG	c.(2146-2151)gaggct>gct	p.E716del	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	716	Poly-Glu.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)	p.E716delE(1)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GATTCTGGAGCCTCCTCCTCCTC	0.626																																					Colon(92;557 1424 24372 34121 40073)	uc001hkk.1		NA																	1	Deletion - In frame(1)		liver(1)	breast(2)|ovary(1)|kidney(1)|skin(1)	5						c.(2146-2151)GAGGCT>GCT		protein tyrosine phosphatase, non-receptor type																																				SO:0001651	inframe_deletion	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214557049_214557051delCCT	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.2147_2149delAGG	1.37:g.214557058_214557060delCCT	ENSP00000355923:p.Glu716del					PTPN14_uc010pty.1_In_Frame_Del_p.E617del	p.E716del	NM_005401	NP_005392	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	13	2418_2420	-			716			Poly-Glu.		Q5VSI0	In_Frame_Del	DEL	ENST00000366956.5	37	c.2147_2149delAGG	CCDS1514.1																																																																																				0.626	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		10	189	NA	NA	NA	NA	10	189	---	---	---	---
DUSP5	1847	broad.mit.edu	37	10	112266854	112266854	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr10:112266854delG	ENST00000369583.3	+	3	974	c.690delG	c.(688-690)gtgfs	p.V230fs	DUSP5_ENST00000468749.1_3'UTR	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	230	Tyrosine-protein phosphatase.				endoderm formation (GO:0001706)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		GGATCCCTGTGGAAGACAGCC	0.542																																						uc001kzd.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(688-690)GTGfs		dual specificity phosphatase 5							140.0	142.0	141.0					10																	112266854		2203	4300	6503	SO:0001589	frameshift_variant	1847				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr10:112266854delG	U16996	CCDS7566.1	10q25	2011-06-09			ENSG00000138166	ENSG00000138166		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3071	protein-coding gene	gene with protein product		603069				7806236	Standard	NM_004419		Approved	HVH3	uc001kzd.3	Q16690	OTTHUMG00000019040	ENST00000369583.3:c.690delG	10.37:g.112266854delG	ENSP00000358596:p.Val230fs						p.V230fs	NM_004419	NP_004410	Q16690	DUS5_HUMAN		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)	3	945	+		Breast(234;0.0848)	230			Tyrosine-protein phosphatase.		Q12997|Q5T603	Frame_Shift_Del	DEL	ENST00000369583.3	37	c.690delG	CCDS7566.1																																																																																				0.542	DUSP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050333.1	NM_004419		82	102	NA	NA	NA	NA	82	102	---	---	---	---
CWF19L2	143884	broad.mit.edu	37	11	107207441	107207442	+	Splice_Site	INS	-	-	A	rs540909186		TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr11:107207441_107207442insA	ENST00000282251.5	-	15	2230		c.e15-2			NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)								catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TCTGAACATCTAAAAAAAAAAA	0.257																																						uc010rvp.1		NA																	0					0						c.e15-1		CWF19-like 2, cell cycle control																																				SO:0001630	splice_region_variant	143884						catalytic activity	g.chr11:107207441_107207442insA	AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.2203-2->T	11.37:g.107207452_107207452dupA						CWF19L2_uc001pjh.3_Splice_Site|CWF19L2_uc009yxo.2_Splice_Site	p.M735_splice	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)	15	2233	-		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)						A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Splice_Site	INS	ENST00000282251.5	37	c.2203_splice	CCDS8336.2																																																																																				0.257	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434	Intron	2	4	NA	NA	NA	NA	2	4	---	---	---	---
SI	6476	broad.mit.edu	37	3	164733816	164733817	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr3:164733816_164733817insT	ENST00000264382.3	-	32	3873_3874	c.3811_3812insA	c.(3811-3813)attfs	p.I1271fs		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1271	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TGCTTCACCAATTGTAAAGTCT	0.366										HNSCC(35;0.089)																												uc003fei.2		NA																	0				ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(3811-3813)ATTfs		sucrase-isomaltase	Acarbose(DB00284)																																			SO:0001589	frameshift_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164733816_164733817insT	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3812dupA	3.37:g.164733818_164733818dupT	ENSP00000264382:p.Ile1271fs	HNSCC(35;0.089)					p.I1271fs	NM_001041	NP_001032	P14410	SUIS_HUMAN			32	3873_3874	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1271			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Frame_Shift_Ins	INS	ENST00000264382.3	37	c.3811_3812insA	CCDS3196.1																																																																																				0.366	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		162	289	NA	NA	NA	NA	162	289	---	---	---	---
NCOA7	135112	broad.mit.edu	37	6	126210254	126210258	+	Frame_Shift_Del	DEL	GAGAA	GAGAA	-			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr6:126210254_126210258delGAGAA	ENST00000368357.3	+	10	1406_1410	c.1054_1058delGAGAA	c.(1054-1059)gagaagfs	p.EK352fs	NCOA7_ENST00000392477.2_Frame_Shift_Del_p.EK352fs|NCOA7_ENST00000229634.9_Frame_Shift_Del_p.EK237fs	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	352					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		AGTACCTTTGGAGAAGTCCACAGGA	0.434																																						uc010kes.2		NA																	0				lung(2)|ovary(1)	3						c.(1054-1059)GAGAAGfs		nuclear receptor coactivator 7 isoform 1																																				SO:0001589	frameshift_variant	135112				cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:126210254_126210258delGAGAA	AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 4"""	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.1054_1058delGAGAA	6.37:g.126210254_126210258delGAGAA	ENSP00000357341:p.Glu352fs					NCOA7_uc003qae.3_Frame_Shift_Del_p.E352fs|NCOA7_uc003qah.2_Frame_Shift_Del_p.E341fs|NCOA7_uc003qai.2_Frame_Shift_Del_p.E352fs|NCOA7_uc010ket.2_Frame_Shift_Del_p.E237fs	p.E352fs	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)	11	1503_1507	+			352_353					B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Frame_Shift_Del	DEL	ENST00000368357.3	37	c.1054_1058delGAGAA	CCDS5132.1																																																																																				0.434	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042083.4	XM_059748		41	78	NA	NA	NA	NA	41	78	---	---	---	---
ZNF41	7592	broad.mit.edu	37	X	47306830	47306831	+	Stop_Codon_Del	DEL	CA	CA	-			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chrX:47306830_47306831delCA	ENST00000377065.4	-	0	2977_2978				ZNF41_ENST00000397050.2_Stop_Codon_Del|ZNF41_ENST00000313116.7_Stop_Codon_Del|ZNF41_ENST00000465311.1_5'Flank	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				AAGACTTTCTCAGTCACTGGCT	0.431																																						uc004dhs.3		NA																	0				ovary(3)	3						c.(2464-2466)TGAfs		zinc finger protein 41																																				SO:0001567	stop_retained_variant	7592					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47306830_47306831delCA	X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"""Zinc fingers, C2H2-type"", ""-"""	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	Exception_encountered	X.37:g.47306830_47306831delCA	Exception_encountered					ZNF41_uc004dhu.3_Frame_Shift_Del_p.*814fs|ZNF41_uc004dht.3_Frame_Shift_Del_p.*694fs|ZNF41_uc004dhv.3_Frame_Shift_Del_p.*790fs|ZNF41_uc004dhw.3_Frame_Shift_Del_p.*782fs|ZNF41_uc004dhy.3_Frame_Shift_Del_p.*780fs|ZNF41_uc004dhx.3_Frame_Shift_Del_p.*780fs|ZNF41_uc011mlm.1_Frame_Shift_Del_p.*694fs	p.*822fs	NM_153380	NP_700359	P51814	ZNF41_HUMAN			4	2531_2532	-		all_lung(315;0.000129)	822					A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Frame_Shift_Del	DEL	ENST00000377065.4	37	c.2464_2465delTG	CCDS14279.1																																																																																				0.431	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	NM_153380		70	16	NA	NA	NA	NA	70	16	---	---	---	---
