#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
RER1	11079	broad.mit.edu	37	1	2330854	2330854	+	Splice_Site	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:2330854G>A	ENST00000605895.1	+	4	320	c.187G>A	c.(187-189)Ggt>Agt	p.G63S	RER1_ENST00000378518.1_Intron|RER1_ENST00000378512.1_Splice_Site_p.G63S|RER1_ENST00000378513.3_Intron|RER1_ENST00000488353.1_Splice_Site_p.G63S	NM_007033.4	NP_008964.3	O15258	RER1_HUMAN	retention in endoplasmic reticulum sorting receptor 1	63					positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)	cell surface (GO:0009986)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of Golgi membrane (GO:0030173)				endometrium(3)|kidney(1)	4	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)		TCTCTTTCAGGGTTGGTACAT	0.463																																						uc001aje.1		NA																	0					0						c.(187-189)GGT>AGT		RER1 retention in endoplasmic reticulum 1							136.0	146.0	143.0					1																	2330854		2107	4242	6349	SO:0001630	splice_region_variant	11079				retrograde vesicle-mediated transport, Golgi to ER	integral to Golgi membrane		g.chr1:2330854G>A	AF157324	CCDS41232.1	1p36	2013-10-18	2013-10-18		ENSG00000157916	ENSG00000157916			30309	protein-coding gene	gene with protein product			"""RER1 retention in endoplasmic reticulum 1 homolog (S. cerevisiae)"""			9309388, 17668005	Standard	NM_007033		Approved		uc001aje.2	O15258	OTTHUMG00000001403	ENST00000605895.1:c.187-1G>A	1.37:g.2330854G>A						RER1_uc001ajf.1_Missense_Mutation_p.G63S	p.G63S	NM_007033	NP_008964	O15258	RER1_HUMAN		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)	4	378	+	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	63			Helical; (Potential).		O95322	Missense_Mutation	SNP	ENST00000605895.1	37	c.187G>A	CCDS41232.1	.	.	.	.	.	.	.	.	.	.	g	21.3	4.121387	0.77436	.	.	ENSG00000157916	ENST00000306256;ENST00000434662;ENST00000378512;ENST00000443438	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.85044	0.5607	M	0.88842	2.985	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87143	0.2204	8	.	.	.	.	18.2556	0.90019	0.0:0.0:1.0:0.0	.	63;63	Q5T091;O15258	.;RER1_HUMAN	S	63	.	.	G	+	1	0	RER1	2320714	1.000000	0.71417	0.998000	0.56505	0.678000	0.39670	8.836000	0.92105	2.549000	0.85964	0.586000	0.80456	GGT		0.463	RER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004061.2		Missense_Mutation	9	93	0	0	0	0	9	93				
RSRP1	57035	broad.mit.edu	37	1	25573139	25573139	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:25573139G>A	ENST00000243189.7	-	2	592	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W	RP3-465N24.6_ENST00000607698.1_lincRNA|C1orf63_ENST00000417642.2_Missense_Mutation_p.R99W|C1orf63_ENST00000431849.2_Missense_Mutation_p.R106W	NM_020317.3	NP_064713.3	Q9BUV0	RSRP1_HUMAN		106	Arg/Ser-rich.									breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GAAGGAGACCGGTAGTATCTC	0.672																																						uc001bjw.2		NA																	0				pancreas(1)	1						c.(316-318)CGG>TGG		hypothetical protein LOC57035							43.0	39.0	40.0					1																	25573139		2203	4300	6503	SO:0001583	missense	57035							g.chr1:25573139G>A																												ENST00000243189.7:c.316C>T	1.37:g.25573139G>A	ENSP00000243189:p.Arg106Trp						p.R106W	NM_020317	NP_064713	Q9BUV0	CA063_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	2	568	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	106			Arg-rich.		A8K917|Q49AA4|Q5TH71|Q9GZP6	Missense_Mutation	SNP	ENST00000243189.7	37	c.316C>T	CCDS260.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.149922	0.57151	.	.	ENSG00000117616	ENST00000243189;ENST00000417642;ENST00000431849	T;T;T	0.52057	1.27;1.3;0.68	3.61	-1.01	0.10169	.	0.719396	0.11432	N	0.564721	T	0.34454	0.0898	L	0.47716	1.5	0.09310	N	1	B	0.20887	0.049	B	0.12156	0.007	T	0.31110	-0.9955	10	0.66056	D	0.02	0.1039	3.6627	0.08245	0.0913:0.3056:0.4459:0.1572	.	106	Q9BUV0	CA063_HUMAN	W	106;99;106	ENSP00000243189:R106W;ENSP00000411631:R99W;ENSP00000391510:R106W	ENSP00000243189:R106W	R	-	1	2	C1orf63	25445726	0.006000	0.16342	0.000000	0.03702	0.207000	0.24258	1.602000	0.36783	-0.303000	0.08856	-0.215000	0.12644	CGG		0.672	C1orf63-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101966.2			8	67	0	0	0	0	8	67				
TMEM57	55219	broad.mit.edu	37	1	25810763	25810763	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:25810763C>A	ENST00000374343.4	+	7	1490	c.1311C>A	c.(1309-1311)aaC>aaA	p.N437K	TMEM57_ENST00000399766.3_Missense_Mutation_p.N210K|TMEM57_ENST00000399763.3_Missense_Mutation_p.N79K	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	437					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTGCAGAACAAGTACGTGC	0.572																																						uc001bkk.2		NA																	0					0						c.(1309-1311)AAC>AAA		transmembrane protein 57							50.0	48.0	49.0					1																	25810763		2203	4300	6503	SO:0001583	missense	55219					axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part		g.chr1:25810763C>A	AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.1311C>A	1.37:g.25810763C>A	ENSP00000363463:p.Asn437Lys					TMEM57_uc009vru.2_Missense_Mutation_p.N210K|TMEM57_uc009vrv.2_Missense_Mutation_p.N79K	p.N437K	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)	7	1513	+		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)	437					B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Missense_Mutation	SNP	ENST00000374343.4	37	c.1311C>A	CCDS30638.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804198	0.70682	.	.	ENSG00000204178	ENST00000399766;ENST00000399763;ENST00000374343	T;D;T	0.82526	2.67;-1.62;2.6	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.83538	0.5276	L	0.45698	1.435	0.80722	D	1	D;D;D	0.62365	0.975;0.991;0.98	P;P;P	0.57846	0.736;0.721;0.828	T	0.77920	-0.2407	10	0.08381	T	0.77	-22.1464	12.8172	0.57671	0.0:0.9262:0.0:0.0737	.	79;210;437	Q8N5G2-2;Q8N5G2-3;Q8N5G2	.;.;MACOI_HUMAN	K	210;79;437	ENSP00000382668:N210K;ENSP00000382666:N79K;ENSP00000363463:N437K	ENSP00000363463:N437K	N	+	3	2	TMEM57	25683350	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	3.045000	0.49838	2.868000	0.98415	0.557000	0.71058	AAC		0.572	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009659.2	NM_018202		17	51	1	0	2.49e-13	3.08e-13	17	51				
ZNHIT6	54680	broad.mit.edu	37	1	86146537	86146537	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:86146537G>T	ENST00000370574.3	-	6	1203	c.1070C>A	c.(1069-1071)gCt>gAt	p.A357D	ZNHIT6_ENST00000431532.2_Missense_Mutation_p.A318D			Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	357					box C/D snoRNP assembly (GO:0000492)|ribosome biogenesis (GO:0042254)	extracellular vesicular exosome (GO:0070062)|pre-snoRNP complex (GO:0070761)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						TATGTACTCAGCTTGACTTTG	0.318																																						uc001dlh.2		NA																	0				large_intestine(1)	1						c.(1069-1071)GCT>GAT		zinc finger, HIT type 6							95.0	94.0	94.0					1																	86146537		2203	4297	6500	SO:0001583	missense	54680				box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding	g.chr1:86146537G>T	AL442074	CCDS707.1, CCDS53338.1	1p22.3	2013-01-17	2010-09-15	2008-06-23	ENSG00000117174	ENSG00000117174		"""Zinc fingers, HIT-type"""	26089	protein-coding gene	gene with protein product	"""box C/D snoRNA essential 1 homolog (S. cerevisiae)"""		"""chromosome 1 open reading frame 181"", ""zinc finger, HIT type 6"""	C1orf181		12747765	Standard	NM_017953		Approved	FLJ20729, NY-BR-75, BCD1	uc001dlh.3	Q9NWK9	OTTHUMG00000010576	ENST00000370574.3:c.1070C>A	1.37:g.86146537G>T	ENSP00000359606:p.Ala357Asp					ZNHIT6_uc010osc.1_Missense_Mutation_p.A318D	p.A357D	NM_017953	NP_060423	Q9NWK9	BCD1_HUMAN			6	1204	-			357					B2RBA1|B4DP13|D3DT20|Q9H278|Q9H3X3|Q9NWN0	Missense_Mutation	SNP	ENST00000370574.3	37	c.1070C>A	CCDS707.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.255675	0.59321	.	.	ENSG00000117174	ENST00000431532;ENST00000370574	T;T	0.50277	0.8;0.75	5.49	5.49	0.81192	.	0.119181	0.56097	D	0.000027	T	0.58018	0.2093	L	0.56769	1.78	0.54753	D	0.999986	B;D	0.76494	0.342;0.999	B;D	0.68765	0.132;0.96	T	0.55159	-0.8184	10	0.42905	T	0.14	-4.1759	18.1531	0.89682	0.0:0.0:1.0:0.0	.	318;357	B4DP13;Q9NWK9	.;BCD1_HUMAN	D	318;357	ENSP00000414344:A318D;ENSP00000359606:A357D	ENSP00000359606:A357D	A	-	2	0	ZNHIT6	85919125	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	6.242000	0.72376	2.577000	0.86979	0.655000	0.94253	GCT		0.318	ZNHIT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029186.1	NM_017953		5	19	1	0	0.00116845	0.00127074	5	19				
COL11A1	1301	broad.mit.edu	37	1	103364525	103364525	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:103364525T>C	ENST00000370096.3	-	55	4424	c.4112A>G	c.(4111-4113)gAg>gGg	p.E1371G	COL11A1_ENST00000353414.4_Missense_Mutation_p.E1332G|COL11A1_ENST00000358392.2_Missense_Mutation_p.E1383G|COL11A1_ENST00000512756.1_Missense_Mutation_p.E1255G	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1371	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTGTCTTCCCTCTGCACCTGC	0.274																																						uc001dul.2		NA																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(4111-4113)GAG>GGG		alpha 1 type XI collagen isoform A							43.0	43.0	43.0					1																	103364525		2201	4298	6499	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103364525T>C	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4112A>G	1.37:g.103364525T>C	ENSP00000359114:p.Glu1371Gly					COL11A1_uc001duk.2_Missense_Mutation_p.E567G|COL11A1_uc001dum.2_Missense_Mutation_p.E1383G|COL11A1_uc001dun.2_Missense_Mutation_p.E1332G|COL11A1_uc009weh.2_Missense_Mutation_p.E1255G	p.E1371G	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	55	4430	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1371			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.4112A>G	CCDS778.1	.	.	.	.	.	.	.	.	.	.	T	17.17	3.321194	0.60634	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.94497	-3.44;-3.44;-3.44;-3.44	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.93776	0.8010	L	0.34521	1.04	0.58432	D	0.999999	P;P;P;P;P	0.47484	0.896;0.873;0.798;0.799;0.493	P;B;P;B;B	0.58820	0.519;0.385;0.846;0.214;0.178	D	0.95150	0.8272	10	0.87932	D	0	.	15.8056	0.78506	0.0:0.0:0.0:1.0	.	1255;1332;1383;1371;591	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	G	1371;1383;1332;591;1255	ENSP00000359114:E1371G;ENSP00000351163:E1383G;ENSP00000302551:E1332G;ENSP00000426533:E1255G	ENSP00000302551:E1332G	E	-	2	0	COL11A1	103137113	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	4.819000	0.62664	2.323000	0.78572	0.528000	0.53228	GAG		0.274	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		7	10	0	0	0	0	7	10				
BCL9	607	broad.mit.edu	37	1	147091476	147091476	+	Silent	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:147091476C>T	ENST00000234739.3	+	8	2255	c.1515C>T	c.(1513-1515)caC>caT	p.H505H		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	505	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TCCATCAGCACGGGCCTCGGG	0.567			T	"""IGH@, IGL@"""	B-ALL																																	uc001epq.2		NA		Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	IGH@|IGL@		B-ALL		0				ovary(2)|large_intestine(2)|breast(1)|skin(1)	6						c.(1513-1515)CAC>CAT		B-cell CLL/lymphoma 9							69.0	78.0	75.0					1																	147091476		2203	4300	6503	SO:0001819	synonymous_variant	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147091476C>T	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.1515C>T	1.37:g.147091476C>T						BCL9_uc010ozr.1_Silent_p.H431H	p.H505H	NM_004326	NP_004317	O00512	BCL9_HUMAN			8	2255	+	all_hematologic(923;0.115)		505			Pro-rich.		Q5T489	Silent	SNP	ENST00000234739.3	37	c.1515C>T	CCDS30833.1																																																																																				0.567	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		41	100	0	0	0	0	41	100				
KPRP	448834	broad.mit.edu	37	1	152732519	152732519	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:152732519A>T	ENST00000606109.1	+	1	483	c.455A>T	c.(454-456)aAc>aTc	p.N152I	KPRP_ENST00000368773.1_Missense_Mutation_p.N152I			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	152	Gln-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGTCCAGAACTATGTACCC	0.502																																						uc001fal.1		NA																	0				ovary(4)|pancreas(1)	5						c.(454-456)AAC>ATC		keratinocyte proline-rich protein							124.0	125.0	124.0					1																	152732519		2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152732519A>T	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.455A>T	1.37:g.152732519A>T	ENSP00000475216:p.Asn152Ile						p.N152I	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	513	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		152			Gln-rich.			Missense_Mutation	SNP	ENST00000606109.1	37	c.455A>T	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	A	8.629	0.893298	0.17613	.	.	ENSG00000203786	ENST00000368773	T	0.12361	2.69	5.63	0.296	0.15757	.	0.409334	0.21090	N	0.080329	T	0.02649	0.0080	L	0.29908	0.895	0.19300	N	0.999975	B	0.11235	0.004	B	0.11329	0.006	T	0.39961	-0.9588	10	0.66056	D	0.02	-2.6889	4.412	0.11438	0.401:0.3999:0.1255:0.0736	.	152	Q5T749	KPRP_HUMAN	I	152	ENSP00000357762:N152I	ENSP00000357762:N152I	N	+	2	0	KPRP	150999143	0.536000	0.26378	0.214000	0.23707	0.186000	0.23388	0.016000	0.13377	-0.097000	0.12307	-0.887000	0.02937	AAC		0.502	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		48	107	0	0	0	0	48	107				
SLC27A3	11000	broad.mit.edu	37	1	153745728	153745728	+	5'Flank	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:153745728G>A	ENST00000368661.3	+	0	0				INTS3_ENST00000318967.2_Silent_p.V1037V|INTS3_ENST00000435409.2_Silent_p.V1037V|SLC27A3_ENST00000271857.2_5'Flank|INTS3_ENST00000512605.1_Silent_p.V897V|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000456435.1_Silent_p.V897V	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3						fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCTCTGCAGTGGGCTCTGACA	0.552																																						uc009wom.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(3109-3111)GTG>GTA		integrator complex subunit 3							166.0	167.0	167.0					1																	153745728		2203	4300	6503	SO:0001631	upstream_gene_variant	65123				DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding	g.chr1:153745728G>A	BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155		1.37:g.153745728G>A	Exception_encountered					INTS3_uc001fct.2_Silent_p.V1037V|INTS3_uc001fcu.2_Silent_p.V729V|INTS3_uc001fcv.2_Silent_p.V831V|INTS3_uc010peb.1_Silent_p.V897V|INTS3_uc001fcw.2_Silent_p.V550V|INTS3_uc010pec.1_Silent_p.V550V|INTS3_uc001fcy.2_Silent_p.V400V|INTS3_uc001fcx.2_Silent_p.V334V	p.V1037V	NM_023015	NP_075391	Q68E01	INT3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		31	3332	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		1038					Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Silent	SNP	ENST00000368661.3	37	c.3111G>A	CCDS1053.1																																																																																				0.552	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_024330		42	74	0	0	0	0	42	74				
ATP8B2	57198	broad.mit.edu	37	1	154316484	154316484	+	Missense_Mutation	SNP	G	G	T	rs373295550		TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:154316484G>T	ENST00000368489.3	+	18	1973	c.1973G>T	c.(1972-1974)cGg>cTg	p.R658L		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	644					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|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)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAGGACAGCCGGGAGGACAGG	0.632																																						uc001fex.2		NA																	0				ovary(1)|skin(1)	2						c.(1972-1974)CGG>CTG		ATPase, class I, type 8B, member 2 isoform a							34.0	38.0	37.0					1																	154316484		2202	4299	6501	SO:0001583	missense	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154316484G>T	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.1973G>T	1.37:g.154316484G>T	ENSP00000357475:p.Arg658Leu						p.R658L	NM_020452	NP_065185	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		18	1973	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		644			Cytoplasmic (Potential).		B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	c.1973G>T	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050453	0.75960	.	.	ENSG00000143515	ENST00000368489	T	0.14266	2.52	5.5	5.5	0.81552	.	0.062767	0.64402	D	0.000011	T	0.49012	0.1532	H	0.97415	4	0.80722	D	1	D	0.71674	0.998	D	0.72338	0.977	T	0.66889	-0.5809	10	0.87932	D	0	.	18.1371	0.89623	0.0:0.0:1.0:0.0	.	658	P98198-3	.	L	658	ENSP00000357475:R658L	ENSP00000357475:R658L	R	+	2	0	ATP8B2	152583108	1.000000	0.71417	0.991000	0.47740	0.005000	0.04900	7.802000	0.85969	2.850000	0.98022	0.650000	0.86243	CGG		0.632	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		17	32	1	0	4.76e-15	5.98e-15	17	32				
KIAA0907	22889	broad.mit.edu	37	1	155895555	155895555	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:155895555C>A	ENST00000368321.3	-	7	784	c.761G>T	c.(760-762)gGt>gTt	p.G254V	KIAA0907_ENST00000482337.1_5'UTR|SCARNA4_ENST00000516999.1_RNA|KIAA0907_ENST00000368319.3_Missense_Mutation_p.G254V|KIAA0907_ENST00000368320.3_Missense_Mutation_p.G254V	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	254							RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			GCAGCCTGGACCTTCCACCTT	0.458																																						uc001fmi.1		NA																	0					0						c.(760-762)GGT>GTT		hypothetical protein LOC22889							92.0	85.0	87.0					1																	155895555		2203	4300	6503	SO:0001583	missense	22889							g.chr1:155895555C>A	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.761G>T	1.37:g.155895555C>A	ENSP00000357304:p.Gly254Val					KIAA0907_uc001fmj.1_Missense_Mutation_p.G254V|KIAA0907_uc009wrk.1_Intron|KIAA0907_uc009wrl.1_RNA|KIAA0907_uc001fml.1_Missense_Mutation_p.G254V|KIAA0907_uc001fmm.2_3'UTR	p.G254V	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		7	785	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		254					O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	c.761G>T	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.788278	0.90367	.	.	ENSG00000132680	ENST00000368321;ENST00000368320;ENST00000368319	D;D;D	0.92805	-3.11;-3.11;-3.11	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.97009	0.9023	M	0.91872	3.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97223	0.9879	10	0.87932	D	0	-10.1361	19.6917	0.96005	0.0:1.0:0.0:0.0	.	254;254;254	Q7Z7F0-3;Q7Z7F0-2;Q7Z7F0	.;.;K0907_HUMAN	V	254	ENSP00000357304:G254V;ENSP00000357303:G254V;ENSP00000357302:G254V	ENSP00000357302:G254V	G	-	2	0	KIAA0907	154162179	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.484000	0.81180	2.751000	0.94390	0.650000	0.86243	GGT		0.458	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		18	44	1	0	2.94e-08	3.53e-08	18	44				
RHBG	57127	broad.mit.edu	37	1	156348086	156348086	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:156348086C>T	ENST00000368249.1	+	4	607	c.569C>T	c.(568-570)gCc>gTc	p.A190V	RHBG_ENST00000400992.2_Missense_Mutation_p.A158V|RHBG_ENST00000368246.2_Missense_Mutation_p.A190V|RHBG_ENST00000255013.3_Missense_Mutation_p.A121V|RHBG_ENST00000451864.2_Missense_Mutation_p.A158V|RHBG_ENST00000537040.1_Intron	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	190					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	anchored component of plasma membrane (GO:0046658)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|spectrin-associated cytoskeleton (GO:0014731)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					ACCTTTGGTGCCTACTTCGGG	0.642																																						uc010pho.1		NA																	0				ovary(2)	2						c.(568-570)GCC>GTC		Rhesus blood group, B glycoprotein							88.0	95.0	93.0					1																	156348086		2064	4225	6289	SO:0001583	missense	57127				transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr1:156348086C>T	AF193807		1q22	2013-05-22	2009-01-22		ENSG00000132677	ENSG00000132677		"""Solute carriers"""	14572	protein-coding gene	gene with protein product		607079	"""Rhesus blood group, B glycoprotein"""			10852913	Standard	NM_020407		Approved	SLC42A2	uc010pho.3	Q9H310	OTTHUMG00000024057	ENST00000368249.1:c.569C>T	1.37:g.156348086C>T	ENSP00000357232:p.Ala190Val					RHBG_uc010phm.1_Intron|RHBG_uc010phn.1_RNA|RHBG_uc001fos.2_Missense_Mutation_p.A121V|RHBG_uc009wrz.2_Missense_Mutation_p.A158V|RHBG_uc001for.2_Missense_Mutation_p.A160V	p.A190V	NM_020407	NP_065140	Q9H310	RHBG_HUMAN			4	607	+	Hepatocellular(266;0.158)		190			Helical; (Potential).		A8K475|Q5SZW4|Q5SZW6|Q5SZW7|Q6P193|Q6YJI2|Q6YJI3	Missense_Mutation	SNP	ENST00000368249.1	37	c.569C>T		.	.	.	.	.	.	.	.	.	.	C	21.1	4.101559	0.76983	.	.	ENSG00000132677	ENST00000368249;ENST00000368246;ENST00000400992;ENST00000255013;ENST00000451864	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	4.68	4.68	0.58851	Ammonium transporter AmtB-like (3);	0.000000	0.85682	D	0.000000	T	0.60625	0.2283	H	0.94183	3.505	0.80722	D	1	D;D;D	0.76494	0.958;0.981;0.999	P;P;D	0.71184	0.756;0.886;0.972	T	0.73616	-0.3926	10	0.87932	D	0	-30.5061	16.3174	0.82932	0.0:1.0:0.0:0.0	.	190;158;227	Q9H310;Q9H310-3;Q5SZW5	RHBG_HUMAN;.;.	V	190;190;158;121;158	ENSP00000357232:A190V;ENSP00000357229:A190V;ENSP00000383777:A158V;ENSP00000255013:A121V;ENSP00000389836:A158V	ENSP00000255013:A121V	A	+	2	0	RHBG	154614710	1.000000	0.71417	0.996000	0.52242	0.206000	0.24218	7.473000	0.81007	2.415000	0.81967	0.511000	0.50034	GCC		0.642	RHBG-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000060589.2	NM_001256395		7	161	0	0	0	0	7	161				
F11R	50848	broad.mit.edu	37	1	160969992	160969992	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:160969992T>A	ENST00000368026.6	-	5	809	c.535A>T	c.(535-537)Agc>Tgc	p.S179C	F11R_ENST00000472573.1_5'UTR|F11R_ENST00000537746.1_Missense_Mutation_p.S130C|F11R_ENST00000289779.3_3'UTR	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	179	Ig-like V-type 2.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			GCACGGGTGCTTTTGGGATTC	0.512																																						uc009wtt.2		NA																	0				ovary(2)	2						c.(535-537)AGC>TGC		F11 receptor precursor							148.0	136.0	140.0					1																	160969992		2203	4300	6503	SO:0001583	missense	50848				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction		g.chr1:160969992T>A	AF111713	CCDS1213.1	1q21.2-q21.3	2013-01-29	2003-02-07	2003-02-14	ENSG00000158769	ENSG00000158769		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14685	protein-coding gene	gene with protein product		605721	"""junctional adhesion molecule 1"""	JAM1		10395639, 7646439	Standard	NM_016946		Approved	PAM-1, JCAM, JAM-1, JAM-A, JAMA, CD321	uc009wtt.3	Q9Y624	OTTHUMG00000028602	ENST00000368026.6:c.535A>T	1.37:g.160969992T>A	ENSP00000357005:p.Ser179Cys					F11R_uc010pjv.1_Missense_Mutation_p.S130C|F11R_uc001fxe.3_Missense_Mutation_p.S179C|F11R_uc009wtu.2_Missense_Mutation_p.S179C|F11R_uc010pjw.1_Missense_Mutation_p.S183C|F11R_uc001fxf.3_Missense_Mutation_p.S179C	p.S179C	NM_016946	NP_058642	Q9Y624	JAM1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00207)		5	805	-	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		179			Ig-like V-type 2.|Extracellular (Potential).		B7Z941	Missense_Mutation	SNP	ENST00000368026.6	37	c.535A>T	CCDS1213.1	.	.	.	.	.	.	.	.	.	.	T	13.09	2.131823	0.37630	.	.	ENSG00000158769	ENST00000368026;ENST00000335772;ENST00000289779;ENST00000537746;ENST00000436182	T;T;T	0.63255	-0.03;-0.03;-0.03	5.16	4.03	0.46877	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.928793	0.09201	N	0.834690	T	0.57330	0.2046	M	0.67569	2.06	0.28197	N	0.927503	D;D;P;P;P	0.63046	0.965;0.992;0.935;0.935;0.935	B;P;B;B;B	0.53450	0.3;0.726;0.275;0.275;0.275	T	0.50154	-0.8861	10	0.66056	D	0.02	.	8.8459	0.35170	0.0:0.0886:0.0:0.9114	.	183;130;179;179;179	B7Z5W1;B7Z941;Q6FIB4;Q9Y624;D3DVF0	.;.;.;JAM1_HUMAN;.	C	179;179;179;130;183	ENSP00000357005:S179C;ENSP00000440812:S130C;ENSP00000394809:S183C	ENSP00000289779:S179C	S	-	1	0	F11R	159236616	0.667000	0.27484	0.693000	0.30195	0.002000	0.02628	1.655000	0.37345	0.980000	0.38523	0.460000	0.39030	AGC		0.512	F11R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071458.3	NM_016946		45	62	0	0	0	0	45	62				
TMCO1	54499	broad.mit.edu	37	1	165737484	165737484	+	Silent	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:165737484G>A	ENST00000392129.6	-	2	243	c.93C>T	c.(91-93)taC>taT	p.Y31Y	TMCO1_ENST00000367881.5_Silent_p.Y82Y|RP11-466F5.8_ENST00000423121.1_RNA|TMCO1_ENST00000464650.1_5'UTR|TMCO1_ENST00000580248.1_5'UTR	NM_001256165.1|NM_019026.4	NP_001243094.1|NP_061899.2	Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1	31						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					TGTCTGTCCTGTAAACCAGGA	0.373																																						uc001gdj.3		NA																	0				central_nervous_system(1)	1						c.(91-93)TAC>TAT		transmembrane and coiled-coil domains 1							157.0	141.0	146.0					1																	165737484		2203	4300	6503	SO:0001819	synonymous_variant	54499					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr1:165737484G>A	AB020980	CCDS1251.1, CCDS1251.2	1q22-q25	2008-02-05	2005-07-13	2005-07-13	ENSG00000143183	ENSG00000143183			18188	protein-coding gene	gene with protein product		614123	"""transmembrane and coiled-coil domains 4"""	TMCC4		8619474, 9110174	Standard	NM_019026		Approved	HP10122	uc001gdj.5	Q9UM00	OTTHUMG00000034672	ENST00000392129.6:c.93C>T	1.37:g.165737484G>A						TMCO1_uc001gdl.3_Intron|TMCO1_uc001gdm.3_5'UTR|TMCO1_uc001gdk.3_Silent_p.Y19Y|TMCO1_uc001gdn.3_RNA|uc001gdo.2_5'Flank	p.Y31Y	NM_019026	NP_061899	Q9UM00	TMCO1_HUMAN			2	242	-	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)		31					B2REA0|O75545|Q9BZS3|Q9BZU8	Silent	SNP	ENST00000392129.6	37	c.93C>T																																																																																					0.373	TMCO1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467850.1	NM_019026		12	19	0	0	0	0	12	19				
ILDR2	387597	broad.mit.edu	37	1	166892037	166892037	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:166892037G>C	ENST00000271417.3	-	8	1059	c.1004C>G	c.(1003-1005)aCc>aGc	p.T335S	ILDR2_ENST00000528703.1_Missense_Mutation_p.T276S|ILDR2_ENST00000529071.1_Missense_Mutation_p.T316S|ILDR2_ENST00000469934.2_Missense_Mutation_p.T335S|ILDR2_ENST00000526687.1_Missense_Mutation_p.T227S|ILDR2_ENST00000525740.1_Missense_Mutation_p.T208S|ILDR2_ENST00000529387.1_Intron	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	335					cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						TTCTGAGATGGTGTTGTTATC	0.478																																						uc001gdx.1		NA																	0				ovary(1)	1						c.(1003-1005)ACC>AGC		immunoglobulin-like domain containing receptor							116.0	109.0	111.0					1																	166892037		2203	4300	6503	SO:0001583	missense	387597					integral to membrane		g.chr1:166892037G>C	AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"""LISCH-like"""		"""chromosome 1 open reading frame 32"""	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.1004C>G	1.37:g.166892037G>C	ENSP00000271417:p.Thr335Ser						p.T335S	NM_199351	NP_955383	Q71H61	ILDR2_HUMAN			8	1060	-			335			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000271417.3	37	c.1004C>G	CCDS1256.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.324853	0.41197	.	.	ENSG00000143195	ENST00000271417;ENST00000525740;ENST00000469934;ENST00000529071;ENST00000526687;ENST00000528703	T;T;T;T;T;T	0.76968	0.58;-1.06;0.58;0.58;-1.06;-0.05	5.24	5.24	0.73138	.	0.068073	0.56097	D	0.000022	T	0.77870	0.4195	L	0.45137	1.4	0.28794	N	0.899133	D	0.69078	0.997	D	0.75020	0.985	T	0.71388	-0.4608	10	0.28530	T	0.3	.	16.9991	0.86377	0.0:0.0:1.0:0.0	.	335	Q71H61	ILDR2_HUMAN	S	335;208;335;316;227;276	ENSP00000271417:T335S;ENSP00000436120:T208S;ENSP00000437008:T335S;ENSP00000436882:T316S;ENSP00000434273:T227S;ENSP00000432750:T276S	ENSP00000271417:T335S	T	-	2	0	ILDR2	165158661	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	4.049000	0.57397	2.427000	0.82271	0.561000	0.74099	ACC		0.478	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2	NM_199351		32	72	0	0	0	0	32	72				
ADCY10	55811	broad.mit.edu	37	1	167868789	167868789	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:167868789C>T	ENST00000367851.4	-	6	698	c.514G>A	c.(514-516)Gtg>Atg	p.V172M	ADCY10_ENST00000367848.1_Missense_Mutation_p.V80M|ADCY10_ENST00000545172.1_Missense_Mutation_p.V19M	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	172	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ACATCGTCCACTGCCTGACCA	0.507																																						uc001ger.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(514-516)GTG>ATG		adenylate cyclase 10							95.0	77.0	83.0					1																	167868789		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167868789C>T	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.514G>A	1.37:g.167868789C>T	ENSP00000356825:p.Val172Met					ADCY10_uc009wvk.2_Missense_Mutation_p.V80M|ADCY10_uc010plj.1_Missense_Mutation_p.V19M|ADCY10_uc009wvl.2_Missense_Mutation_p.V171M|ADCY10_uc009wvm.2_RNA	p.V172M	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN			6	812	-			172			Guanylate cyclase 1.		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.514G>A	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.538566	0.45176	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;D;T	0.88664	0.74;-2.41;0.95	5.31	5.31	0.75309	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.118924	0.37483	N	0.002069	D	0.91610	0.7349	L	0.53249	1.67	0.29147	N	0.878642	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.92443	0.5963	9	0.72032	D	0.01	-28.9241	14.8509	0.70295	0.0:1.0:0.0:0.0	.	19;80;172	F5GWS5;Q96PN6-2;Q96PN6	.;.;ADCYA_HUMAN	M	19;172;80	ENSP00000441992:V19M;ENSP00000356825:V172M;ENSP00000356822:V80M	ENSP00000356822:V80M	V	-	1	0	ADCY10	166135413	0.991000	0.36638	0.616000	0.29078	0.047000	0.14425	3.187000	0.50950	2.630000	0.89119	0.650000	0.86243	GTG		0.507	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		17	36	0	0	0	0	17	36				
COLGALT2	23127	broad.mit.edu	37	1	183923934	183923934	+	Missense_Mutation	SNP	C	C	G	rs375823749		TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:183923934C>G	ENST00000361927.4	-	7	1362	c.991G>C	c.(991-993)Gtt>Ctt	p.V331L	COLGALT2_ENST00000367520.3_Missense_Mutation_p.V68L|COLGALT2_ENST00000546159.1_Missense_Mutation_p.V331L	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	331					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)										TTAGGGACAACTGAGACATAC	0.448																																						uc001gqr.2		NA																	0				ovary(1)|breast(1)	2						c.(991-993)GTT>CTT		glycosyltransferase 25 domain containing 2							162.0	133.0	143.0					1																	183923934		2203	4300	6503	SO:0001583	missense	23127				lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity	g.chr1:183923934C>G	AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 17"", ""glycosyltransferase 25 domain containing 2"""	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.991G>C	1.37:g.183923934C>G	ENSP00000354960:p.Val331Leu					GLT25D2_uc010poj.1_Missense_Mutation_p.V331L|GLT25D2_uc001gqq.2_Missense_Mutation_p.V68L|GLT25D2_uc001gqs.2_Missense_Mutation_p.V211L	p.V331L	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN			7	1363	-			331					O60327|Q9BZR0	Missense_Mutation	SNP	ENST00000361927.4	37	c.991G>C	CCDS1360.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.692025	0.00731	.	.	ENSG00000198756	ENST00000546159;ENST00000361927;ENST00000367520	T;T	0.77489	-1.1;-1.09	4.84	-0.516	0.11950	.	0.653668	0.16015	N	0.233583	T	0.57975	0.2090	N	0.17082	0.46	0.09310	N	1	B;B;B	0.15930	0.015;0.0;0.0	B;B;B	0.18871	0.023;0.003;0.001	T	0.38351	-0.9665	10	0.27082	T	0.32	.	8.2981	0.31997	0.0:0.5878:0.2114:0.2008	.	331;331;68	F5H3T5;Q8IYK4;Q5SXQ3	.;GT252_HUMAN;.	L	331;331;68	ENSP00000439112:V331L;ENSP00000354960:V331L	ENSP00000354960:V331L	V	-	1	0	GLT25D2	182190557	0.000000	0.05858	0.113000	0.21522	0.345000	0.29048	-0.184000	0.09698	-0.625000	0.05604	-2.777000	0.00118	GTT		0.448	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086128.1	NM_015101		24	30	0	0	0	0	24	30				
PTGS2	5743	broad.mit.edu	37	1	186645174	186645174	+	Nonsense_Mutation	SNP	A	A	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:186645174A>C	ENST00000367468.5	-	8	1249	c.1113T>G	c.(1111-1113)taT>taG	p.Y371*	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	371					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	GATGCCAGTGATAGAGGGTGT	0.383																																						uc001gsb.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1111-1113)TAT>TAG		prostaglandin-endoperoxide synthase 2 precursor	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)						218.0	216.0	217.0					1																	186645174		2203	4300	6503	SO:0001587	stop_gained	5743				cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr1:186645174A>C	D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.1113T>G	1.37:g.186645174A>C	ENSP00000356438:p.Tyr371*					PTGS2_uc009wyo.2_Nonsense_Mutation_p.Y218*	p.Y371*	NM_000963	NP_000954	P35354	PGH2_HUMAN			8	1250	-			371				For cyclooxygenase activity (By similarity).	A8K802|Q16876	Nonsense_Mutation	SNP	ENST00000367468.5	37	c.1113T>G	CCDS1371.1	.	.	.	.	.	.	.	.	.	.	A	38	6.660589	0.97743	.	.	ENSG00000073756	ENST00000367468	.	.	.	5.6	-2.84	0.05751	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.6129	12.0742	0.53634	0.3535:0.0:0.6465:0.0	.	.	.	.	X	371	.	ENSP00000356438:Y371X	Y	-	3	2	PTGS2	184911797	1.000000	0.71417	0.942000	0.38095	0.995000	0.86356	1.781000	0.38644	-0.759000	0.04684	0.528000	0.53228	TAT		0.383	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	NM_000963		42	57	0	0	0	0	42	57				
CFH	3075	broad.mit.edu	37	1	196648779	196648779	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:196648779A>G	ENST00000359637.2	+	5	516	c.454A>G	c.(454-456)Ata>Gta	p.I152V	CFH_ENST00000439155.2_Missense_Mutation_p.I216V|CFH_ENST00000367429.4_Missense_Mutation_p.I216V			P08603	CFAH_HUMAN	complement factor H	216	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CCCAGATGTTATAAATGGATC	0.299																																						uc001gtj.3		NA																	0				skin(4)|ovary(1)|breast(1)	6						c.(646-648)ATA>GTA		complement factor H isoform a precursor							45.0	50.0	48.0					1																	196648779		2202	4295	6497	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196648779A>G	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.454A>G	1.37:g.196648779A>G	ENSP00000352658:p.Ile152Val					CFH_uc001gti.3_Missense_Mutation_p.I216V|CFH_uc009wyw.2_Missense_Mutation_p.I216V|CFH_uc009wyx.2_Missense_Mutation_p.I152V	p.I216V	NM_000186	NP_000177	P08603	CFAH_HUMAN			6	886	+			216			Sushi 4.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000359637.2	37	c.646A>G		.	.	.	.	.	.	.	.	.	.	A	0.320	-0.962226	0.02249	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.64438	-0.1;-0.1;-0.1	5.99	-12.0	0.00017	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.32852	0.0843	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.13594	0.006;0.001;0.008;0.005	B;B;B;B	0.20577	0.03;0.002;0.005;0.003	T	0.07462	-1.0771	9	0.22109	T	0.4	.	6.0449	0.19753	0.166:0.3203:0.4162:0.0975	.	152;216;216;216	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	V	216;216;216;152	ENSP00000356399:I216V;ENSP00000402656:I216V;ENSP00000352658:I152V	ENSP00000352658:I152V	I	+	1	0	CFH	194915402	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.052000	0.01401	-2.631000	0.00434	0.533000	0.62120	ATA		0.299	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186		6	17	0	0	0	0	6	17				
KIF21B	23046	broad.mit.edu	37	1	200978555	200978555	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:200978555G>A	ENST00000422435.2	-	2	419	c.103C>T	c.(103-105)Ccg>Tcg	p.P35S	KIF21B_ENST00000332129.2_Missense_Mutation_p.P35S|KIF21B_ENST00000461742.2_Missense_Mutation_p.P35S|KIF21B_ENST00000360529.5_Missense_Mutation_p.P35S	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	35	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GGCTCTCCCGGGGTAACAGAG	0.577																																						uc001gvs.1		NA																	0				ovary(3)|skin(3)	6						c.(103-105)CCG>TCG		kinesin family member 21B							93.0	93.0	93.0					1																	200978555		2203	4300	6503	SO:0001583	missense	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200978555G>A	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.103C>T	1.37:g.200978555G>A	ENSP00000411831:p.Pro35Ser					KIF21B_uc001gvr.1_Missense_Mutation_p.P35S|KIF21B_uc009wzl.1_Missense_Mutation_p.P35S|KIF21B_uc010ppn.1_Missense_Mutation_p.P35S	p.P35S	NM_017596	NP_060066	O75037	KI21B_HUMAN			2	420	-			35			Kinesin-motor.		B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.103C>T	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225896	0.58668	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59	4.75	4.75	0.60458	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	T	0.73313	0.3571	N	0.17872	0.535	0.80722	D	1	D;D;P;D	0.89917	1.0;1.0;0.895;1.0	D;D;P;D	0.91635	0.999;0.999;0.492;0.998	T	0.76950	-0.2769	10	0.72032	D	0.01	.	13.6507	0.62310	0.0:0.155:0.845:0.0	.	35;35;35;35	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	S	35	ENSP00000328494:P35S;ENSP00000353724:P35S;ENSP00000433808:P35S;ENSP00000411831:P35S	ENSP00000328494:P35S	P	-	1	0	KIF21B	199245178	1.000000	0.71417	0.981000	0.43875	0.978000	0.69477	7.595000	0.82710	2.456000	0.83038	0.655000	0.94253	CCG		0.577	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		4	78	0	0	0	0	4	78				
ADORA1	134	broad.mit.edu	37	1	203134630	203134630	+	Missense_Mutation	SNP	C	C	T	rs199949273		TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:203134630C>T	ENST00000367236.4	+	3	1504	c.583C>T	c.(583-585)Ctc>Ttc	p.L195F	ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000309502.3_Missense_Mutation_p.L195F|ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000337894.4_Missense_Mutation_p.L195F	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	195					activation of MAPKK activity (GO:0000186)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cognition (GO:0050890)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood pressure (GO:0045776)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heart contraction (GO:0045822)|negative regulation of hormone secretion (GO:0046888)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of mucus secretion (GO:0070256)|negative regulation of neurotrophin production (GO:0032900)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of vasodilation (GO:0045908)|nervous system development (GO:0007399)|phagocytosis (GO:0006909)|positive regulation of blood pressure (GO:0045777)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of nucleoside transport (GO:0032244)|positive regulation of peptide secretion (GO:0002793)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of protein dephosphorylation (GO:0035307)|protein targeting to membrane (GO:0006612)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glomerular filtration (GO:0003093)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|relaxation of vascular smooth muscle (GO:0060087)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|temperature homeostasis (GO:0001659)	asymmetric synapse (GO:0032279)|axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled adenosine receptor activity (GO:0001609)|phospholipase C activity (GO:0004629)|purine nucleoside binding (GO:0001883)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Adenosine(DB00640)|Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Gabapentin(DB00996)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Theobromine(DB01412)|Theophylline(DB00277)	CCCGCTTCTCCTCATGGTCCT	0.552																																						uc001gze.1		NA																	0				large_intestine(1)	1						c.(583-585)CTC>TTC		adenosine A1 receptor	Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)						147.0	152.0	150.0					1																	203134630		2203	4300	6503	SO:0001583	missense	134				induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane		g.chr1:203134630C>T	BC026340	CCDS1434.1	1q32.1	2012-08-08			ENSG00000163485	ENSG00000163485		"""GPCR / Class A : Adenosine receptors"""	262	protein-coding gene	gene with protein product		102775				1662665, 2541503	Standard	NM_001048230		Approved	RDC7	uc001gzf.1	P30542	OTTHUMG00000042125	ENST00000367236.4:c.583C>T	1.37:g.203134630C>T	ENSP00000356205:p.Leu195Phe					FMOD_uc010pqi.1_Intron|ADORA1_uc001gzf.1_Missense_Mutation_p.L195F|ADORA1_uc010pqg.1_Missense_Mutation_p.L127F|ADORA1_uc009xak.1_Missense_Mutation_p.P120L|ADORA1_uc010pqh.1_Missense_Mutation_p.L228F	p.L195F	NM_000674	NP_000665	P30542	AA1R_HUMAN			4	1016	+			195			Helical; Name=5; (Potential).		A6NFY5|A6NGP4|A8K1L3|B3KXQ4|D2CGD0|Q6FHK3|Q8TAM8	Missense_Mutation	SNP	ENST00000367236.4	37	c.583C>T	CCDS1434.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.764869	0.49574	.	.	ENSG00000163485	ENST00000309502;ENST00000367236;ENST00000337894	T;T;T	0.42131	0.98;0.98;0.98	5.51	5.51	0.81932	GPCR, rhodopsin-like superfamily (1);	0.125468	0.53938	D	0.000045	T	0.52613	0.1745	M	0.77406	2.37	0.54753	D	0.999989	P;P;B	0.43231	0.666;0.801;0.096	B;B;B	0.42522	0.255;0.39;0.061	T	0.60311	-0.7288	10	0.66056	D	0.02	-42.379	19.4035	0.94640	0.0:1.0:0.0:0.0	.	228;127;195	B7Z379;B7Z1L9;P30542	.;.;AA1R_HUMAN	F	195	ENSP00000308549:L195F;ENSP00000356205:L195F;ENSP00000338435:L195F	ENSP00000308549:L195F	L	+	1	0	ADORA1	201401253	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.585000	0.46111	2.586000	0.87340	0.561000	0.74099	CTC		0.552	ADORA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100273.1	NM_000674		23	76	0	0	0	0	23	76				
PCNXL2	80003	broad.mit.edu	37	1	233397851	233397851	+	Silent	SNP	A	A	G			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:233397851A>G	ENST00000258229.9	-	3	654	c.420T>C	c.(418-420)ccT>ccC	p.P140P	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	140						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGCGGAGGGGAGGCGTGGAGA	0.488																																						uc001hvl.2		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(418-420)CCT>CCC		pecanex-like 2							204.0	218.0	214.0					1																	233397851		1982	4154	6136	SO:0001819	synonymous_variant	80003					integral to membrane		g.chr1:233397851A>G	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.420T>C	1.37:g.233397851A>G						PCNXL2_uc009xfu.2_5'Flank|PCNXL2_uc009xfv.1_5'Flank	p.P140P	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN			3	655	-		all_cancers(173;0.0347)|Prostate(94;0.137)	140					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP	ENST00000258229.9	37	c.420T>C	CCDS44335.1																																																																																				0.488	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		3	137	0	0	0	0	3	137				
RGS7	6000	broad.mit.edu	37	1	241032090	241032090	+	Silent	SNP	T	T	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:241032090T>A	ENST00000407727.1	-	7	512	c.513A>T	c.(511-513)gcA>gcT	p.A171A	RGS7_ENST00000366563.1_Silent_p.A171A|RGS7_ENST00000366562.4_Silent_p.A171A|RGS7_ENST00000366565.1_Silent_p.A171A|RGS7_ENST00000446183.2_Silent_p.A87A|RGS7_ENST00000348120.2_Silent_p.A118A|RGS7_ENST00000366564.1_Silent_p.A171A|RGS7_ENST00000401882.1_Silent_p.A118A|RGS7_ENST00000331110.7_Silent_p.A145A			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	171					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CTTGTGCTTCTGCTTGCATGA	0.448																																						uc001hyv.2		NA																	0				ovary(4)|skin(2)|kidney(1)	7						c.(511-513)GCA>GCT		regulator of G-protein signaling 7							166.0	167.0	167.0					1																	241032090		2203	4300	6503	SO:0001819	synonymous_variant	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:241032090T>A	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.513A>T	1.37:g.241032090T>A						RGS7_uc010pyh.1_Silent_p.A145A|RGS7_uc010pyj.1_Silent_p.A87A|RGS7_uc001hyu.2_Silent_p.A171A|RGS7_uc009xgn.1_Silent_p.A118A|RGS7_uc001hyw.2_Silent_p.A171A|RGS7_uc001hyt.2_Silent_p.A3A	p.A171A	NM_002924	NP_002915	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		8	843	-		all_cancers(173;0.0131)	171					Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Silent	SNP	ENST00000407727.1	37	c.513A>T																																																																																					0.448	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		12	145	0	0	0	0	12	145				
GATA3	2625	broad.mit.edu	37	10	8097767	8097767	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr10:8097767T>A	ENST00000346208.3	+	2	604	c.149T>A	c.(148-150)cTt>cAt	p.L50H	RP11-379F12.3_ENST00000458727.1_lincRNA|GATA3_ENST00000379328.3_Missense_Mutation_p.L50H|RP11-379F12.4_ENST00000418270.1_lincRNA|GATA3-AS1_ENST00000355358.1_lincRNA			P23771	GATA3_HUMAN	GATA binding protein 3	50					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						GTGGATGTGCTTTTTAACATC	0.657			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															uc001ika.2		NA		Rec	yes		10	10p15	2625	F|N|S	GATA binding protein 3	yes	HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE)	E			breast		0				breast(17)|ovary(3)|central_nervous_system(2)	22						c.(148-150)CTT>CAT		GATA binding protein 3 isoform 2							36.0	30.0	32.0					10																	8097767		2201	4295	6496	SO:0001583	missense	2625				aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr10:8097767T>A	X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.149T>A	10.37:g.8097767T>A	ENSP00000341619:p.Leu50His					FLJ45983_uc010qbe.1_5'Flank|FLJ45983_uc001ijx.1_5'Flank|FLJ45983_uc010qbf.1_5'Flank|FLJ45983_uc010qbg.1_5'Flank|FLJ45983_uc001ijy.1_5'Flank|GATA3_uc001ijz.2_Missense_Mutation_p.L50H	p.L50H	NM_002051	NP_002042	P23771	GATA3_HUMAN			2	706	+			50					Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	ENST00000346208.3	37	c.149T>A	CCDS7083.1	.	.	.	.	.	.	.	.	.	.	T	28.5	4.929337	0.92389	.	.	ENSG00000107485	ENST00000379328;ENST00000544011;ENST00000346208	D;D	0.97089	-4.24;-4.21	4.83	4.83	0.62350	.	0.124076	0.52532	D	0.000064	D	0.97632	0.9224	M	0.72479	2.2	0.58432	D	0.999999	D;P	0.63880	0.993;0.897	P;P	0.60949	0.635;0.881	D	0.97536	1.0083	9	.	.	.	-13.6867	13.5676	0.61828	0.0:0.0:0.0:1.0	.	50;50	P23771;P23771-2	GATA3_HUMAN;.	H	50	ENSP00000368632:L50H;ENSP00000341619:L50H	.	L	+	2	0	GATA3	8137773	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.651000	0.83577	1.794000	0.52575	0.459000	0.35465	CTT		0.657	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295		6	3	0	0	0	0	6	3				
ERCC6	2074	broad.mit.edu	37	10	50678456	50678456	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr10:50678456T>C	ENST00000355832.5	-	18	3628	c.3550A>G	c.(3550-3552)Aaa>Gaa	p.K1184E	RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Missense_Mutation_p.K554E|ERCC6_ENST00000465653.1_5'Flank	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	1184					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TGTTTTGTTTTTGACTTGTGC	0.388								Direct reversal of damage;Nucleotide excision repair (NER)																														uc001jhs.3		NA																	0				lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						c.(3550-3552)AAA>GAA	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							187.0	187.0	187.0					10																	50678456		2203	4300	6503	SO:0001583	missense	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50678456T>C	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.3550A>G	10.37:g.50678456T>C	ENSP00000348089:p.Lys1184Glu					ERCC6_uc009xod.2_Missense_Mutation_p.K344E|ERCC6_uc010qgr.1_Missense_Mutation_p.K554E|ERCC6_uc001jhr.3_Missense_Mutation_p.K552E	p.K1184E	NM_000124	NP_000115	Q03468	ERCC6_HUMAN			18	3704	-			1184					D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	c.3550A>G	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.733427	0.89482	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	D;D	0.86030	-2.06;-1.72	5.65	5.65	0.86999	.	.	.	.	.	D	0.92071	0.7487	M	0.80616	2.505	0.54753	D	0.999988	P;D	0.89917	0.911;1.0	B;D	0.66716	0.311;0.946	D	0.92556	0.6054	9	0.54805	T	0.06	-30.4075	16.17	0.81801	0.0:0.0:0.0:1.0	.	1184;561	Q03468;Q59FF6	ERCC6_HUMAN;.	E	1184;561;554	ENSP00000348089:K1184E;ENSP00000445134:K554E	ENSP00000348089:K1184E	K	-	1	0	ERCC6	50348462	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	6.487000	0.73633	2.279000	0.76181	0.533000	0.62120	AAA		0.388	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		68	100	0	0	0	0	68	100				
KAT6B	23522	broad.mit.edu	37	10	76789017	76789017	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr10:76789017G>A	ENST00000287239.4	+	18	4924	c.4435G>A	c.(4435-4437)Gtc>Atc	p.V1479I	KAT6B_ENST00000372711.1_Missense_Mutation_p.V1296I|KAT6B_ENST00000372725.1_Missense_Mutation_p.V1187I|KAT6B_ENST00000372714.1_Missense_Mutation_p.V1187I|KAT6B_ENST00000372724.1_Missense_Mutation_p.V1187I	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1479					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GGACTGTGGCGTCGACCTGAC	0.527																																						uc001jwn.1		NA								T					CREBBP		AML		0				central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16						c.(4435-4437)GTC>ATC		MYST histone acetyltransferase (monocytic							69.0	72.0	71.0					10																	76789017		2203	4300	6503	SO:0001583	missense	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76789017G>A	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.4435G>A	10.37:g.76789017G>A	ENSP00000287239:p.Val1479Ile					MYST4_uc001jwo.1_Missense_Mutation_p.V1187I|MYST4_uc001jwp.1_Missense_Mutation_p.V1296I	p.V1479I	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN			18	4928	+	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)		1479					O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.4435G>A	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	G	0.078	-1.188167	0.01607	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.77098	-1.06;-1.06;-1.07;-1.06;-1.06	4.91	0.673	0.17941	.	0.355374	0.20299	N	0.095078	T	0.56731	0.2005	N	0.22421	0.69	0.09310	N	1	P;B;P	0.40211	0.707;0.0;0.583	B;B;B	0.33960	0.173;0.0;0.084	T	0.49916	-0.8888	10	0.38643	T	0.18	-1.8151	7.467	0.27326	0.217:0.1215:0.6615:0.0	.	1296;1187;1479	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	I	1187;1187;1479;1187;1296	ENSP00000361810:V1187I;ENSP00000361809:V1187I;ENSP00000287239:V1479I;ENSP00000361799:V1187I;ENSP00000361796:V1296I	ENSP00000287239:V1479I	V	+	1	0	KAT6B	76459023	1.000000	0.71417	0.242000	0.24170	0.051000	0.14879	3.337000	0.52120	0.482000	0.27582	0.561000	0.74099	GTC		0.527	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		16	36	0	0	0	0	16	36				
PLCE1	51196	broad.mit.edu	37	10	95931086	95931086	+	Missense_Mutation	SNP	C	C	G	rs369152754		TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr10:95931086C>G	ENST00000371380.3	+	3	1877	c.1642C>G	c.(1642-1644)Cgc>Ggc	p.R548G	PLCE1_ENST00000260766.3_Missense_Mutation_p.R548G|PLCE1_ENST00000371385.3_Missense_Mutation_p.R240G|PLCE1_ENST00000371375.1_Missense_Mutation_p.R240G			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	548	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.		R -> L (in dbSNP:rs17417407).		activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GACTATTTACCGCAGGGTCTT	0.547																																						uc001kjk.2		NA																	0				ovary(2)|skin(1)	3						c.(1642-1644)CGC>GGC		phospholipase C, epsilon 1 isoform 1							156.0	156.0	156.0					10																	95931086		2038	4189	6227	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:95931086C>G		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.1642C>G	10.37:g.95931086C>G	ENSP00000360431:p.Arg548Gly					PLCE1_uc010qnx.1_Missense_Mutation_p.R548G|PLCE1_uc001kjm.2_Missense_Mutation_p.R240G	p.R548G	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN			4	2276	+		Colorectal(252;0.0458)	548			Ras-GEF.		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.1642C>G	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156594	0.78114	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	5.84	5.84	0.93424	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.249629	0.34268	N	0.004113	T	0.48995	0.1531	L	0.34521	1.04	0.44024	D	0.996749	D;D;D	0.69078	0.997;0.992;0.997	D;P;D	0.70935	0.971;0.795;0.951	T	0.39396	-0.9616	10	0.49607	T	0.09	.	15.7248	0.77747	0.1372:0.8628:0.0:0.0	.	548;240;548	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	G	548;548;240;240	ENSP00000260766:R548G;ENSP00000360431:R548G;ENSP00000360438:R240G;ENSP00000360426:R240G	ENSP00000260766:R548G	R	+	1	0	PLCE1	95921076	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	4.121000	0.57904	2.758000	0.94735	0.655000	0.94253	CGC		0.547	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		57	121	0	0	0	0	57	121				
SEC31B	25956	broad.mit.edu	37	10	102247816	102247816	+	Nonsense_Mutation	SNP	C	C	A	rs550280564		TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr10:102247816C>A	ENST00000370345.3	-	25	3425	c.3328G>T	c.(3328-3330)Gag>Tag	p.E1110*		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	1110					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		TATAGATACTCCAGACGCTGG	0.527																																						uc001krc.1		NA																	0				ovary(1)	1						c.(3328-3330)GAG>TAG		SEC31 homolog B							92.0	84.0	87.0					10																	102247816		2203	4300	6503	SO:0001587	stop_gained	25956				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		g.chr10:102247816C>A	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.3328G>T	10.37:g.102247816C>A	ENSP00000359370:p.Glu1110*					SEC31B_uc010qpo.1_Nonsense_Mutation_p.E1109*|SEC31B_uc001krd.1_Nonsense_Mutation_p.E647*|SEC31B_uc001krf.1_Nonsense_Mutation_p.E543*|SEC31B_uc001kre.1_Nonsense_Mutation_p.E541*	p.E1110*	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)	25	3430	-		Colorectal(252;0.117)	1110					B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Nonsense_Mutation	SNP	ENST00000370345.3	37	c.3328G>T	CCDS7495.1	.	.	.	.	.	.	.	.	.	.	C	40	8.384851	0.98786	.	.	ENSG00000075826	ENST00000370345	.	.	.	4.8	4.8	0.61643	.	0.112301	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-5.9075	17.0252	0.86443	0.0:1.0:0.0:0.0	.	.	.	.	X	1110	.	ENSP00000359370:E1110X	E	-	1	0	SEC31B	102237806	0.992000	0.36948	0.229000	0.23960	0.529000	0.34654	6.282000	0.72639	2.492000	0.84095	0.561000	0.74099	GAG		0.527	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490		11	21	1	0	6.4e-05	7.19e-05	11	21				
ZDHHC6	64429	broad.mit.edu	37	10	114194142	114194142	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr10:114194142A>T	ENST00000369405.3	-	7	1239	c.816T>A	c.(814-816)ttT>ttA	p.F272L	ZDHHC6_ENST00000369404.3_Missense_Mutation_p.F268L|ZDHHC6_ENST00000482410.1_5'Flank	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	272					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		ATACCTGTTTAAAGTTCCTCC	0.398																																						uc001kzv.2		NA																	0					0						c.(814-816)TTT>TTA		zinc finger, DHHC-type containing 6							113.0	104.0	107.0					10																	114194142		2203	4300	6503	SO:0001583	missense	64429					integral to membrane	acyltransferase activity|zinc ion binding	g.chr10:114194142A>T	AK025605	CCDS7574.1	10q26.11	2008-05-02			ENSG00000023041	ENSG00000023041		"""Zinc fingers, DHHC-type"""	19160	protein-coding gene	gene with protein product							Standard	NM_022494		Approved	ZNF376, FLJ21952	uc001kzv.3	Q9H6R6	OTTHUMG00000019062	ENST00000369405.3:c.816T>A	10.37:g.114194142A>T	ENSP00000358413:p.Phe272Leu					ZDHHC6_uc001kzw.2_Missense_Mutation_p.F268L|ZDHHC6_uc009xya.1_Missense_Mutation_p.F272L	p.F272L	NM_022494	NP_071939	Q9H6R6	ZDHC6_HUMAN		Epithelial(162;0.0291)|all cancers(201;0.117)	7	1240	-		Colorectal(252;0.198)	272					D3DRB6|Q53G45|Q96IV7|Q9H605	Missense_Mutation	SNP	ENST00000369405.3	37	c.816T>A	CCDS7574.1	.	.	.	.	.	.	.	.	.	.	A	7.036	0.561511	0.13498	.	.	ENSG00000023041	ENST00000369405;ENST00000369404	T;T	0.64085	0.66;-0.08	5.6	-1.05	0.10036	.	0.049530	0.85682	N	0.000000	T	0.38054	0.1026	N	0.22421	0.69	0.50171	D	0.999857	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.12837	-1.0532	10	0.10902	T	0.67	-1.5171	8.2274	0.31577	0.3424:0.1374:0.5203:0.0	.	268;272	Q9H6R6-2;Q9H6R6	.;ZDHC6_HUMAN	L	272;268	ENSP00000358413:F272L;ENSP00000358412:F268L	ENSP00000358412:F268L	F	-	3	2	ZDHHC6	114184132	0.926000	0.31397	0.991000	0.47740	0.961000	0.63080	0.015000	0.13355	-0.343000	0.08351	-0.334000	0.08254	TTT		0.398	ZDHHC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050393.1	NM_022494		5	60	0	0	0	0	5	60				
HABP2	3026	broad.mit.edu	37	10	115341746	115341746	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr10:115341746G>A	ENST00000351270.3	+	9	1046	c.950G>A	c.(949-951)gGc>gAc	p.G317D	HABP2_ENST00000542051.1_Missense_Mutation_p.G291D|HABP2_ENST00000541666.1_Intron	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	317	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	glycosaminoglycan binding (GO:0005539)|serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)	Hyaluronan(DB08818)	ATCTATGGAGGCTTTAAGAGC	0.587																																						uc001lai.3		NA																	0				ovary(2)|skin(1)	3						c.(949-951)GGC>GAC		hyaluronan binding protein 2 preproprotein							82.0	88.0	86.0					10																	115341746		2203	4300	6503	SO:0001583	missense	3026				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity	g.chr10:115341746G>A		CCDS7577.1, CCDS53579.1	10q25.3	2008-08-01	2001-11-28		ENSG00000148702	ENSG00000148702			4798	protein-coding gene	gene with protein product	"""plasma hyaluronan binding protein"", ""factor VII activating protein"""	603924	"""hyaluronan-binding protein 2"""			8827452, 12437095	Standard	NM_004132		Approved	HABP, PHBP, HGFAL, FSAP	uc001lai.4	Q14520	OTTHUMG00000019073	ENST00000351270.3:c.950G>A	10.37:g.115341746G>A	ENSP00000277903:p.Gly317Asp					HABP2_uc010qrz.1_Intron	p.G317D	NM_004132	NP_004123	Q14520	HABP2_HUMAN		Epithelial(162;0.00319)|all cancers(201;0.0112)	9	1053	+		Colorectal(252;0.0233)|Breast(234;0.0672)	317			Peptidase S1.		A8K467|B7Z8U5|F5H5M6|O00663	Missense_Mutation	SNP	ENST00000351270.3	37	c.950G>A	CCDS7577.1	.	.	.	.	.	.	.	.	.	.	G	32	5.178968	0.94846	.	.	ENSG00000148702	ENST00000542051;ENST00000351270	D;D	0.96685	-4.09;-4.09	6.17	6.17	0.99709	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.98874	0.9619	H	0.95816	3.725	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98911	1.0780	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	317	Q14520	HABP2_HUMAN	D	291;317	ENSP00000443283:G291D;ENSP00000277903:G317D	ENSP00000277903:G317D	G	+	2	0	HABP2	115331736	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	9.160000	0.94734	2.941000	0.99782	0.655000	0.94253	GGC		0.587	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050428.1	NM_004132		7	97	0	0	0	0	7	97				
EIF3A	8661	broad.mit.edu	37	10	120802159	120802159	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr10:120802159G>T	ENST00000369144.3	-	19	3000	c.2873C>A	c.(2872-2874)cCc>cAc	p.P958H	EIF3A_ENST00000541549.1_Missense_Mutation_p.P924H	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		GCCACGCCGGGGAACCCGATC	0.582																																						uc001ldu.2		NA																	0					0						c.(2872-2874)CCC>CAC		eukaryotic translation initiation factor 3,							113.0	117.0	116.0					10																	120802159		2203	4300	6503	SO:0001583	missense	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120802159G>T	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.2873C>A	10.37:g.120802159G>T	ENSP00000358140:p.Pro958His					EIF3A_uc010qsu.1_Missense_Mutation_p.P924H|EIF3A_uc009xzg.1_5'UTR	p.P958H	NM_003750	NP_003741	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	19	3019	-		Lung NSC(174;0.094)|all_lung(145;0.123)	958			4.|Asp-rich.|25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].		B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	c.2873C>A	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.018032	0.54576	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.24723	1.84;1.84	6.17	5.26	0.73747	.	0.000000	0.39210	N	0.001435	T	0.48003	0.1476	M	0.78049	2.395	0.58432	D	0.999999	D	0.62365	0.991	P	0.57324	0.818	T	0.53143	-0.8480	10	0.56958	D	0.05	-4.7078	15.8836	0.79222	0.0651:0.0:0.9349:0.0	.	958	Q14152	EIF3A_HUMAN	H	958;924	ENSP00000358140:P958H;ENSP00000438178:P924H	ENSP00000358140:P958H	P	-	2	0	EIF3A	120792149	1.000000	0.71417	0.967000	0.41034	0.733000	0.41908	3.960000	0.56752	1.602000	0.50124	0.655000	0.94253	CCC		0.582	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		46	118	1	0	4.22e-32	5.48e-32	46	118				
BAG3	9531	broad.mit.edu	37	10	121436667	121436667	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr10:121436667A>G	ENST00000369085.3	+	4	1907	c.1601A>G	c.(1600-1602)aAg>aGg	p.K534R		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	534					brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of apoptotic process (GO:0043066)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|Z disc (GO:0030018)				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		GCAGCAGACAAGGGCAAGAAA	0.552																																						uc001lem.2		NA																	0				ovary(2)	2						c.(1600-1602)AAG>AGG		BCL2-associated athanogene 3							88.0	88.0	88.0					10																	121436667		2203	4300	6503	SO:0001583	missense	9531				anti-apoptosis|apoptosis|protein folding	cytosol		g.chr10:121436667A>G	AF095193	CCDS7615.1	10q25.2-q26.2	2014-09-17			ENSG00000151929	ENSG00000151929			939	protein-coding gene	gene with protein product		603883				9873016, 18094623	Standard	XM_005270287		Approved		uc001lem.3	O95817	OTTHUMG00000019155	ENST00000369085.3:c.1601A>G	10.37:g.121436667A>G	ENSP00000358081:p.Lys534Arg					BAG3_uc001lel.2_Missense_Mutation_p.K533R	p.K534R	NM_004281	NP_004272	O95817	BAG3_HUMAN		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)	4	1907	+		Lung NSC(174;0.109)|all_lung(145;0.142)	534					A8K5L8|Q3B763|Q9NT20|Q9P120	Missense_Mutation	SNP	ENST00000369085.3	37	c.1601A>G	CCDS7615.1	.	.	.	.	.	.	.	.	.	.	A	15.32	2.799092	0.50208	.	.	ENSG00000151929	ENST00000369085	T	0.76968	-1.06	5.62	3.23	0.37069	.	0.726116	0.13216	N	0.404776	T	0.65913	0.2737	L	0.34521	1.04	0.26343	N	0.977328	B;B	0.18461	0.028;0.028	B;B	0.15870	0.014;0.014	T	0.56780	-0.7922	10	0.56958	D	0.05	-7.8685	7.0164	0.24890	0.6442:0.284:0.0717:0.0	.	534;534	O95817;Q53GY1	BAG3_HUMAN;.	R	534	ENSP00000358081:K534R	ENSP00000358081:K534R	K	+	2	0	BAG3	121426657	0.994000	0.37717	0.731000	0.30826	0.412000	0.31113	1.969000	0.40510	0.387000	0.25024	0.533000	0.62120	AAG		0.552	BAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050662.1	NM_004281		23	67	0	0	0	0	23	67				
MUC5B	727897	broad.mit.edu	37	11	1256320	1256320	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr11:1256320G>A	ENST00000529681.1	+	22	2694	c.2636G>A	c.(2635-2637)tGc>tAc	p.C879Y	MUC5B_ENST00000447027.1_Missense_Mutation_p.C882Y	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	879	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TGCAGCACCTGCAGGAACCGG	0.677																																						uc009ycr.1		NA																	0					0						c.(4612-4614)TGC>TAC		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							32.0	39.0	37.0					11																	1256320		2067	4202	6269	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1256320G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2636G>A	11.37:g.1256320G>A	ENSP00000436812:p.Cys879Tyr					MUC5B_uc009yct.1_Missense_Mutation_p.C879Y|MUC5B_uc001ltb.2_Missense_Mutation_p.C882Y|MUC5B_uc001lta.2_Missense_Mutation_p.C547Y	p.C1538Y	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	38	4739	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	879			VWFC 1.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.4613G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	g	14.42	2.531536	0.45073	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.27402	1.67;1.67	4.36	4.36	0.52297	von Willebrand factor, type C (1);	.	.	.	.	T	0.73544	0.3600	H	0.99143	4.445	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	D	0.86500	0.1803	9	0.87932	D	0	.	17.1491	0.86773	0.0:0.0:1.0:0.0	.	879;1538;882	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	Y	879;882;880;915	ENSP00000436812:C879Y;ENSP00000415793:C882Y	ENSP00000343037:C880Y	C	+	2	0	MUC5B	1212896	1.000000	0.71417	0.651000	0.29564	0.839000	0.47603	9.444000	0.97578	2.266000	0.75297	0.550000	0.68814	TGC		0.677	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		10	16	0	0	0	0	10	16				
ILK	3611	broad.mit.edu	37	11	6631495	6631495	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr11:6631495G>C	ENST00000396751.2	+	11	1651	c.1195G>C	c.(1195-1197)Gag>Cag	p.E399Q	ILK_ENST00000299421.4_Missense_Mutation_p.E399Q|RP11-732A19.2_ENST00000527398.1_RNA|ILK_ENST00000526711.1_3'UTR|ILK_ENST00000528995.1_Missense_Mutation_p.E338Q|TAF10_ENST00000531760.1_5'Flank|ILK_ENST00000420936.2_Missense_Mutation_p.E399Q|ILK_ENST00000537806.1_Missense_Mutation_p.E265Q	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase	399	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell junction assembly (GO:0034329)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|extracellular fibril organization (GO:0043206)|fibroblast migration (GO:0010761)|integrin-mediated signaling pathway (GO:0007229)|myelin assembly (GO:0032288)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|peptidyl-serine phosphorylation (GO:0018105)|platelet aggregation (GO:0070527)|positive regulation of axon extension (GO:0045773)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		CTCCAATATGGAGATTGGAAT	0.488																																						uc001mee.2		NA																	0				central_nervous_system(1)	1						c.(1195-1197)GAG>CAG		integrin-linked kinase							85.0	86.0	86.0					11																	6631495		2201	4296	6497	SO:0001583	missense	3611				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity	g.chr11:6631495G>C	U40282	CCDS7768.1, CCDS60712.1, CCDS60713.1	11p15.4	2014-09-17			ENSG00000166333	ENSG00000166333		"""Ankyrin repeat domain containing"""	6040	protein-coding gene	gene with protein product		602366				8538749	Standard	NM_004517		Approved		uc001mef.3	Q13418	OTTHUMG00000133407	ENST00000396751.2:c.1195G>C	11.37:g.6631495G>C	ENSP00000379975:p.Glu399Gln					ILK_uc001mef.2_Missense_Mutation_p.E399Q|ILK_uc010rap.1_Missense_Mutation_p.E265Q|ILK_uc010raq.1_Missense_Mutation_p.E338Q|ILK_uc001meg.2_Missense_Mutation_p.E245Q|ILK_uc001meh.2_Missense_Mutation_p.E399Q|ILK_uc001mei.2_Missense_Mutation_p.E25Q	p.E399Q	NM_001014794	NP_001014794	Q13418	ILK_HUMAN		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)	12	1330	+		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)	399			Protein kinase.		B7Z1I0|B7Z418|D3DQU0|P57043|Q68DZ3	Missense_Mutation	SNP	ENST00000396751.2	37	c.1195G>C	CCDS7768.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.077414	0.55753	.	.	ENSG00000166333	ENST00000299421;ENST00000537806;ENST00000420936;ENST00000528995;ENST00000396751	D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72	5.26	5.26	0.73747	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86703	0.5996	L	0.35341	1.055	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.71870	0.959;0.975	D	0.86696	0.1926	10	0.49607	T	0.09	.	18.1118	0.89538	0.0:0.0:1.0:0.0	.	338;399	B7Z418;Q13418	.;ILK_HUMAN	Q	399;265;399;338;399	ENSP00000299421:E399Q;ENSP00000439606:E265Q;ENSP00000403487:E399Q;ENSP00000435323:E338Q;ENSP00000379975:E399Q	ENSP00000299421:E399Q	E	+	1	0	ILK	6588071	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.873000	0.92357	2.751000	0.94390	0.552000	0.68991	GAG		0.488	ILK-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384519.1	NM_004517		24	30	0	0	0	0	24	30				
MRGPRX2	117194	broad.mit.edu	37	11	19077367	19077367	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr11:19077367A>C	ENST00000329773.2	-	2	670	c.583T>G	c.(583-585)Ttc>Gtc	p.F195V		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	195					positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						AGAACCATGAATAAAAAAATC	0.512																																					GBM(198;1966 2199 4849 37227 49954)	uc001mph.2		NA																	0				ovary(1)	1						c.(583-585)TTC>GTC		MAS-related GPR, member X2							46.0	47.0	47.0					11																	19077367		2199	4293	6492	SO:0001583	missense	117194				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	g.chr11:19077367A>C		CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"""GPCR / Class A : Orphans"""	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.583T>G	11.37:g.19077367A>C	ENSP00000333800:p.Phe195Val						p.F195V	NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN			2	671	-			195			Helical; Name=5; (Potential).		B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Missense_Mutation	SNP	ENST00000329773.2	37	c.583T>G	CCDS7847.1	.	.	.	.	.	.	.	.	.	.	.	15.07	2.723334	0.48728	.	.	ENSG00000183695	ENST00000329773	T	0.35973	1.28	4.99	2.46	0.29980	GPCR, rhodopsin-like superfamily (1);	0.556984	0.17518	N	0.171350	T	0.47746	0.1462	M	0.69823	2.125	0.09310	N	1	D	0.55385	0.971	P	0.57283	0.817	T	0.27297	-1.0078	10	0.27082	T	0.32	.	8.6933	0.34280	0.6988:0.0:0.0:0.3012	.	195	Q96LB1	MRGX2_HUMAN	V	195	ENSP00000333800:F195V	ENSP00000333800:F195V	F	-	1	0	MRGPRX2	19033943	0.865000	0.29922	0.002000	0.10522	0.187000	0.23431	1.127000	0.31357	1.007000	0.39238	0.533000	0.62120	TTC		0.512	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1	NM_054030		18	13	0	0	0	0	18	13				
OR5M9	390162	broad.mit.edu	37	11	56230584	56230584	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr11:56230584C>A	ENST00000279791.1	-	1	293	c.294G>T	c.(292-294)caG>caT	p.Q98H		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	98						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)					AAAAGTAGCACTGCACCAAGC	0.488																																						uc010rjj.1		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(292-294)CAG>CAT		olfactory receptor, family 5, subfamily M,							126.0	119.0	121.0					11																	56230584		2201	4296	6497	SO:0001583	missense	390162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56230584C>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.294G>T	11.37:g.56230584C>A	ENSP00000279791:p.Gln98His						p.Q98H	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN			1	294	-	Esophageal squamous(21;0.00448)		98			Helical; Name=3; (Potential).		Q6IEW5|Q96RB9	Missense_Mutation	SNP	ENST00000279791.1	37	c.294G>T	CCDS31531.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490613	0.44249	.	.	ENSG00000150269	ENST00000279791	T	0.00472	7.19	4.64	-1.08	0.09936	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44285	D	0.000474	T	0.01870	0.0059	H	0.95982	3.75	0.19300	N	0.999973	D	0.89917	1.0	D	0.91635	0.999	T	0.11036	-1.0604	10	0.87932	D	0	-10.3493	9.1218	0.36791	0.0:0.4529:0.0:0.5471	.	98	Q8NGP3	OR5M9_HUMAN	H	98	ENSP00000279791:Q98H	ENSP00000279791:Q98H	Q	-	3	2	OR5M9	55987160	0.000000	0.05858	0.646000	0.29493	0.734000	0.41952	-0.848000	0.04326	-0.418000	0.07450	0.549000	0.68633	CAG		0.488	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743		32	59	1	0	9.65e-13	1.19e-12	32	59				
SLC22A9	114571	broad.mit.edu	37	11	63137735	63137735	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr11:63137735A>T	ENST00000279178.3	+	1	456	c.207A>T	c.(205-207)caA>caT	p.Q69H	SLC22A9_ENST00000310969.4_Missense_Mutation_p.Q69H	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	69					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CCCTCAGCCAAGATGCACTCT	0.527																																						uc001nww.2		NA																	0				breast(2)|large_intestine(1)	3						c.(205-207)CAA>CAT		solute carrier family 22 (organic anion/cation							145.0	135.0	138.0					11																	63137735		2201	4298	6499	SO:0001583	missense	114571				transmembrane transport	integral to membrane		g.chr11:63137735A>T	AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"""Solute carriers"""	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.207A>T	11.37:g.63137735A>T	ENSP00000279178:p.Gln69His					SLC22A9_uc001nwx.2_RNA	p.Q69H	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN			1	475	+			69			Extracellular (Potential).		A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Missense_Mutation	SNP	ENST00000279178.3	37	c.207A>T	CCDS8043.1	.	.	.	.	.	.	.	.	.	.	G	1.916	-0.449582	0.04572	.	.	ENSG00000149742	ENST00000310969;ENST00000279178	T;T	0.37411	1.2;1.2	3.48	-2.17	0.07059	.	2.770090	0.01211	N	0.007832	T	0.43233	0.1238	M	0.88450	2.955	0.09310	N	1	B	0.20671	0.047	B	0.20577	0.03	T	0.32079	-0.9920	10	0.46703	T	0.11	.	3.2576	0.06837	0.2911:0.0:0.3682:0.3408	.	69	Q8IVM8	S22A9_HUMAN	H	69	ENSP00000311527:Q69H;ENSP00000279178:Q69H	ENSP00000279178:Q69H	Q	+	3	2	SLC22A9	62894311	0.000000	0.05858	0.028000	0.17463	0.074000	0.17049	-2.448000	0.01009	-0.209000	0.10156	-1.567000	0.00876	CAA		0.527	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866		26	102	0	0	0	0	26	102				
ACY3	91703	broad.mit.edu	37	11	67412541	67412541	+	Silent	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr11:67412541C>T	ENST00000255082.3	-	6	779	c.609G>A	c.(607-609)ctG>ctA	p.L203L	ACY3_ENST00000529256.1_Silent_p.L82L	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	203	Hydrolytic domain. {ECO:0000250}.				viral process (GO:0016032)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	CGATGAAGTCCAGAACTGTGG	0.617																																					GBM(56;346 1011 27014 29495 46841)	uc001omq.2		NA																	0					0						c.(607-609)CTG>CTA		aspartoacylase 3	L-Aspartic Acid(DB00128)						115.0	127.0	123.0					11																	67412541		2200	4294	6494	SO:0001819	synonymous_variant	91703				interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding	g.chr11:67412541C>T	BC008689	CCDS8175.1	11q13.2	2014-08-08			ENSG00000132744	ENSG00000132744			24104	protein-coding gene	gene with protein product		614413				14656720	Standard	NM_080658		Approved	HCBP1, MGC9740, ACY-3	uc001omq.3	Q96HD9	OTTHUMG00000167283	ENST00000255082.3:c.609G>A	11.37:g.67412541C>T							p.L203L	NM_080658	NP_542389	Q96HD9	ACY3_HUMAN			6	780	-			203						Silent	SNP	ENST00000255082.3	37	c.609G>A	CCDS8175.1																																																																																				0.617	ACY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394002.1	NM_080658		58	116	0	0	0	0	58	116				
Unknown	0	broad.mit.edu	37	11	124096301	124096301	+	IGR	SNP	T	T	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr11:124096301T>A								OR10D3 (39349 upstream) : OR8G1 (24121 downstream)																							GAACCCCCAATCTATAGCCTA	0.418																																						uc010saf.1		NA																	0					0						c.(904-906)TCT>ACT		olfactory receptor, family 8, subfamily G,							68.0	61.0	63.0					11																	124096301		1911	4146	6057	SO:0001628	intergenic_variant	26492					integral to membrane	olfactory receptor activity	g.chr11:124096301T>A																													11.37:g.124096301T>A							p.S302T	NM_001007249	NP_001007250	Q15614	OR8G2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)	1	904	+		Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	302						Missense_Mutation	SNP		37	c.904T>A																																																																																				0	0.418									6	112	0	0	0	0	6	112				
CACNA1C	775	broad.mit.edu	37	12	2760859	2760859	+	Silent	SNP	C	C	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr12:2760859C>A	ENST00000347598.4	+	34	4143	c.4143C>A	c.(4141-4143)gtC>gtA	p.V1381V	CACNA1C_ENST00000399644.1_Silent_p.V1333V|CACNA1C_ENST00000399638.1_Silent_p.V1361V|CACNA1C_ENST00000335762.5_Silent_p.V1358V|CACNA1C_ENST00000399601.1_Silent_p.V1333V|CACNA1C_ENST00000399617.1_Silent_p.V1333V|CACNA1C_ENST00000399606.1_Silent_p.V1353V|CACNA1C_ENST00000406454.3_Silent_p.V1333V|CACNA1C_ENST00000344100.3_Silent_p.V1355V|CACNA1C_ENST00000399655.1_Silent_p.V1333V|CACNA1C_ENST00000399637.1_Silent_p.V1333V|CACNA1C_ENST00000399591.1_Silent_p.V1322V|CACNA1C_ENST00000399595.1_Silent_p.V1322V|CACNA1C_ENST00000402845.3_Silent_p.V1333V|CACNA1C_ENST00000399603.1_Silent_p.V1333V|CACNA1C_ENST00000399629.1_Silent_p.V1350V|CACNA1C_ENST00000399597.1_Silent_p.V1333V|CACNA1C_ENST00000399641.1_Silent_p.V1333V|CACNA1C_ENST00000399649.1_Silent_p.V1320V|CACNA1C_ENST00000327702.7_Silent_p.V1333V|CACNA1C_ENST00000399621.1_Silent_p.V1333V|CACNA1C_ENST00000399634.1_Silent_p.V1333V	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1381					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGTTCCGGGTCATGCGTCTGG	0.617																																						uc009zdu.1		NA																	0				ovary(10)|central_nervous_system(1)	11						c.(4141-4143)GTC>GTA		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						70.0	82.0	78.0					12																	2760859		2201	4299	6500	SO:0001819	synonymous_variant	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2760859C>A	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.4143C>A	12.37:g.2760859C>A						CACNA1C_uc009zdv.1_Silent_p.V1330V|CACNA1C_uc001qkb.2_Silent_p.V1333V|CACNA1C_uc001qkc.2_Silent_p.V1333V|CACNA1C_uc001qke.2_Silent_p.V1322V|CACNA1C_uc001qkf.2_Silent_p.V1322V|CACNA1C_uc001qjz.2_Silent_p.V1333V|CACNA1C_uc001qkd.2_Silent_p.V1333V|CACNA1C_uc001qkg.2_Silent_p.V1320V|CACNA1C_uc009zdw.1_Silent_p.V1355V|CACNA1C_uc001qkh.2_Silent_p.V1322V|CACNA1C_uc001qkl.2_Silent_p.V1381V|CACNA1C_uc001qkn.2_Silent_p.V1333V|CACNA1C_uc001qko.2_Silent_p.V1353V|CACNA1C_uc001qkp.2_Silent_p.V1333V|CACNA1C_uc001qkr.2_Silent_p.V1350V|CACNA1C_uc001qku.2_Silent_p.V1333V|CACNA1C_uc001qkq.2_Silent_p.V1361V|CACNA1C_uc001qks.2_Silent_p.V1333V|CACNA1C_uc001qkt.2_Silent_p.V1333V|CACNA1C_uc001qki.1_Silent_p.V1069V|CACNA1C_uc001qkj.1_Silent_p.V1069V|CACNA1C_uc001qkk.1_Silent_p.V1069V|CACNA1C_uc001qkm.1_Silent_p.V1058V|CACNA1C_uc010sea.1_Silent_p.V24V	p.V1381V	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	34	4456	+			1381			Helical; Name=S4 of repeat IV; (Potential).|IV.		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	c.4143C>A	CCDS44788.1																																																																																				0.617	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		33	57	1	0	3.9e-15	4.91e-15	33	57				
PRMT8	56341	broad.mit.edu	37	12	3686072	3686072	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr12:3686072A>G	ENST00000382622.3	+	7	1138	c.748A>G	c.(748-750)Atc>Gtc	p.I250V	PRMT8_ENST00000452611.2_Missense_Mutation_p.I241V|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	250	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CATGACCTGCATCCGGGACGT	0.572																																						uc001qmf.2		NA																	0		p.I250M(1)		ovary(3)|central_nervous_system(1)|skin(1)	5						c.(748-750)ATC>GTC		HMT1 hnRNP methyltransferase-like 4							286.0	255.0	266.0					12																	3686072		2203	4300	6503	SO:0001583	missense	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3686072A>G	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.748A>G	12.37:g.3686072A>G	ENSP00000372067:p.Ile250Val					PRMT8_uc009zed.2_Missense_Mutation_p.I241V|PRMT8_uc009zee.1_RNA|PRMT8_uc001qmg.2_Missense_Mutation_p.I64V	p.I250V	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		7	1115	+			250					B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	c.748A>G	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	A	13.04	2.118993	0.37436	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.23950	1.88;1.88	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.29355	0.0731	M	0.65498	2.005	0.80722	D	1	B;B	0.17667	0.023;0.003	B;B	0.16289	0.015;0.004	T	0.05767	-1.0865	10	0.46703	T	0.11	.	13.0795	0.59104	1.0:0.0:0.0:0.0	.	241;250	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	V	241;250	ENSP00000414507:I241V;ENSP00000372067:I250V	ENSP00000372067:I250V	I	+	1	0	PRMT8	3556333	1.000000	0.71417	0.986000	0.45419	0.296000	0.27459	9.297000	0.96120	1.978000	0.57642	0.533000	0.62120	ATC		0.572	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		16	264	0	0	0	0	16	264				
A2ML1	144568	broad.mit.edu	37	12	9020506	9020506	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr12:9020506C>G	ENST00000299698.7	+	30	3966	c.3786C>G	c.(3784-3786)atC>atG	p.I1262M	A2ML1_ENST00000539547.1_Missense_Mutation_p.I771M	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CTGAGGAGATCAACCTGGTTG	0.453																																						uc001quz.3		NA																	0				ovary(2)|skin(1)	3						c.(3784-3786)ATC>ATG		alpha-2-macroglobulin-like 1 precursor							129.0	118.0	121.0					12																	9020506		1957	4131	6088	SO:0001583	missense	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:9020506C>G	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.3786C>G	12.37:g.9020506C>G	ENSP00000299698:p.Ile1262Met					A2ML1_uc001qva.1_Missense_Mutation_p.I842M|A2ML1_uc010sgm.1_Missense_Mutation_p.I762M|A2ML1_uc001qvb.1_RNA	p.I1262M	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN			30	3884	+			1106						Missense_Mutation	SNP	ENST00000299698.7	37	c.3786C>G	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	C	1.641	-0.516585	0.04200	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	T;T;T	0.30981	1.51;1.63;2.17	3.63	2.74	0.32292	.	0.405202	0.20059	N	0.100134	T	0.22781	0.0550	L	0.40543	1.245	0.09310	N	1	B	0.30406	0.278	B	0.33392	0.163	T	0.16041	-1.0416	10	0.52906	T	0.07	.	4.7948	0.13267	0.3102:0.5812:0.0:0.1086	.	1262	A8K2U0	A2ML1_HUMAN	M	1262;1262;812;771	ENSP00000299698:I1262M;ENSP00000443174:I812M;ENSP00000438292:I771M	ENSP00000299698:I1262M	I	+	3	3	A2ML1	8911773	0.000000	0.05858	0.053000	0.19242	0.071000	0.16799	-0.054000	0.11826	1.099000	0.41499	0.561000	0.74099	ATC		0.453	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		33	44	0	0	0	0	33	44				
KIAA1467	57613	broad.mit.edu	37	12	13238169	13238169	+	IGR	SNP	C	C	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr12:13238169C>A	ENST00000197268.8	+	0	4808				GSG1_ENST00000537302.1_Missense_Mutation_p.W188L|GSG1_ENST00000432710.2_Missense_Mutation_p.W229L|GSG1_ENST00000396302.3_Silent_p.L257L|GSG1_ENST00000351606.6_Silent_p.L293L|GSG1_ENST00000457134.2_Missense_Mutation_p.W165L|GSG1_ENST00000337630.6_Missense_Mutation_p.W216L|GSG1_ENST00000324458.8_Missense_Mutation_p.W252L|GSG1_ENST00000396310.2_Missense_Mutation_p.W185L	NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467							integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		GAAGGAGAGCCAGGCCATGCT	0.483																																						uc001rbn.2		NA																	0					0						c.(754-756)TGG>TTG		germ cell associated 1 isoform 4							71.0	51.0	58.0					12																	13238169		2203	4300	6503	SO:0001628	intergenic_variant	83445					endoplasmic reticulum membrane|integral to membrane		g.chr12:13238169C>A	AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67			12.37:g.13238169C>A						GSG1_uc001rbj.2_Missense_Mutation_p.W216L|GSG1_uc001rbk.2_Silent_p.L257L|GSG1_uc001rbl.2_Missense_Mutation_p.W188L|GSG1_uc001rbm.2_Missense_Mutation_p.W165L|GSG1_uc001rbo.2_Silent_p.L293L|GSG1_uc001rbp.2_Missense_Mutation_p.W229L|GSG1_uc001rbq.1_Silent_p.L293L	p.W252L	NM_001080555	NP_001074024	Q2KHT4	GSG1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.15)	7	928	-		Prostate(47;0.183)	239			Helical; (Potential).		Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	ENST00000197268.8	37	c.755G>T	CCDS31750.1	.	.	.	.	.	.	.	.	.	.	C	32	5.127839	0.94473	.	.	ENSG00000111305	ENST00000337630;ENST00000324458;ENST00000396310;ENST00000457134;ENST00000432710;ENST00000537302	T;T;T;T;T;T	0.70045	-0.36;-0.45;0.76;-0.42;-0.43;0.75	5.66	5.66	0.87406	.	0.806027	0.11440	N	0.563898	D	0.85725	0.5763	M	0.88181	2.935	0.80722	D	1	D;D;D;D;D	0.69078	0.997;0.997;0.997;0.997;0.991	D;D;D;D;D	0.65773	0.933;0.928;0.935;0.935;0.938	D	0.85489	0.1184	10	0.66056	D	0.02	.	19.7398	0.96223	0.0:1.0:0.0:0.0	.	229;239;165;188;216	Q2KHT4-6;Q2KHT4;Q2KHT4-5;Q2KHT4-2;F1T0A1	.;GSG1_HUMAN;.;.;.	L	216;252;185;165;229;188	ENSP00000336816:W216L;ENSP00000320838:W252L;ENSP00000379604:W185L;ENSP00000398384:W165L;ENSP00000405032:W229L;ENSP00000441718:W188L	ENSP00000320838:W252L	W	-	2	0	GSG1	13129436	1.000000	0.71417	0.987000	0.45799	0.961000	0.63080	6.026000	0.70873	2.665000	0.90641	0.561000	0.74099	TGG		0.483	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	NM_020853		13	35	1	0	2.27e-07	2.68e-07	13	35				
CERS5	91012	broad.mit.edu	37	12	50535844	50535844	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr12:50535844G>A	ENST00000317551.6	-	4	608	c.484C>T	c.(484-486)Ctc>Ttc	p.L162F	CERS5_ENST00000422340.2_Missense_Mutation_p.L104F	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN	ceramide synthase 5	162	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										ACCGACCAGAGAAATCTAATT	0.368																																						uc001rwd.3		NA																	0					0						c.(484-486)CTC>TTC		LAG1 homolog, ceramide synthase 5							58.0	58.0	58.0					12																	50535844		2203	4300	6503	SO:0001583	missense	91012				ceramide biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr12:50535844G>A		CCDS8801.1, CCDS61120.1	12q13.12	2014-09-04	2011-07-08	2011-07-08	ENSG00000139624			"""Homeoboxes / CERS class"""	23749	protein-coding gene	gene with protein product		615335	"""LAG1 longevity assurance homolog 5 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 5"""	LASS5			Standard	NM_147190		Approved	Trh4, MGC45411, FLJ25304	uc001rwd.4	Q8N5B7	OTTHUMG00000169819	ENST00000317551.6:c.484C>T	12.37:g.50535844G>A	ENSP00000325485:p.Leu162Phe					LASS5_uc001rwc.2_Missense_Mutation_p.L81F|LASS5_uc001rwe.3_Missense_Mutation_p.L103F|LASS5_uc001rwf.3_Intron|LASS5_uc010smq.1_Missense_Mutation_p.L18F	p.L162F	NM_147190	NP_671723	Q8N5B7	CERS5_HUMAN			4	501	-			162			TLC.|Helical; (Potential).		B4DV54	Missense_Mutation	SNP	ENST00000317551.6	37	c.484C>T	CCDS8801.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.567837	0.65651	.	.	ENSG00000139624	ENST00000551005;ENST00000317551;ENST00000422340	D;D;D	0.86769	-2.17;-2.17;-2.17	4.04	3.12	0.35913	TRAM/LAG1/CLN8 homology domain (3);	0.068399	0.64402	D	0.000014	D	0.93423	0.7902	M	0.87547	2.89	0.80722	D	1	D;D;D	0.89917	1.0;0.995;1.0	D;D;D	0.81914	0.993;0.927;0.995	D	0.93911	0.7197	10	0.66056	D	0.02	-10.6532	13.1307	0.59380	0.0:0.0:0.8387:0.1613	.	104;162;81	B4DV54;Q8N5B7;F8W0U5	.;CERS5_HUMAN;.	F	81;162;104	ENSP00000447556:L81F;ENSP00000325485:L162F;ENSP00000389050:L104F	ENSP00000325485:L162F	L	-	1	0	CERS5	48822111	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.302000	0.51849	1.010000	0.39314	0.650000	0.86243	CTC		0.368	CERS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406069.3	NM_147190		11	15	0	0	0	0	11	15				
POU6F1	5463	broad.mit.edu	37	12	51590624	51590624	+	Start_Codon_SNP	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr12:51590624C>T	ENST00000389243.4	-	7	942	c.3G>A	c.(1-3)atG>atA	p.M1I	POU6F1_ENST00000333640.10_Start_Codon_SNP_p.M1I|POU6F1_ENST00000550824.1_Start_Codon_SNP_p.M1I			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	1	Gln/Pro-rich.				brain development (GO:0007420)|heart development (GO:0007507)|muscle organ development (GO:0007517)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						TGATCCCTGGCATGCTGGGAA	0.612																																						uc001rxy.2		NA																	0				ovary(1)	1						c.(1-3)ATG>ATA		POU class 6 homeobox 1							135.0	111.0	119.0					12																	51590624		2203	4300	6503	SO:0001582	initiator_codon_variant	5463				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr12:51590624C>T	AL832881	CCDS31803.1	12q13.13	2011-06-20	2007-07-13			ENSG00000184271		"""Homeoboxes / POU class"""	9224	protein-coding gene	gene with protein product			"""POU domain, class 6, transcription factor 1"""			7908264	Standard	NM_002702		Approved	BRN5, MPOU, TCFB1	uc001rxz.3	Q14863		ENST00000389243.4:c.3G>A	12.37:g.51590624C>T	ENSP00000373895:p.Met1Ile					POU6F1_uc001rxz.2_Missense_Mutation_p.M1I|POU6F1_uc001rya.2_Missense_Mutation_p.M1I	p.M1I	NM_002702	NP_002693	Q14863	PO6F1_HUMAN			1	195	-			1			Gln/Pro-rich.		Q15944|Q6DK47|Q7Z7P6	Missense_Mutation	SNP	ENST00000389243.4	37	c.3G>A	CCDS31803.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.406831	0.62399	.	.	ENSG00000184271	ENST00000389243;ENST00000333640;ENST00000550824;ENST00000547855	D;D;D	0.84800	-1.9;-1.9;-1.9	5.88	5.88	0.94601	.	2.046070	0.02116	N	0.055178	T	0.82102	0.4964	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.64647	-0.6358	9	0.66056	D	0.02	.	8.6631	0.34103	0.0:0.7674:0.1536:0.079	.	1	Q14863	PO6F1_HUMAN	I	1	ENSP00000373895:M1I;ENSP00000330190:M1I;ENSP00000448389:M1I	ENSP00000330190:M1I	M	-	3	0	POU6F1	49876891	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.883000	0.48554	2.804000	0.96469	0.650000	0.86243	ATG		0.612	POU6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405126.1	NM_002702	Missense_Mutation	6	84	0	0	0	0	6	84				
MAP3K12	7786	broad.mit.edu	37	12	53878059	53878059	+	Silent	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr12:53878059C>T	ENST00000267079.2	-	8	1356	c.1131G>A	c.(1129-1131)gaG>gaA	p.E377E	MAP3K12_ENST00000547035.1_Silent_p.E410E|MAP3K12_ENST00000547488.1_Silent_p.E410E|MAP3K12_ENST00000547151.1_5'Flank	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	377					histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						TAAAGTAAGTCTCCTGGGGTG	0.488																																						uc001sdm.1		NA																	0				lung(2)|ovary(1)|breast(1)|skin(1)	5						c.(1129-1131)GAG>GAA		mitogen-activated protein kinase kinase kinase							112.0	82.0	92.0					12																	53878059		2203	4300	6503	SO:0001819	synonymous_variant	7786				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53878059C>T	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.1131G>A	12.37:g.53878059C>T						MAP3K12_uc001sdn.1_Silent_p.E410E	p.E377E	NM_006301	NP_006292	Q12852	M3K12_HUMAN			8	1229	-			377					B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Silent	SNP	ENST00000267079.2	37	c.1131G>A	CCDS8860.1																																																																																				0.488	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		11	31	0	0	0	0	11	31				
EEA1	8411	broad.mit.edu	37	12	93196253	93196253	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr12:93196253G>C	ENST00000322349.8	-	19	2861	c.2597C>G	c.(2596-2598)tCt>tGt	p.S866C		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	866					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						CAAAGAATCAGAAACTTTTGA	0.308																																						uc001tck.2		NA																	0				ovary(2)|skin(1)	3						c.(2596-2598)TCT>TGT		early endosome antigen 1, 162kD							76.0	72.0	73.0					12																	93196253		2202	4299	6501	SO:0001583	missense	8411				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding	g.chr12:93196253G>C	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.2597C>G	12.37:g.93196253G>C	ENSP00000317955:p.Ser866Cys						p.S866C	NM_003566	NP_003557	Q15075	EEA1_HUMAN			19	2862	-			866			Potential.		Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	c.2597C>G	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.993334	0.54041	.	.	ENSG00000102189	ENST00000322349	T	0.79141	-1.24	5.7	5.7	0.88788	.	0.000000	0.52532	D	0.000078	T	0.79701	0.4491	L	0.32530	0.975	0.45076	D	0.998094	D	0.69078	0.997	P	0.57283	0.817	T	0.81286	-0.1001	10	0.66056	D	0.02	.	15.3274	0.74176	0.0:0.1392:0.8608:0.0	.	866	Q15075	EEA1_HUMAN	C	866	ENSP00000317955:S866C	ENSP00000317955:S866C	S	-	2	0	EEA1	91720384	1.000000	0.71417	1.000000	0.80357	0.319000	0.28217	3.804000	0.55568	2.689000	0.91719	0.491000	0.48974	TCT		0.308	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		8	16	0	0	0	0	8	16				
GNPTAB	79158	broad.mit.edu	37	12	102155370	102155370	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr12:102155370G>C	ENST00000299314.7	-	14	3149	c.2887C>G	c.(2887-2889)Cgg>Ggg	p.R963G		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	963					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						ATAACAATCCGGTCAATCATG	0.388																																						uc001tit.2		NA																	0				ovary(1)|skin(1)	2						c.(2887-2889)CGG>GGG		N-acetylglucosamine-1-phosphate transferase							135.0	122.0	126.0					12																	102155370		2203	4300	6503	SO:0001583	missense	79158				cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	g.chr12:102155370G>C	AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.2887C>G	12.37:g.102155370G>C	ENSP00000299314:p.Arg963Gly						p.R963G	NM_024312	NP_077288	Q3T906	GNPTA_HUMAN			14	3066	-			963					A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	ENST00000299314.7	37	c.2887C>G	CCDS9088.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003272	0.74932	.	.	ENSG00000111670	ENST00000299314	D	0.92647	-3.08	5.86	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.95853	0.8650	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96087	0.9058	10	0.62326	D	0.03	-15.8615	15.8817	0.79208	0.0:0.0:0.8596:0.1404	.	963	Q3T906	GNPTA_HUMAN	G	963	ENSP00000299314:R963G	ENSP00000299314:R963G	R	-	1	2	GNPTAB	100679501	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	6.039000	0.70972	1.417000	0.47077	0.655000	0.94253	CGG		0.388	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			24	38	0	0	0	0	24	38				
SLC41A2	84102	broad.mit.edu	37	12	105282861	105282861	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr12:105282861A>T	ENST00000258538.3	-	4	957	c.830T>A	c.(829-831)cTt>cAt	p.L277H		NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	277					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						AGAGCACAGAAGTATGGAATG	0.398																																					Esophageal Squamous(195;176 2919 4272 35572)	uc001tla.2		NA																	0				ovary(1)|skin(1)	2						c.(829-831)CTT>CAT		solute carrier family 41, member 2							104.0	102.0	103.0					12																	105282861		2203	4300	6503	SO:0001583	missense	84102					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity	g.chr12:105282861A>T	BC036734	CCDS9100.2	12q24.11	2013-07-17	2013-07-17		ENSG00000136052	ENSG00000136052		"""Solute carriers"""	31045	protein-coding gene	gene with protein product		610802	"""solute carrier family 41, member 2"""				Standard	NM_032148		Approved	DKFZP434K0427	uc001tla.3	Q96JW4	OTTHUMG00000156965	ENST00000258538.3:c.830T>A	12.37:g.105282861A>T	ENSP00000258538:p.Leu277His						p.L277H	NM_032148	NP_115524	Q96JW4	S41A2_HUMAN			4	997	-			277			Cytoplasmic.		Q3KP68|Q9H0E5	Missense_Mutation	SNP	ENST00000258538.3	37	c.830T>A	CCDS9100.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.8|21.8	4.204110|4.204110	0.79127|0.79127	.|.	.|.	ENSG00000136052|ENSG00000136052	ENST00000437220|ENST00000258538	.|T	.|0.33865	.|1.39	5.55|5.55	5.55|5.55	0.83447|0.83447	.|MgtE magnesium transporter, integral membrane (1);	.|0.131866	.|0.51477	.|D	.|0.000085	T|T	0.64757|0.64757	0.2627|0.2627	M|M	0.85373|0.85373	2.75|2.75	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.77004	.|0.989	T|T	0.71140|0.71140	-0.4679|-0.4679	5|10	.|0.72032	.|D	.|0.01	-17.0811|-17.0811	15.6783|15.6783	0.77344|0.77344	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|277	.|Q96JW4	.|S41A2_HUMAN	I|H	133|277	.|ENSP00000258538:L277H	.|ENSP00000258538:L277H	F|L	-|-	1|2	0|0	SLC41A2|SLC41A2	103806991|103806991	1.000000|1.000000	0.71417|0.71417	0.577000|0.577000	0.28562|0.28562	0.869000|0.869000	0.49853|0.49853	8.729000|8.729000	0.91490|0.91490	2.111000|2.111000	0.64477|0.64477	0.482000|0.482000	0.46254|0.46254	TTC|CTT		0.398	SLC41A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346850.3	NM_032148		18	43	0	0	0	0	18	43				
RNF10	9921	broad.mit.edu	37	12	121013686	121013686	+	Silent	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr12:121013686C>T	ENST00000325954.4	+	16	2753	c.2292C>T	c.(2290-2292)tcC>tcT	p.S764S	RNF10_ENST00000413266.2_Silent_p.S769S|RNF10_ENST00000542701.1_3'UTR	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	764					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCAAAATTCCTTCAGCCAAG	0.507																																						uc001typ.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(2290-2292)TCC>TCT		ring finger protein 10							182.0	185.0	184.0					12																	121013686		2203	4300	6503	SO:0001819	synonymous_variant	9921				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:121013686C>T	AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"""RING-type (C3HC4) zinc fingers"""	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.2292C>T	12.37:g.121013686C>T						RNF10_uc010szk.1_RNA|RNF10_uc001tyq.3_Silent_p.S675S	p.S764S	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN			16	2775	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		764					Q92550|Q9NPP8|Q9ULW4	Silent	SNP	ENST00000325954.4	37	c.2292C>T	CCDS9201.1																																																																																				0.507	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4			93	136	0	0	0	0	93	136				
TMEM120B	144404	broad.mit.edu	37	12	122181639	122181639	+	Silent	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr12:122181639G>A	ENST00000449592.2	+	2	275	c.174G>A	c.(172-174)aaG>aaA	p.K58K		NM_001080825.2	NP_001074294.2	A0PK00	T120B_HUMAN	transmembrane protein 120B	58						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		AGGACTTGAAGCTTACACTCC	0.547																																						uc001ubc.3		NA																	0					0						c.(172-174)AAG>AAA		transmembrane protein 120B							53.0	57.0	56.0					12																	122181639		1971	4161	6132	SO:0001819	synonymous_variant	144404					integral to membrane		g.chr12:122181639G>A	BC127768	CCDS41852.1	12q24.31	2007-08-01			ENSG00000188735	ENSG00000188735			32008	protein-coding gene	gene with protein product							Standard	NM_001080825		Approved		uc001ubc.4	A0PK00	OTTHUMG00000169076	ENST00000449592.2:c.174G>A	12.37:g.122181639G>A						TMEM120B_uc009zxh.2_Silent_p.K58K	p.K58K	NM_001080825	NP_001074294	A0PK00	T120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)	2	318	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		58			Potential.		A0PK01|B3KX33	Silent	SNP	ENST00000449592.2	37	c.174G>A	CCDS41852.1																																																																																				0.547	TMEM120B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402158.1	NM_001080825		32	43	0	0	0	0	32	43				
SBNO1	55206	broad.mit.edu	37	12	123782584	123782584	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr12:123782584C>T	ENST00000602398.1	-	31	4107	c.3980G>A	c.(3979-3981)gGc>gAc	p.G1327D	SBNO1_ENST00000267176.4_Missense_Mutation_p.G1326D|SBNO1_ENST00000602750.1_Missense_Mutation_p.G1326D|SBNO1_ENST00000420886.2_Missense_Mutation_p.G1327D			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1327					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CACGTTTGTGCCACTGACAGA	0.428																																						uc010tap.1		NA																	0				breast(5)|skin(2)|ovary(1)|kidney(1)	9						c.(3979-3981)GGC>GAC		sno, strawberry notch homolog 1							215.0	186.0	196.0					12																	123782584		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123782584C>T	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.3980G>A	12.37:g.123782584C>T	ENSP00000473665:p.Gly1327Asp					SBNO1_uc009zxv.2_RNA|SBNO1_uc010tao.1_Missense_Mutation_p.G1326D|SBNO1_uc010taq.1_Missense_Mutation_p.G278D	p.G1327D	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	30	3980	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1327					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.3980G>A	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.955457	0.92726	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	D;D	0.81739	-1.53;-1.53	5.63	5.63	0.86233	.	0.057330	0.64402	D	0.000001	D	0.89382	0.6699	M	0.75085	2.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	D	0.85568	0.1232	10	0.23302	T	0.38	-3.4964	20.1116	0.97914	0.0:1.0:0.0:0.0	.	1327;1326	A3KN83;A3KN83-2	SBNO1_HUMAN;.	D	1327;1326	ENSP00000387361:G1327D;ENSP00000267176:G1326D	ENSP00000267176:G1326D	G	-	2	0	SBNO1	122348537	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.729000	0.84864	2.833000	0.97629	0.650000	0.86243	GGC		0.428	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		5	108	0	0	0	0	5	108				
DNAH10	196385	broad.mit.edu	37	12	124377980	124377980	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr12:124377980C>T	ENST00000409039.3	+	52	8867	c.8842C>T	c.(8842-8844)Cca>Tca	p.P2948S		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2948	AAA 4. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAGAAACTTCCCAGGTACCCG	0.572																																						uc001uft.3		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(8842-8844)CCA>TCA		dynein, axonemal, heavy chain 10							45.0	48.0	47.0					12																	124377980		1970	4162	6132	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124377980C>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.8842C>T	12.37:g.124377980C>T	ENSP00000386770:p.Pro2948Ser						p.P2948S	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	52	8867	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		2948			AAA 4 (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.8842C>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930338	0.92389	.	.	ENSG00000197653	ENST00000409039	T	0.58210	0.35	4.7	4.7	0.59300	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.64402	U	0.000001	T	0.80031	0.4549	H	0.94658	3.565	0.80722	D	1	D	0.71674	0.998	D	0.69479	0.964	D	0.86020	0.1506	10	0.72032	D	0.01	.	18.1884	0.89799	0.0:1.0:0.0:0.0	.	2948	Q8IVF4	DYH10_HUMAN	S	2948	ENSP00000386770:P2948S	ENSP00000386770:P2948S	P	+	1	0	DNAH10	122943933	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.548000	0.82154	2.621000	0.88768	0.561000	0.74099	CCA		0.572	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			30	55	0	0	0	0	30	55				
USP12	219333	broad.mit.edu	37	13	27649390	27649390	+	Silent	SNP	T	T	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr13:27649390T>C	ENST00000282344.6	-	7	1126	c.870A>G	c.(868-870)tcA>tcG	p.S290S		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	290	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		TGGCATCACCTGAAGTGTTAA	0.408																																					Ovarian(37;808 911 7590 44442 44991)	uc001uqy.2		NA																	0				lung(1)	1						c.(868-870)TCA>TCG		ubiquitin thiolesterase 12							101.0	90.0	94.0					13																	27649390		2203	4300	6503	SO:0001819	synonymous_variant	219333				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr13:27649390T>C	AL049221	CCDS31952.1	13q12.13	2010-05-12	2005-08-08	2003-10-08	ENSG00000152484	ENSG00000152484		"""Ubiquitin-specific peptidases"""	20485	protein-coding gene	gene with protein product			"""ubiquitin specific protease 12 like 1"", ""ubiquitin specific protease 12"""	USP12L1		12838346	Standard	NM_182488		Approved		uc001uqy.3	O75317	OTTHUMG00000016626	ENST00000282344.6:c.870A>G	13.37:g.27649390T>C							p.S290S	NM_182488	NP_872294	O75317	UBP12_HUMAN		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)	7	1123	-		Lung SC(185;0.0161)	290					A8K0X0|Q5VZV3|Q8TC49	Silent	SNP	ENST00000282344.6	37	c.870A>G	CCDS31952.1																																																																																				0.408	USP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044264.1	NM_182488		17	48	0	0	0	0	17	48				
POSTN	10631	broad.mit.edu	37	13	38160349	38160349	+	Silent	SNP	G	G	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr13:38160349G>T	ENST00000379747.4	-	7	939	c.822C>A	c.(820-822)ccC>ccA	p.P274P	POSTN_ENST00000379743.4_Silent_p.P274P|POSTN_ENST00000541179.1_Silent_p.P274P|POSTN_ENST00000541481.1_Silent_p.P274P|POSTN_ENST00000379742.4_Silent_p.P274P|POSTN_ENST00000379749.4_Silent_p.P274P	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	274	FAS1 2. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CCTCATTGGTGGGAGCAAAGA	0.468																																						uc001uwo.3		NA																	0				ovary(2)	2						c.(820-822)CCC>CCA		periostin, osteoblast specific factor isoform 1							114.0	101.0	106.0					13																	38160349		2203	4300	6503	SO:0001819	synonymous_variant	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38160349G>T	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.822C>A	13.37:g.38160349G>T						POSTN_uc001uwp.3_Silent_p.P274P|POSTN_uc001uwr.2_Silent_p.P274P|POSTN_uc001uwq.2_Silent_p.P274P|POSTN_uc010teu.1_Silent_p.P274P|POSTN_uc010tev.1_Silent_p.P274P|POSTN_uc010tew.1_Silent_p.P274P|POSTN_uc010tex.1_Silent_p.P189P	p.P274P	NM_006475	NP_006466	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	7	940	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	274			FAS1 2.		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Silent	SNP	ENST00000379747.4	37	c.822C>A	CCDS9364.1																																																																																				0.468	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		19	54	1	0	8.28e-16	1.05e-15	19	54				
PROSER1	80209	broad.mit.edu	37	13	39588614	39588614	+	Splice_Site	SNP	C	C	G			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr13:39588614C>G	ENST00000352251.3	-	11	1609		c.e11-1		PROSER1_ENST00000484434.3_Intron|PROSER1_ENST00000350125.3_Splice_Site	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1																		GTGGAAAATGCTATATGGAAG	0.388																																						uc001uwy.2		NA																	0				ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)	5						c.e11-1		hypothetical protein LOC80209 isoform 1							57.0	53.0	54.0					13																	39588614		2203	4299	6502	SO:0001630	splice_region_variant	80209							g.chr13:39588614C>G	AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 23"""	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.776-1G>C	13.37:g.39588614C>G						C13orf23_uc001uwz.2_Splice_Site_p.T237_splice	p.T259_splice	NM_025138	NP_079414	Q86XN7	CM023_HUMAN		all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146)	11	1649	-		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)						A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Splice_Site	SNP	ENST00000352251.3	37	c.776_splice	CCDS9368.2	.	.	.	.	.	.	.	.	.	.	C	12.46	1.943693	0.34283	.	.	ENSG00000120685	ENST00000352251;ENST00000350125	.	.	.	5.09	4.25	0.50352	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8536	0.46784	0.0:0.9121:0.0:0.0879	.	.	.	.	.	-1	.	.	.	-	.	.	PROSER1	38486614	1.000000	0.71417	0.134000	0.22075	0.596000	0.36781	4.763000	0.62257	1.141000	0.42275	0.650000	0.86243	.		0.388	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5	NM_025138	Intron	8	23	0	0	0	0	8	23				
NAA16	79612	broad.mit.edu	37	13	41891057	41891057	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr13:41891057G>T	ENST00000379406.3	+	2	454	c.130G>T	c.(130-132)Gaa>Taa	p.E44*	NAA16_ENST00000403412.3_Nonsense_Mutation_p.E44*|NAA16_ENST00000379367.3_Nonsense_Mutation_p.E44*	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	44					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						AAAATTTGCTGAACATGGAGG	0.368																																						uc001uyf.2		NA																	0				central_nervous_system(1)	1						c.(130-132)GAA>TAA		NMDA receptor regulated 1-like protein isoform							99.0	102.0	101.0					13																	41891057		2203	4300	6503	SO:0001587	stop_gained	79612				N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding	g.chr13:41891057G>T	AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"""N(alpha)-acetyltransferase subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	26164	protein-coding gene	gene with protein product			"""NMDA receptor regulated 1-like"""	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.130G>T	13.37:g.41891057G>T	ENSP00000368716:p.Glu44*					NAA16_uc010tfg.1_RNA|NAA16_uc001uye.3_Nonsense_Mutation_p.E44*|NAA16_uc001uyd.3_Nonsense_Mutation_p.E44*	p.E44*	NM_024561	NP_078837	Q6N069	NAA16_HUMAN			2	454	+			44					B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Nonsense_Mutation	SNP	ENST00000379406.3	37	c.130G>T	CCDS9379.1	.	.	.	.	.	.	.	.	.	.	G	39	7.740161	0.98462	.	.	ENSG00000172766	ENST00000379367;ENST00000379406;ENST00000403412	.	.	.	4.86	4.86	0.63082	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-16.2063	18.1532	0.89682	0.0:0.0:1.0:0.0	.	.	.	.	X	44	.	ENSP00000368674:E44X	E	+	1	0	NAA16	40789057	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.094000	0.71431	2.507000	0.84556	0.655000	0.94253	GAA		0.368	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044672.2	NM_018527		8	18	1	0	7.48e-07	8.77e-07	8	18				
CDC16	8881	broad.mit.edu	37	13	115002175	115002175	+	Splice_Site	SNP	G	G	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr13:115002175G>T	ENST00000356221.3	+	2	211		c.e2+1		CDC16_ENST00000252457.5_Splice_Site|CDC16_ENST00000360383.3_Splice_Site|CDC16_ENST00000252458.6_Splice_Site|CDC16_ENST00000375310.1_Splice_Site|CDC16_ENST00000375308.1_Splice_Site|CDC16_ENST00000375312.3_Splice_Site			Q13042	CDC16_HUMAN	cell division cycle 16						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|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 K11-linked ubiquitination (GO:0070979)|regulation of mitosis (GO:0007088)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|spindle (GO:0005819)				endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			CTCTCTCGTGGTAAGTGACAA	0.358																																						uc001vuk.1		NA																	0					0						c.e2+1		anaphase-promoting complex, subunit 6							122.0	127.0	125.0					13																	115002175		2203	4300	6503	SO:0001630	splice_region_variant	8881				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding	g.chr13:115002175G>T	U18291	CCDS9542.2	13q34	2013-01-17	2013-01-17		ENSG00000130177	ENSG00000130177		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1720	protein-coding gene	gene with protein product	"""anaphase-promoting complex, subunit 6"""	603461	"""CDC16 (cell division cycle 16, S. cerevisiae, homolog)"", ""CDC16 cell division cycle 16 homolog (S. cerevisiae)"", ""cell division cycle 16 homolog (S. cerevisiae)"""			7736578	Standard	NM_001078645		Approved	APC6, ANAPC6, CUT9	uc001vul.1	Q13042	OTTHUMG00000017402	ENST00000356221.3:c.103+1G>T	13.37:g.115002175G>T						CDC16_uc010tkm.1_Splice_Site_p.E35_splice|CDC16_uc001vul.1_Splice_Site_p.E35_splice|CDC16_uc001vum.1_Splice_Site|CDC16_uc001vun.1_Splice_Site_p.E35_splice|CDC16_uc001vuo.1_Splice_Site_p.E35_splice	p.E35_splice	NM_003903	NP_003894	Q13042	CDC16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.0886)		2	301	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)						A2A365|Q5T8C8|Q96AE6|Q9Y564	Splice_Site	SNP	ENST00000356221.3	37	c.103_splice	CCDS9542.2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985207	0.74474	.	.	ENSG00000130177	ENST00000360383;ENST00000356221;ENST00000252457	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9118	0.92489	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDC16	114020277	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	8.536000	0.90627	2.709000	0.92574	0.561000	0.74099	.		0.358	CDC16-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276737.1	NM_003903	Intron	21	50	1	0	3.88e-16	4.93e-16	21	50				
BCL2L2	599	broad.mit.edu	37	14	23777304	23777304	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr14:23777304A>C	ENST00000250405.5	+	3	557	c.328A>C	c.(328-330)Agt>Cgt	p.S110R	BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.S110R|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.S110R	NM_001199839.1|NM_004050.4	NP_001186768.1|NP_004041	Q92843	B2CL2_HUMAN	BCL2-like 2	110					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|Sertoli cell proliferation (GO:0060011)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|lung(4)|prostate(1)	6	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00654)		GTGTGCTGAGAGTGTCAACAA	0.582																																						uc001wjh.3		NA																	0				ovary(2)	2						c.(328-330)AGT>CGT		poly(A) binding protein, nuclear 1							56.0	61.0	60.0					14																	23777304		2203	4300	6503	SO:0001583	missense	8106				modification by virus of host mRNA processing|mRNA 3'-end processing|muscle contraction|nuclear mRNA splicing, via spliceosome|poly(A)+ mRNA export from nucleus|termination of RNA polymerase II transcription|viral infectious cycle	cytoplasm|nucleoplasm|ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding	g.chr14:23777304A>C	D87461	CCDS9591.1	14q11.2-q12	2014-03-07			ENSG00000129473	ENSG00000129473		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	995	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 51"""	601931				8761287	Standard	NM_001199839		Approved	KIAA0271, BCL-W, PPP1R51		Q92843	OTTHUMG00000028738	ENST00000250405.5:c.328A>C	14.37:g.23777304A>C	ENSP00000250405:p.Ser110Arg					BCL2L2_uc001wjg.3_Missense_Mutation_p.S110R|BCL2L2_uc001wji.3_Missense_Mutation_p.S110R	p.S110R	NM_004643	NP_004634	Q86U42	PABP2_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	3	516	+	all_cancers(95;6.69e-06)		Error:Variant_position_missing_in_Q86U42_after_alignment					A8K0F4|Q2M3U0|Q5U0H4	Missense_Mutation	SNP	ENST00000250405.5	37	c.328A>C	CCDS9591.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.22|18.22	3.575888|3.575888	0.65878|0.65878	.|.	.|.	ENSG00000129473|ENSG00000129473;ENSG00000129473;ENSG00000129473;ENSG00000258643;ENSG00000258643;ENSG00000258643	ENST00000556599|ENST00000250405;ENST00000557236;ENST00000557579;ENST00000553781;ENST00000556100;ENST00000557008	T|T;T;T;T;T;T	0.11930|0.11604	2.73|2.76;2.76;2.76;2.76;2.76;2.76	5.74|5.74	5.74|5.74	0.90152|0.90152	.|Apoptosis regulator, Bcl2-like (1);Apoptosis regulator, Bcl-2, BH (3);	.|0.073823	.|0.53938	.|D	.|0.000043	T|T	0.30386|0.30386	0.0763|0.0763	M|M	0.62723|0.62723	1.935|1.935	0.42258|0.42258	D|D	0.992004|0.992004	.|D;D	.|0.71674	.|0.993;0.998	.|P;D	.|0.76575	.|0.695;0.988	T|T	0.01824|0.01824	-1.1266|-1.1266	6|10	.|0.87932	.|D	.|0	-0.0543|-0.0543	13.9889|13.9889	0.64353|0.64353	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|110;110	.|G3V5R7;Q92843	.|.;B2CL2_HUMAN	A|R	52|110	ENSP00000451197:E52A|ENSP00000250405:S110R;ENSP00000451701:S110R;ENSP00000452265:S110R;ENSP00000451320:S110R;ENSP00000450916:S110R;ENSP00000452479:S110R	.|ENSP00000250405:S110R	E|S	+|+	2|1	0|0	BCL2L2|RP11-124D2.2;BCL2L2	22847144|22847144	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	5.685000|5.685000	0.68204|0.68204	2.183000|2.183000	0.69458|0.69458	0.533000|0.533000	0.62120|0.62120	GAG|AGT		0.582	BCL2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071763.3	NM_004050		39	50	0	0	0	0	39	50				
NYNRIN	57523	broad.mit.edu	37	14	24880367	24880367	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr14:24880367G>T	ENST00000382554.3	+	5	2818	c.2500G>T	c.(2500-2502)Gtg>Ttg	p.V834L		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	834					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AGAGGTCACTGTGTTTGTACC	0.592											OREG0022626	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001wpf.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2500-2502)GTG>TTG		hypothetical protein LOC57523							107.0	117.0	114.0					14																	24880367		2068	4222	6290	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24880367G>T	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.2500G>T	14.37:g.24880367G>T	ENSP00000371994:p.Val834Leu		OREG0022626	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	774		p.V834L	NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN			5	2818	+			834					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.2500G>T	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025584	0.93518	.	.	ENSG00000205978	ENST00000382554	T	0.52295	0.67	5.02	5.02	0.67125	Ribonuclease Zc3h12a-like (1);	.	.	.	.	T	0.69196	0.3084	M	0.77616	2.38	0.43846	D	0.996431	D	0.60160	0.987	D	0.72982	0.979	T	0.73254	-0.4041	9	0.87932	D	0	.	15.882	0.79211	0.0:0.0:1.0:0.0	.	834	Q9P2P1	NYNRI_HUMAN	L	834	ENSP00000371994:V834L	ENSP00000371994:V834L	V	+	1	0	NYNRIN	23950207	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.470000	0.90399	2.603000	0.88011	0.467000	0.42956	GTG		0.592	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			53	65	1	0	3.77e-38	4.93e-38	53	65				
AKAP6	9472	broad.mit.edu	37	14	33015409	33015409	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr14:33015409C>T	ENST00000280979.4	+	4	1720	c.1550C>T	c.(1549-1551)tCa>tTa	p.S517L	AKAP6_ENST00000557354.1_Missense_Mutation_p.S517L|AKAP6_ENST00000557272.1_Missense_Mutation_p.S517L	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	517					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GGGACTGGTTCAGGCAAACAA	0.463																																					Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.2		NA																	0				breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21						c.(1549-1551)TCA>TTA		A-kinase anchor protein 6							60.0	63.0	62.0					14																	33015409		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33015409C>T	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.1550C>T	14.37:g.33015409C>T	ENSP00000280979:p.Ser517Leu					AKAP6_uc010aml.2_Missense_Mutation_p.S514L	p.S517L	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	4	1720	+	Breast(36;0.0388)|Prostate(35;0.15)		517					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.1550C>T	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.871555	0.33069	.	.	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557272;ENST00000553547	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	5.87	4.97	0.65823	.	0.858899	0.10230	N	0.699796	T	0.46502	0.1396	L	0.54323	1.7	0.20821	N	0.999847	P;P	0.35077	0.483;0.483	B;B	0.30943	0.122;0.122	T	0.43637	-0.9379	10	0.72032	D	0.01	-7.9964	14.6951	0.69115	0.1452:0.8548:0.0:0.0	.	517;517	A7E242;Q13023	.;AKAP6_HUMAN	L	517;517;517;275	ENSP00000280979:S517L;ENSP00000450531:S517L;ENSP00000451247:S517L;ENSP00000451239:S275L	ENSP00000280979:S517L	S	+	2	0	AKAP6	32085160	0.998000	0.40836	0.652000	0.29579	0.538000	0.34931	5.663000	0.68038	1.473000	0.48159	0.655000	0.94253	TCA		0.463	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		29	49	0	0	0	0	29	49				
FSCB	84075	broad.mit.edu	37	14	44975866	44975866	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr14:44975866G>T	ENST00000340446.4	-	1	616	c.325C>A	c.(325-327)Cca>Aca	p.P109T	RP11-163M18.1_ENST00000556228.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	109						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		ACACTCTCTGGCAATTCAATA	0.418																																						uc001wvn.2		NA																	0				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9						c.(325-327)CCA>ACA		fibrous sheath CABYR binding protein							188.0	189.0	189.0					14																	44975866		2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44975866G>T	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.325C>A	14.37:g.44975866G>T	ENSP00000344579:p.Pro109Thr						p.P109T	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	634	-			109					Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.325C>A	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.312529	0.40895	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.25250	1.81	4.82	4.82	0.62117	.	.	.	.	.	T	0.41971	0.1182	L	0.50333	1.59	0.29718	N	0.838872	D	0.71674	0.998	P	0.60173	0.87	T	0.24657	-1.0154	9	0.41790	T	0.15	-2.1605	15.7827	0.78272	0.0:0.0:1.0:0.0	.	109	Q5H9T9	FSCB_HUMAN	T	109	ENSP00000344579:P109T	ENSP00000344579:P109T	P	-	1	0	FSCB	44045616	0.939000	0.31865	0.998000	0.56505	0.572000	0.35998	2.211000	0.42825	2.416000	0.81992	0.561000	0.74099	CCA		0.418	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		45	97	1	0	2.36e-20	3.03e-20	45	97				
C14orf159	80017	broad.mit.edu	37	14	91642340	91642340	+	Missense_Mutation	SNP	G	G	T	rs75931548	byFrequency	TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr14:91642340G>T	ENST00000523771.1	+	7	1258	c.655G>T	c.(655-657)Ggg>Tgg	p.G219W	C14orf159_ENST00000412671.2_Missense_Mutation_p.G224W|C14orf159_ENST00000525393.2_Missense_Mutation_p.G95W|C14orf159_ENST00000520328.1_Missense_Mutation_p.G207W|C14orf159_ENST00000522322.1_Missense_Mutation_p.G219W|C14orf159_ENST00000256324.10_Missense_Mutation_p.G224W|C14orf159_ENST00000523816.1_Missense_Mutation_p.G219W|C14orf159_ENST00000518868.1_Missense_Mutation_p.G224W|C14orf159_ENST00000428926.2_Missense_Mutation_p.G219W|C14orf159_ENST00000521077.2_Missense_Mutation_p.G224W			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	219						mitochondrion (GO:0005739)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		GTGTCCCCCAGGGGAGGTTCC	0.537																																						uc001xzb.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(655-657)GGG>TGG		hypothetical protein LOC80017 isoform a							94.0	79.0	85.0					14																	91642340		2203	4300	6503	SO:0001583	missense	80017					mitochondrion		g.chr14:91642340G>T	AK097294	CCDS32141.1, CCDS41979.1, CCDS45150.1, CCDS66693.1, CCDS73677.1	14q32.11	2012-09-26			ENSG00000133943	ENSG00000133943			20498	protein-coding gene	gene with protein product							Standard	NM_001102367		Approved	FLJ39975	uc001xze.2	Q7Z3D6	OTTHUMG00000164980	ENST00000523771.1:c.655G>T	14.37:g.91642340G>T	ENSP00000429655:p.Gly219Trp					C14orf159_uc010atv.1_RNA|C14orf159_uc001xyy.2_Missense_Mutation_p.G224W|C14orf159_uc001xyx.2_Missense_Mutation_p.G207W|C14orf159_uc001xyw.2_Missense_Mutation_p.G224W|C14orf159_uc001xzc.2_Missense_Mutation_p.G219W|C14orf159_uc001xza.2_Missense_Mutation_p.G224W|C14orf159_uc001xyv.2_Missense_Mutation_p.G224W|C14orf159_uc001xyz.2_Missense_Mutation_p.G95W|C14orf159_uc001xze.2_Missense_Mutation_p.G219W	p.G219W	NM_001102366	NP_001095836	Q7Z3D6	CN159_HUMAN		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)	9	1423	+		all_cancers(154;0.0191)|all_epithelial(191;0.241)	219					B3KUI7|Q86SW3|Q86SX8|Q86SX9|Q86T08|Q86TV5|Q96GW5|Q9H7G0|Q9H8Y9|Q9H9W6	Missense_Mutation	SNP	ENST00000523771.1	37	c.655G>T	CCDS32141.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.915826	0.33815	.	.	ENSG00000133943	ENST00000520328;ENST00000256324;ENST00000521077;ENST00000518868;ENST00000523816;ENST00000517518;ENST00000525393;ENST00000428926;ENST00000522322;ENST00000523771;ENST00000412671	T;T;T;T;T;T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19	5.06	3.24	0.37175	.	0.328507	0.31542	N	0.007474	T	0.63058	0.2479	M	0.89840	3.065	0.09310	N	1	D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.997;0.999;0.999	D;D;D;D;D;D	0.79784	0.993;0.986;0.993;0.983;0.988;0.988	T	0.57837	-0.7742	10	0.87932	D	0	.	9.9215	0.41468	0.1588:0.0:0.8412:0.0	.	219;95;224;207;224;224	Q7Z3D6;Q8NB88;B3KVU6;Q7Z3D6-5;Q7Z3D6-2;Q7Z3D6-3	CN159_HUMAN;.;.;.;.;.	W	207;224;224;224;219;224;95;219;219;219;224	ENSP00000429453:G207W;ENSP00000256324:G224W;ENSP00000430137:G224W;ENSP00000428263:G224W;ENSP00000428974:G219W;ENSP00000428652:G224W;ENSP00000435459:G95W;ENSP00000404343:G219W;ENSP00000427953:G219W;ENSP00000429655:G219W;ENSP00000404196:G224W	ENSP00000256324:G224W	G	+	1	0	C14orf159	90712093	0.945000	0.32115	0.002000	0.10522	0.278000	0.26855	2.252000	0.43196	0.649000	0.30751	0.561000	0.74099	GGG		0.537	C14orf159-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381273.1	NM_024952		26	45	1	0	4.43e-23	5.72e-23	26	45				
OR4N4	283694	broad.mit.edu	37	15	22383155	22383155	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr15:22383155C>A	ENST00000328795.4	+	1	774	c.683C>A	c.(682-684)gCa>gAa	p.A228E	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GTTCGTAGGGCAGCTTCTGAA	0.493																																						uc001yuc.1		NA																	0				ovary(4)|skin(1)	5						c.(682-684)GCA>GAA		olfactory receptor, family 4, subfamily N,							191.0	158.0	169.0					15																	22383155		2190	4261	6451	SO:0001583	missense	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22383155C>A	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.683C>A	15.37:g.22383155C>A	ENSP00000332500:p.Ala228Glu					LOC727924_uc001yub.1_Intron|OR4N4_uc010tzv.1_Missense_Mutation_p.A228E	p.A228E	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	7	1664	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	228			Cytoplasmic (Potential).		Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	c.683C>A	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	5.548	0.286048	0.10513	.	.	ENSG00000183706	ENST00000328795	T	0.00123	8.7	3.37	3.37	0.38596	GPCR, rhodopsin-like superfamily (1);	0.499449	0.16966	N	0.192301	T	0.00144	0.0004	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.39251	-0.9623	10	0.87932	D	0	-3.9494	12.5975	0.56478	0.0:1.0:0.0:0.0	.	228	Q8N0Y3	OR4N4_HUMAN	E	228	ENSP00000332500:A228E	ENSP00000332500:A228E	A	+	2	0	OR4N4	19884519	0.000000	0.05858	0.005000	0.12908	0.001000	0.01503	-0.237000	0.08990	1.870000	0.54199	0.404000	0.27445	GCA		0.493	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			37	324	1	0	9.81e-26	1.27e-25	37	324				
SPG11	80208	broad.mit.edu	37	15	44941138	44941138	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr15:44941138T>A	ENST00000261866.7	-	7	1544	c.1528A>T	c.(1528-1530)Agt>Tgt	p.S510C	SPG11_ENST00000558319.1_Missense_Mutation_p.S510C|SPG11_ENST00000559193.1_Missense_Mutation_p.S510C|SPG11_ENST00000535302.2_Missense_Mutation_p.S510C|SPG11_ENST00000427534.2_Missense_Mutation_p.S510C	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	510					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GTGCTGGCACTTCCATGGATC	0.398																																						uc001ztx.2		NA																	0				ovary(4)|skin(1)	5						c.(1528-1530)AGT>TGT		spatacsin isoform 1							110.0	105.0	107.0					15																	44941138		2198	4298	6496	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44941138T>A		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.1528A>T	15.37:g.44941138T>A	ENSP00000261866:p.Ser510Cys					SPG11_uc010ueh.1_Missense_Mutation_p.S510C|SPG11_uc010uei.1_Missense_Mutation_p.S510C|SPG11_uc001zua.1_Missense_Mutation_p.S510C	p.S510C	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	7	1559	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	510			Extracellular (Potential).		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.1528A>T	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.629014	0.87560	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.81415	-1.49;-1.24;-1.23	5.85	5.85	0.93711	.	0.047977	0.85682	D	0.000000	D	0.89051	0.6605	M	0.70275	2.135	0.52099	D	0.999941	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.999	D	0.90012	0.4122	10	0.72032	D	0.01	.	15.89	0.79291	0.0:0.0:0.0:1.0	.	510;510;510;510	C4B7M2;F5H3N6;B9EK60;Q96JI7	.;.;.;SPTCS_HUMAN	C	510	ENSP00000261866:S510C;ENSP00000445278:S510C;ENSP00000396110:S510C	ENSP00000261866:S510C	S	-	1	0	SPG11	42728430	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.436000	0.59948	2.235000	0.73313	0.460000	0.39030	AGT		0.398	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			14	42	0	0	0	0	14	42				
LINGO1	84894	broad.mit.edu	37	15	77907870	77907870	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr15:77907870G>A	ENST00000355300.6	-	2	553	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C	LINGO1_ENST00000561030.1_Missense_Mutation_p.R121C	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	127					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						CGGTTGCTGCGGAGACCCAGC	0.602																																						uc002bct.1		NA																	0				ovary(1)|lung(1)	2						c.(379-381)CGC>TGC		leucine-rich repeat neuronal 6A							57.0	63.0	61.0					15																	77907870		2091	4213	6304	SO:0001583	missense	84894				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		g.chr15:77907870G>A	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.379C>T	15.37:g.77907870G>A	ENSP00000347451:p.Arg127Cys					LINGO1_uc002bcu.1_Missense_Mutation_p.R121C	p.R127C	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN			2	431	-			127			Extracellular (Potential).|LRR 3.		D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	ENST00000355300.6	37	c.379C>T	CCDS45313.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.754753	0.49362	.	.	ENSG00000169783	ENST00000355300	T	0.80393	-1.37	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.72269	0.3439	L	0.35341	1.055	0.80722	D	1	P	0.39576	0.679	B	0.36534	0.227	T	0.75684	-0.3232	10	0.59425	D	0.04	.	14.4024	0.67056	0.0:0.0:0.8166:0.1834	.	127	Q96FE5	LIGO1_HUMAN	C	127	ENSP00000347451:R127C	ENSP00000347451:R127C	R	-	1	0	LINGO1	75694925	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	5.073000	0.64395	2.659000	0.90383	0.561000	0.74099	CGC		0.602	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		13	25	0	0	0	0	13	25				
CHRNA3	1136	broad.mit.edu	37	15	78894291	78894291	+	Silent	SNP	G	G	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr15:78894291G>T	ENST00000326828.5	-	5	1077	c.693C>A	c.(691-693)atC>atA	p.I231I	CHRNA3_ENST00000348639.3_Silent_p.I231I	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	231					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane potential (GO:0042391)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18					Bupropion(DB01156)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)|Varenicline(DB01273)	GCGAGTATGTGATGTCGGGGT	0.547																																						uc002bec.2		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(691-693)ATC>ATA		cholinergic receptor, nicotinic, alpha 3							215.0	177.0	190.0					15																	78894291		2196	4293	6489	SO:0001819	synonymous_variant	1136				activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78894291G>T		CCDS10305.1, CCDS53964.1	15q24	2012-02-11	2012-02-07		ENSG00000080644	ENSG00000080644		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1957	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 3 (neuronal)"""	118503	"""cholinergic receptor, nicotinic, alpha polypeptide 3"""			2004777	Standard	NM_000743		Approved		uc002bec.3	P32297	OTTHUMG00000143863	ENST00000326828.5:c.693C>A	15.37:g.78894291G>T						CHRNA3_uc002bea.2_RNA|CHRNA3_uc002beb.2_Silent_p.I231I	p.I231I	NM_000743	NP_000734	P32297	ACHA3_HUMAN			5	879	-			231			Extracellular (Potential).		Q15823|Q4KMN8|Q86U77|Q96RH3|Q99553|Q9BQ93|Q9BRR4	Silent	SNP	ENST00000326828.5	37	c.693C>A	CCDS10305.1																																																																																				0.547	CHRNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290111.3			22	29	1	0	9.96e-16	1.26e-15	22	29				
CEMIP	57214	broad.mit.edu	37	15	81225737	81225737	+	Missense_Mutation	SNP	G	G	A	rs377151951		TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr15:81225737G>A	ENST00000394685.3	+	23	3364	c.2945G>A	c.(2944-2946)cGg>cAg	p.R982Q	KIAA1199_ENST00000220244.3_Missense_Mutation_p.R982Q|RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000356249.5_Missense_Mutation_p.R982Q			Q8WUJ3	CEMIP_HUMAN		982					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TGGCTGGTCCGGCACCCAGAC	0.582													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15588	0.0		0.0	False		,,,				2504	0.0					uc002bfw.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(2944-2946)CGG>CAG		KIAA1199 precursor		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	96.0	88.0	91.0		2945	3.4	1.0	15		91	0,8600		0,0,4300	no	missense	KIAA1199	NM_018689.1	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	982/1362	81225737	1,13005	2203	4300	6503	SO:0001583	missense	57214							g.chr15:81225737G>A																												ENST00000394685.3:c.2945G>A	15.37:g.81225737G>A	ENSP00000378177:p.Arg982Gln					KIAA1199_uc010unn.1_Missense_Mutation_p.R982Q	p.R982Q	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN			22	3205	+			982					Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	ENST00000394685.3	37	c.2945G>A	CCDS10315.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.016836	0.54576	2.27E-4	0.0	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249	T;T;T	0.80393	-1.37;-1.37;-1.37	4.41	3.4	0.38934	Pectin lyase fold/virulence factor (1);	0.139059	0.41396	D	0.000891	T	0.68641	0.3023	L	0.44542	1.39	0.26498	N	0.974817	D	0.56746	0.977	B	0.38954	0.286	T	0.63902	-0.6532	10	0.30854	T	0.27	-23.5139	9.8729	0.41187	0.1536:0.0:0.8464:0.0	.	982	Q8WUJ3	K1199_HUMAN	Q	982	ENSP00000220244:R982Q;ENSP00000378177:R982Q;ENSP00000348583:R982Q	ENSP00000220244:R982Q	R	+	2	0	KIAA1199	79012792	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	3.324000	0.52022	2.283000	0.76528	0.514000	0.50259	CGG		0.582	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			29	70	0	0	0	0	29	70				
TRAP1	10131	broad.mit.edu	37	16	3722789	3722789	+	Silent	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr16:3722789C>T	ENST00000246957.5	-	10	1165	c.1077G>A	c.(1075-1077)ctG>ctA	p.L359L	TRAP1_ENST00000538171.1_Silent_p.L306L|TRAP1_ENST00000575671.1_Silent_p.L150L|TRAP1_ENST00000573872.1_Intron	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	359					chaperone-mediated protein folding (GO:0061077)|negative regulation of cellular respiration (GO:1901856)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to stress (GO:0006950)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|tumor necrosis factor receptor binding (GO:0005164)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				CGCTGGAGCCCAGCTCCCGGC	0.622																																						uc002cvt.3		NA																	0				central_nervous_system(1)	1						c.(1075-1077)CTG>CTA		TNF receptor-associated protein 1 precursor							115.0	83.0	94.0					16																	3722789		2197	4300	6497	SO:0001819	synonymous_variant	10131				cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding	g.chr16:3722789C>T	AF154108	CCDS10508.1, CCDS61824.1	16p13.3	2011-09-02			ENSG00000126602	ENSG00000126602		"""Heat shock proteins / HSPC"""	16264	protein-coding gene	gene with protein product		606219				10652318, 7876093	Standard	NM_016292		Approved	HSP75, HSP90L	uc002cvt.4	Q12931	OTTHUMG00000129427	ENST00000246957.5:c.1077G>A	16.37:g.3722789C>T						TRAP1_uc002cvs.2_Silent_p.L150L|TRAP1_uc010uxf.1_Silent_p.L306L	p.L359L	NM_016292	NP_057376	Q12931	TRAP1_HUMAN			10	1166	-		Ovarian(90;0.0261)	359					B4DR68|D3DUC8|F5H897|O43642|O75235|Q9UHL5	Silent	SNP	ENST00000246957.5	37	c.1077G>A	CCDS10508.1																																																																																				0.622	TRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251586.2	NM_016292		5	12	0	0	0	0	5	12				
TGFB1I1	7041	broad.mit.edu	37	16	31485728	31485728	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr16:31485728G>T	ENST00000394863.3	+	6	601	c.471G>T	c.(469-471)gaG>gaT	p.E157D	TGFB1I1_ENST00000567607.1_Missense_Mutation_p.E140D|TGFB1I1_ENST00000361773.3_Missense_Mutation_p.E140D|TGFB1I1_ENST00000394858.2_Missense_Mutation_p.E140D	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	157	Interaction with PTK2B/PYK2.|Transcription activation. {ECO:0000250}.				androgen receptor signaling pathway (GO:0030521)|cell adhesion (GO:0007155)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|response to heat (GO:0009408)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|I-SMAD binding (GO:0070411)|Roundabout binding (GO:0048495)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			lung(8)|upper_aerodigestive_tract(1)	9						CCACTCTGGAGCTGGATAGAC	0.572																																						uc002ecd.1		NA																	0					0						c.(469-471)GAG>GAT		transforming growth factor beta 1 induced							74.0	69.0	70.0					16																	31485728		2197	4300	6497	SO:0001583	missense	7041				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding	g.chr16:31485728G>T	AB007836	CCDS10713.1, CCDS42156.1	16p11	2008-02-05			ENSG00000140682	ENSG00000140682			11767	protein-coding gene	gene with protein product		602353				9422762, 10075738	Standard	NM_015927		Approved	Hic-5, TSC-5, ARA55, HIC-5	uc002ecd.2	O43294	OTTHUMG00000132467	ENST00000394863.3:c.471G>T	16.37:g.31485728G>T	ENSP00000378332:p.Glu157Asp					TGFB1I1_uc002ece.1_Missense_Mutation_p.E140D|TGFB1I1_uc010caq.1_5'UTR	p.E157D	NM_001042454	NP_001035919	O43294	TGFI1_HUMAN			6	497	+			157			Transcription activation (By similarity).|LD motif 3.|Interaction with PTK2B.		B2R8D5|Q9BPW3|Q9Y2V5	Missense_Mutation	SNP	ENST00000394863.3	37	c.471G>T	CCDS42156.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.111009	0.77210	.	.	ENSG00000140682	ENST00000394863;ENST00000361773;ENST00000394858	T;T;T	0.58652	0.32;0.34;0.34	5.37	1.8	0.24995	.	0.061011	0.64402	D	0.000005	T	0.64724	0.2624	M	0.68593	2.085	0.46954	D	0.999267	P	0.45569	0.861	P	0.54100	0.742	T	0.65541	-0.6143	10	0.56958	D	0.05	.	10.2942	0.43613	0.264:0.0:0.736:0.0	.	157	O43294	TGFI1_HUMAN	D	157;140;140	ENSP00000378332:E157D;ENSP00000355117:E140D;ENSP00000378327:E140D	ENSP00000355117:E140D	E	+	3	2	TGFB1I1	31393229	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.512000	0.35812	0.625000	0.30304	0.655000	0.94253	GAG		0.572	TGFB1I1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255630.3			14	81	1	0	2.32e-09	2.81e-09	14	81				
CNGB1	1258	broad.mit.edu	37	16	57994742	57994742	+	Splice_Site	SNP	A	A	G			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr16:57994742A>G	ENST00000251102.8	-	8	595		c.e8+1		CNGB1_ENST00000564448.1_Splice_Site|CNGB1_ENST00000311183.4_Splice_Site	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1						cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						TCCTTGGCTCACCTCAGAGGA	0.642																																					Colon(156;1293 1853 16336 28962 38659)	uc002emt.2		NA																	0				breast(3)|pancreas(1)	4						c.e8+1		cyclic nucleotide gated channel beta 1 isoform							30.0	36.0	34.0					16																	57994742		1901	4122	6023	SO:0001630	splice_region_variant	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57994742A>G	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.534+1T>C	16.37:g.57994742A>G						CNGB1_uc010cdh.2_Splice_Site_p.E178_splice|CNGB1_uc002emu.2_Splice_Site_p.E178_splice	p.E178_splice	NM_001297	NP_001288	Q14028	CNGB1_HUMAN			8	599	-								H3BN09|O43636|Q13059|Q14029|Q9UMG2	Splice_Site	SNP	ENST00000251102.8	37	c.534_splice	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.182063	0.38511	.	.	ENSG00000070729	ENST00000251102;ENST00000311183	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7151	0.46008	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CNGB1	56552243	1.000000	0.71417	0.795000	0.32087	0.021000	0.10359	2.649000	0.46656	1.841000	0.53522	0.533000	0.62120	.		0.642	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297	Intron	14	30	0	0	0	0	14	30				
CNOT1	23019	broad.mit.edu	37	16	58572083	58572083	+	Silent	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr16:58572083C>T	ENST00000317147.5	-	37	5555	c.5223G>A	c.(5221-5223)caG>caA	p.Q1741Q	CNOT1_ENST00000569240.1_Silent_p.Q1736Q|CNOT1_ENST00000245138.4_Silent_p.Q592Q	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1741					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GAAGATCATACTGCTGCATAT	0.403																																						uc002env.2		NA																	0				ovary(4)|central_nervous_system(2)	6						c.(5221-5223)CAG>CAA		CCR4-NOT transcription complex, subunit 1							102.0	93.0	96.0					16																	58572083		2198	4300	6498	SO:0001819	synonymous_variant	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58572083C>T	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.5223G>A	16.37:g.58572083C>T						CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Silent_p.Q1736Q|CNOT1_uc010vik.1_Silent_p.Q698Q	p.Q1741Q	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	37	5516	-			1741					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Silent	SNP	ENST00000317147.5	37	c.5223G>A	CCDS10799.1																																																																																				0.403	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		7	23	0	0	0	0	7	23				
CDH11	1009	broad.mit.edu	37	16	65038544	65038544	+	Splice_Site	SNP	C	C	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr16:65038544C>A	ENST00000268603.4	-	3	844		c.e3+1		CDH11_ENST00000569624.1_Intron|CDH11_ENST00000394156.3_Splice_Site|CDH11_ENST00000566827.1_Intron	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)						adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GGCAGCCTTACCCTGCCCACA	0.572			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												uc002eoi.2		NA		Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				lung(10)|ovary(3)|skin(1)	14						c.e3+1		cadherin 11, type 2 preproprotein							47.0	38.0	41.0					16																	65038544		2202	4300	6502	SO:0001630	splice_region_variant	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65038544C>A	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.228+1G>T	16.37:g.65038544C>A		TSP Lung(24;0.17)				CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Splice_Site_p.R76_splice|CDH11_uc010vin.1_Intron|CDH11_uc010vio.1_Splice_Site_p.R76_splice	p.R76_splice	NM_001797	NP_001788	P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	3	662	-		Ovarian(137;0.0973)						A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Splice_Site	SNP	ENST00000268603.4	37	c.228_splice	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.456153	0.84209	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000536902	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6407	0.91394	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDH11	63596045	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	7.458000	0.80787	2.662000	0.90505	0.591000	0.81541	.		0.572	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664	Intron	17	16	1	0	9.77e-05	0.000108959	17	16				
CTCF	10664	broad.mit.edu	37	16	67650762	67650762	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr16:67650762G>T	ENST00000264010.4	+	5	1511	c.1067G>T	c.(1066-1068)tGc>tTc	p.C356F	AC009095.4_ENST00000388909.4_RNA|CTCF_ENST00000401394.1_Missense_Mutation_p.C28F	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	356					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		TGTTCCATGTGCGATTACGCC	0.448																																					Colon(175;1200 1966 6945 23069 27405)	uc002etl.2		NA																	0				ovary(1)	1						c.(1066-1068)TGC>TTC		CCCTC-binding factor							319.0	263.0	282.0					16																	67650762		2198	4300	6498	SO:0001583	missense	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67650762G>T	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.1067G>T	16.37:g.67650762G>T	ENSP00000264010:p.Cys356Phe					CTCF_uc010cek.2_Missense_Mutation_p.C28F	p.C356F	NM_006565	NP_006556	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	5	1357	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	356			C2H2-type 4.		B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	ENST00000264010.4	37	c.1067G>T	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.562271	0.65538	.	.	ENSG00000102974	ENST00000264010;ENST00000401394	D;D	0.85861	-2.04;-2.04	5.02	5.02	0.67125	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.149074	0.47852	D	0.000216	D	0.94876	0.8344	H	0.95187	3.635	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.96185	0.9133	10	0.87932	D	0	.	18.5993	0.91242	0.0:0.0:1.0:0.0	.	356	P49711	CTCF_HUMAN	F	356;28	ENSP00000264010:C356F;ENSP00000384707:C28F	ENSP00000264010:C356F	C	+	2	0	CTCF	66208263	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	9.397000	0.97276	2.622000	0.88805	0.650000	0.86243	TGC		0.448	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		80	130	1	0	1.07e-64	1.41e-64	80	130				
ESRP2	80004	broad.mit.edu	37	16	68265188	68265188	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr16:68265188T>A	ENST00000565858.1	-	12	1720	c.1634A>T	c.(1633-1635)gAg>gTg	p.E545V	ESRP2_ENST00000473183.2_Missense_Mutation_p.E535V|RP11-96D1.11_ENST00000571197.1_RNA	NM_024939.2	NP_079215.2	Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	545	RRM 3.				mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						CACGTAGCGCTCCTTCATCAC	0.617																																						uc010cfa.1		NA																	0				ovary(1)	1						c.(1633-1635)GAG>GTG		RNA binding motif protein 35B							98.0	73.0	81.0					16																	68265188		2198	4300	6498	SO:0001583	missense	80004				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding	g.chr16:68265188T>A	AK025571	CCDS10863.1	16q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000103067	ENSG00000103067		"""RNA binding motif (RRM) containing"""	26152	protein-coding gene	gene with protein product		612960	"""RNA binding motif protein 35B"""	RBM35B		12477932	Standard	NM_024939		Approved	FLJ21918	uc002evq.1	Q9H6T0	OTTHUMG00000137557	ENST00000565858.1:c.1634A>T	16.37:g.68265188T>A	ENSP00000454554:p.Glu545Val					ESRP2_uc002evp.1_Intron|ESRP2_uc002evq.1_Missense_Mutation_p.E535V	p.E545V	NM_024939	NP_079215	Q9H6T0	ESRP2_HUMAN			12	1822	-			545			RRM 3.		Q8N6H8|Q8WZ15|Q9H6I4	Missense_Mutation	SNP	ENST00000565858.1	37	c.1634A>T		.	.	.	.	.	.	.	.	.	.	T	22.8	4.336636	0.81801	.	.	ENSG00000103067	ENST00000473183	T	0.08282	3.11	5.79	5.79	0.91817	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.048423	0.85682	D	0.000000	T	0.20495	0.0493	L	0.44542	1.39	0.58432	D	0.999999	D;P	0.57257	0.979;0.823	D;P	0.64877	0.93;0.596	T	0.00726	-1.1592	10	0.33940	T	0.23	-12.7736	16.1311	0.81442	0.0:0.0:0.0:1.0	.	545;535	Q9H6T0;Q9H6T0-2	ESRP2_HUMAN;.	V	535	ENSP00000418748:E535V	ENSP00000418748:E535V	E	-	2	0	ESRP2	66822689	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.991000	0.88244	2.208000	0.71279	0.460000	0.39030	GAG		0.617	ESRP2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000433083.1	NM_024939		21	39	0	0	0	0	21	39				
OVCA2	124641	broad.mit.edu	37	17	1945365	1945365	+	Silent	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr17:1945365G>A	ENST00000572195.1	+	1	39	c.24G>A	c.(22-24)cgG>cgA	p.R8R	DPH1_ENST00000263083.6_Intron|RP11-667K14.4_ENST00000572404.1_RNA|DPH1_ENST00000570477.1_Intron|RP11-667K14.3_ENST00000572790.1_lincRNA	NM_080822.2	NP_543012.1	Q8WZ82	OVCA2_HUMAN	ovarian tumor suppressor candidate 2	8					metabolic process (GO:0008152)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)										GACCCCTGCGGGTCCTGTGCC	0.716											OREG0024078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ftx.2		NA																	0					0						c.(22-24)CGG>CGA		candidate tumor suppressor in ovarian cancer 2							4.0	5.0	5.0					17																	1945365		1952	3954	5906	SO:0001819	synonymous_variant	124641				response to retinoic acid	cytoplasm	hydrolase activity	g.chr17:1945365G>A	AF321875	CCDS11015.1	17p13.3	2012-10-08			ENSG00000262664	ENSG00000262664			24203	protein-coding gene	gene with protein product	"""candidate tumor suppressor in ovarian cancer 2"""	607896				11979432, 8616839, 16368187	Standard	NM_080822		Approved		uc002ftx.3	Q8WZ82	OTTHUMG00000132471	ENST00000572195.1:c.24G>A	17.37:g.1945365G>A			OREG0024078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	599	DPH1_uc002ftr.1_Intron|DPH1_uc002fts.2_Intron|DPH1_uc002ftt.2_Intron|DPH1_uc010cjx.2_Intron|DPH1_uc010vqs.1_Intron|DPH1_uc002ftu.2_Intron|DPH1_uc002ftv.2_Intron|DPH1_uc002ftw.2_3'UTR	p.R8R	NM_080822	NP_543012	Q8WZ82	OVCA2_HUMAN			1	89	+			8					Q86XN3|Q8IW87|Q9UCX9	Silent	SNP	ENST00000572195.1	37	c.24G>A	CCDS11015.1																																																																																				0.716	OVCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255636.5	NM_080822		11	4	0	0	0	0	11	4				
TRPV3	162514	broad.mit.edu	37	17	3419860	3419860	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr17:3419860C>T	ENST00000576742.1	-	16	2410	c.2089G>A	c.(2089-2091)Gcc>Acc	p.A697T	SPATA22_ENST00000541913.1_5'Flank|TRPV3_ENST00000301365.4_Missense_Mutation_p.A697T|TRPV3_ENST00000572519.1_Missense_Mutation_p.A697T	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	697					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	ATGGTCCTGGCTCTCTGGGGA	0.537																																						uc002fvt.1		NA																	0				ovary(4)	4						c.(2089-2091)GCC>ACC		transient receptor potential cation channel,	Menthol(DB00825)						100.0	87.0	91.0					17																	3419860		2203	4300	6503	SO:0001583	missense	162514					integral to membrane	calcium channel activity	g.chr17:3419860C>T	AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.2089G>A	17.37:g.3419860C>T	ENSP00000461518:p.Ala697Thr					SPATA22_uc010vrg.1_5'Flank|TRPV3_uc002fvs.1_RNA|TRPV3_uc010vrh.1_Missense_Mutation_p.A681T|TRPV3_uc010vri.1_Missense_Mutation_p.A652T|TRPV3_uc010vrj.1_Missense_Mutation_p.A681T|TRPV3_uc010vrk.1_RNA|TRPV3_uc010vrl.1_Missense_Mutation_p.A681T|TRPV3_uc010vrm.1_RNA|TRPV3_uc002fvr.2_Missense_Mutation_p.A697T|TRPV3_uc002fvu.2_Missense_Mutation_p.A697T	p.A697T	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN			16	2411	-			697			Cytoplasmic (Potential).		Q8NDW7|Q8NET9|Q8NFH2	Missense_Mutation	SNP	ENST00000576742.1	37	c.2089G>A	CCDS11029.1	.	.	.	.	.	.	.	.	.	.	c	32	5.180615	0.94846	.	.	ENSG00000167723	ENST00000381913;ENST00000301365;ENST00000430263	D	0.90563	-2.69	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000001	D	0.94509	0.8232	L	0.59912	1.85	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.995;1.0;0.995;1.0;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.998;0.968;0.996;0.927;0.998;0.996;0.998	D	0.94398	0.7620	10	0.66056	D	0.02	-14.0845	18.9322	0.92571	0.0:1.0:0.0:0.0	.	681;681;697;681;697;697;697	E7EV24;B7ZKP9;Q2M3L1;B7ZKP6;Q8NET8-3;Q8NET8;Q8NET8-2	.;.;.;.;.;TRPV3_HUMAN;.	T	697;697;681	ENSP00000301365:A697T	ENSP00000301365:A697T	A	-	1	0	TRPV3	3366610	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.102000	0.64572	2.808000	0.96608	0.650000	0.86243	GCC		0.537	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068		13	12	0	0	0	0	13	12				
ZZEF1	23140	broad.mit.edu	37	17	3977538	3977538	+	Silent	SNP	A	A	G	rs377636730		TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr17:3977538A>G	ENST00000381638.2	-	24	3715	c.3591T>C	c.(3589-3591)gaT>gaC	p.D1197D	ZZEF1_ENST00000574474.1_5'Flank	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1197							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ACACGGCAACATCGGGCAGCC	0.587											OREG0024096	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002fxe.2		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(3589-3591)GAT>GAC		zinc finger, ZZ type with EF hand domain 1		A		0,4406		0,0,2203	190.0	180.0	183.0		3591	-1.3	1.0	17		183	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZZEF1	NM_015113.3		0,1,6502	GG,GA,AA		0.0116,0.0,0.0077		1197/2962	3977538	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23140						calcium ion binding|zinc ion binding	g.chr17:3977538A>G	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.3591T>C	17.37:g.3977538A>G			OREG0024096	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	615		p.D1197D	NM_015113	NP_055928	O43149	ZZEF1_HUMAN			24	3655	-			1197					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Silent	SNP	ENST00000381638.2	37	c.3591T>C	CCDS11043.1																																																																																				0.587	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		84	70	0	0	0	0	84	70				
ZNF232	7775	broad.mit.edu	37	17	5009729	5009729	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr17:5009729G>T	ENST00000250076.3	-	5	1379	c.725C>A	c.(724-726)tCa>tAa	p.S242*	ZNF232_ENST00000575538.1_5'UTR|ZNF232_ENST00000416429.2_3'UTR|ZNF232_ENST00000575898.1_Nonsense_Mutation_p.S233*	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	215					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)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						GAACACCTGTGATTCCACTTC	0.448																																						uc002gas.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(643-645)TCA>TAA		zinc finger protein 232							100.0	97.0	98.0					17																	5009729		2203	4300	6503	SO:0001587	stop_gained	7775				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:5009729G>T	AF080169	CCDS11068.1	17p13.2	2013-01-09			ENSG00000167840	ENSG00000167840		"""-"", ""Zinc fingers, C2H2-type"""	13026	protein-coding gene	gene with protein product						11311944	Standard	NM_014519		Approved	ZSCAN11	uc002gat.3	Q9UNY5	OTTHUMG00000099450	ENST00000250076.3:c.725C>A	17.37:g.5009729G>T	ENSP00000250076:p.Ser242*					ZNF232_uc002gar.1_Nonsense_Mutation_p.S233*|ZNF232_uc002gat.2_Nonsense_Mutation_p.S242*	p.S215*	NM_014519	NP_055334	Q9UNY5	ZN232_HUMAN			5	1398	-			215						Nonsense_Mutation	SNP	ENST00000250076.3	37	c.644C>A	CCDS11068.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.397883	0.25205	.	.	ENSG00000167840	ENST00000250076	.	.	.	3.13	3.13	0.36017	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	12.5247	0.56079	0.0:0.0:1.0:0.0	.	.	.	.	X	242	.	ENSP00000250076:S242X	S	-	2	0	ZNF232	4950453	0.977000	0.34250	0.356000	0.25785	0.271000	0.26615	1.858000	0.39408	2.052000	0.61016	0.655000	0.94253	TCA		0.448	ZNF232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216915.1	NM_014519		30	14	1	0	1.4e-14	1.75e-14	30	14				
TP53	7157	broad.mit.edu	37	17	7577126	7577126	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr17:7577126T>A	ENST00000269305.4	-	8	1001	c.812A>T	c.(811-813)gAg>gTg	p.E271V	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.E271V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.E271V|TP53_ENST00000445888.2_Missense_Mutation_p.E271V|TP53_ENST00000359597.4_Missense_Mutation_p.E271V	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	271	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.E271V(6)|p.E271G(3)|p.?(2)|p.E271fs*74(2)|p.G266_E271delGRNSFE(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.L265_K305del41(1)|p.E271P(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.E271del(1)|p.E271*(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.E271fs*34(1)|p.E271_R273delEVR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AACACGCACCTCAAAGCTGTT	0.532		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		35	Substitution - Missense(10)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(6)|Unknown(2)|Substitution - Nonsense(1)	p.E271K(22)|p.E271*(14)|p.0?(7)|p.E271V(5)|p.E271Q(3)|p.E271G(3)|p.E271D(3)|p.?(2)|p.G266_E271delGRNSFE(2)|p.E271E(2)|p.E271fs*73(1)|p.E258fs*71(1)|p.E271_R273delEVR(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.E271P(1)|p.E271del(1)|p.S269fs*34(1)|p.E271fs*34(1)|p.E271fs*35(1)	breast(5)|central_nervous_system(4)|urinary_tract(4)|bone(4)|upper_aerodigestive_tract(3)|large_intestine(3)|stomach(3)|haematopoietic_and_lymphoid_tissue(3)|oesophagus(2)|liver(2)|salivary_gland(1)|skin(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM942136	TP53	M		c.(811-813)GAG>GTG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							60.0	52.0	55.0					17																	7577126		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577126T>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.812A>T	17.37:g.7577126T>A	ENSP00000269305:p.Glu271Val	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.E271V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E139V|TP53_uc010cng.1_Missense_Mutation_p.E139V|TP53_uc002gii.1_Missense_Mutation_p.E139V|TP53_uc010cnh.1_Missense_Mutation_p.E271V|TP53_uc010cni.1_Missense_Mutation_p.E271V|TP53_uc002gij.2_Missense_Mutation_p.E271V	p.E271V	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1006	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	271		E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> A (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.812A>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.727540	0.89390	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99861	-7.26;-7.26;-7.26;-7.26;-7.26;-7.26	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99857	0.9933	M	0.88979	2.995	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.97110	0.999;0.992;0.999;1.0	D	0.96447	0.9331	10	0.87932	D	0	-38.0695	12.9367	0.58319	0.0:0.0:0.0:1.0	.	271;271;271;271	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	V	271;271;271;271;271;260;139	ENSP00000352610:E271V;ENSP00000269305:E271V;ENSP00000398846:E271V;ENSP00000391127:E271V;ENSP00000391478:E271V;ENSP00000425104:E139V	ENSP00000269305:E271V	E	-	2	0	TP53	7517851	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	7.802000	0.85969	2.154000	0.67381	0.379000	0.24179	GAG		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		16	9	0	0	0	0	16	9				
DNAH9	1770	broad.mit.edu	37	17	11554533	11554533	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr17:11554533G>T	ENST00000262442.4	+	13	2313	c.2245G>T	c.(2245-2247)Gtt>Ttt	p.V749F	DNAH9_ENST00000454412.2_Missense_Mutation_p.V749F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	749	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTACAACAAGGTTATGAAAAC	0.463																																						uc002gne.2		NA																	0				skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(2245-2247)GTT>TTT		dynein, axonemal, heavy chain 9 isoform 2							113.0	121.0	118.0					17																	11554533		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11554533G>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.2245G>T	17.37:g.11554533G>T	ENSP00000262442:p.Val749Phe					DNAH9_uc010coo.2_Missense_Mutation_p.V43F	p.V749F	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	13	2313	+		Breast(5;0.0122)|all_epithelial(5;0.131)	749			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.2245G>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.913741	0.52439	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.59224	0.28;0.28	5.34	-0.608	0.11611	Dynein heavy chain, domain-1 (1);	0.607511	0.16502	N	0.211587	T	0.62134	0.2403	M	0.69358	2.11	0.80722	D	1	P	0.50528	0.936	P	0.54590	0.756	T	0.62604	-0.6819	10	0.87932	D	0	.	7.0934	0.25297	0.2982:0.2136:0.4882:0.0	.	749	Q9NYC9	DYH9_HUMAN	F	749	ENSP00000262442:V749F;ENSP00000414874:V749F	ENSP00000262442:V749F	V	+	1	0	DNAH9	11495258	0.902000	0.30710	0.928000	0.36995	0.686000	0.39977	-0.026000	0.12392	0.004000	0.14682	-0.176000	0.13171	GTT		0.463	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		5	69	1	0	0.00116845	0.00127074	5	69				
MYO15A	51168	broad.mit.edu	37	17	18075505	18075505	+	Silent	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr17:18075505C>T	ENST00000205890.5	+	64	10589	c.10251C>T	c.(10249-10251)tcC>tcT	p.S3417S	MYO15A_ENST00000451725.2_Missense_Mutation_p.P211L|RP11-258F1.1_ENST00000577847.1_RNA|MYO15A_ENST00000418233.3_Silent_p.S681S	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3417	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TCGGCTCCTCCTTCTTCTTCA	0.582																																						uc010vxh.1		NA																	0				skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9						c.(10249-10251)TCC>TCT		myosin XV							100.0	107.0	104.0					17																	18075505		2126	4218	6344	SO:0001819	synonymous_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18075505C>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.10251C>T	17.37:g.18075505C>T						MYO15A_uc010vxi.1_Silent_p.S681S|MYO15A_uc010vxk.1_Silent_p.S110S|MYO15A_uc010vxl.1_Silent_p.S406S|MYO15A_uc002gsl.2_Intron|MYO15A_uc010vxm.1_Missense_Mutation_p.P241L|MYO15A_uc010cpv.2_RNA	p.S3417S	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN			63	10589	+	all_neural(463;0.228)		3417			Tail.|FERM.		B4DFC7	Silent	SNP	ENST00000205890.5	37	c.10251C>T	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.195310	0.58017	.	.	ENSG00000091536	ENST00000451725	D	0.98329	-4.87	5.65	2.56	0.30785	.	.	.	.	.	D	0.95677	0.8594	.	.	.	0.39286	D	0.964659	B	0.13145	0.007	B	0.09377	0.004	D	0.93390	0.6751	8	0.87932	D	0	.	8.3998	0.32579	0.0:0.7287:0.129:0.1423	.	211	B4DQJ3	.	L	211	ENSP00000409098:P211L	ENSP00000409098:P211L	P	+	2	0	MYO15A	18016230	0.997000	0.39634	1.000000	0.80357	0.992000	0.81027	0.545000	0.23268	0.727000	0.32360	0.655000	0.94253	CCT		0.582	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		4	33	0	0	0	0	4	33				
MYO18A	399687	broad.mit.edu	37	17	27426719	27426719	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr17:27426719C>T	ENST00000527372.1	-	22	3749	c.3569G>A	c.(3568-3570)aGg>aAg	p.R1190K	MYO18A_ENST00000533112.1_Missense_Mutation_p.R1190K|MYO18A_ENST00000531253.1_Missense_Mutation_p.R1190K|MYO18A_ENST00000354329.4_Missense_Mutation_p.R1190K	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1190	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GGTTAGGTTCCTGCTGGTTTG	0.607																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	uc002hdt.1		NA																	0					0						c.(3568-3570)AGG>AAG		myosin 18A isoform a							49.0	55.0	53.0					17																	27426719		1990	4170	6160	SO:0001583	missense	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27426719C>T	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.3569G>A	17.37:g.27426719C>T	ENSP00000437073:p.Arg1190Lys					MYO18A_uc010wbc.1_Missense_Mutation_p.R732K|MYO18A_uc002hds.2_Missense_Mutation_p.R732K|MYO18A_uc010csa.1_Missense_Mutation_p.R1190K|MYO18A_uc002hdu.1_Missense_Mutation_p.R1190K|MYO18A_uc010wbd.1_Missense_Mutation_p.R859K	p.R1190K	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		22	3727	-			1190			IQ.		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.3569G>A	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.196093	0.38806	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	5.77	3.42	0.39159	.	0.214437	0.53938	N	0.000050	T	0.41994	0.1183	N	0.03608	-0.345	0.29388	N	0.862804	B;B;B;B;B	0.06786	0.0;0.001;0.001;0.001;0.0	B;B;B;B;B	0.08055	0.003;0.002;0.001;0.001;0.001	T	0.28332	-1.0047	10	0.12766	T	0.61	.	9.6148	0.39685	0.0:0.7481:0.0:0.2519	.	859;802;1190;1190;1190	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	K	1190;1190;1190;1190;1190;86;86;802	ENSP00000346291:R1190K;ENSP00000435932:R1190K;ENSP00000434228:R1190K;ENSP00000437073:R1190K	ENSP00000346291:R1190K	R	-	2	0	MYO18A	24450845	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.296000	0.33389	1.577000	0.49804	0.655000	0.94253	AGG		0.607	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		12	29	0	0	0	0	12	29				
TAOK1	57551	broad.mit.edu	37	17	27857580	27857580	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr17:27857580A>T	ENST00000261716.3	+	18	2823	c.2304A>T	c.(2302-2304)ttA>ttT	p.L768F	TAOK1_ENST00000536202.1_Missense_Mutation_p.L620F	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	768					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			CCCGGAAATTAGCTATCTTGG	0.443																																						uc002hdz.1		NA																	0				upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(2302-2304)TTA>TTT		TAO kinase 1							108.0	97.0	101.0					17																	27857580		2203	4300	6503	SO:0001583	missense	57551				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity	g.chr17:27857580A>T	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.2304A>T	17.37:g.27857580A>T	ENSP00000261716:p.Leu768Phe					TAOK1_uc010wbe.1_Missense_Mutation_p.L620F|TAOK1_uc010wbf.1_Missense_Mutation_p.L768F	p.L768F	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	Colorectal(6;0.198)		18	2498	+			768			Potential.		A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Missense_Mutation	SNP	ENST00000261716.3	37	c.2304A>T	CCDS32601.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.288466	0.80914	.	.	ENSG00000160551	ENST00000261716;ENST00000536202	T;T	0.80304	-1.36;0.94	5.57	4.46	0.54185	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000001	D	0.87454	0.6181	M	0.85945	2.785	0.21841	N	0.999518	D;D	0.89917	0.996;1.0	P;D	0.91635	0.731;0.999	T	0.79300	-0.1860	10	0.52906	T	0.07	.	3.2417	0.06783	0.6517:0.0:0.3483:0.0	.	620;768	B7ZLV6;Q7L7X3	.;TAOK1_HUMAN	F	768;620	ENSP00000261716:L768F;ENSP00000438819:L620F	ENSP00000261716:L768F	L	+	3	2	TAOK1	24881706	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.220000	0.51207	2.129000	0.65627	0.477000	0.44152	TTA		0.443	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	NM_020791		28	37	0	0	0	0	28	37				
ASIC2	40	broad.mit.edu	37	17	32483076	32483076	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr17:32483076C>T	ENST00000359872.6	-	1	1237	c.476G>A	c.(475-477)cGt>cAt	p.R159H		NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	159					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	ATGGCCCACACGGTGCAGGAA	0.562																																						uc002hhu.2		NA																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(475-477)CGT>CAT		amiloride-sensitive cation channel 1, neuronal	Amiloride(DB00594)						103.0	109.0	107.0					17																	32483076		2119	4247	6366	SO:0001583	missense	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:32483076C>T	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.476G>A	17.37:g.32483076C>T	ENSP00000352934:p.Arg159His						p.R159H	NM_001094	NP_001085	Q16515	ACCN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215)	1	750	-		Breast(31;0.042)|Ovarian(249;0.202)	159			Extracellular (By similarity).		E9PBX2|Q13553|Q6DJU1|Q8N3E2	Missense_Mutation	SNP	ENST00000359872.6	37	c.476G>A	CCDS42296.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095587	0.76870	.	.	ENSG00000108684	ENST00000359872	T	0.66280	-0.2	4.96	4.96	0.65561	.	.	.	.	.	T	0.81351	0.4804	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83450	0.0048	9	0.51188	T	0.08	.	15.7471	0.77955	0.0:1.0:0.0:0.0	.	159	Q16515	ACCN1_HUMAN	H	159	ENSP00000352934:R159H	ENSP00000352934:R159H	R	-	2	0	ACCN1	29507189	1.000000	0.71417	0.994000	0.49952	0.982000	0.71751	7.647000	0.83462	2.559000	0.86315	0.655000	0.94253	CGT		0.562	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		39	74	0	0	0	0	39	74				
MAPT	4137	broad.mit.edu	37	17	44096055	44096055	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr17:44096055C>A	ENST00000571987.1	+	12	2020	c.2020C>A	c.(2020-2022)Ctg>Atg	p.L674M	MAPT_ENST00000535772.1_Missense_Mutation_p.L326M|MAPT_ENST00000347967.5_Missense_Mutation_p.L232M|MAPT_ENST00000574436.1_Missense_Mutation_p.L357M|MAPT_ENST00000420682.2_Missense_Mutation_p.L328M|MAPT_ENST00000340799.5_Missense_Mutation_p.L328M|MAPT_ENST00000415613.2_Missense_Mutation_p.L692M|MAPT_ENST00000262410.5_Missense_Mutation_p.L674M|MAPT_ENST00000334239.8_Missense_Mutation_p.L268M|MAPT_ENST00000351559.5_Missense_Mutation_p.L357M|MAPT_ENST00000431008.3_Missense_Mutation_p.L326M|MAPT_ENST00000570299.1_3'UTR|MAPT_ENST00000344290.5_Missense_Mutation_p.L692M|MAPT_ENST00000576518.1_Missense_Mutation_p.L257M|MAPT_ENST00000446361.3_Missense_Mutation_p.L299M			P10636	TAU_HUMAN	microtubule-associated protein tau	674					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	GATTGGGTCCCTGGACAATAT	0.493																																						uc002ijr.3		NA																	0				pancreas(1)	1						c.(2020-2022)CTG>ATG		microtubule-associated protein tau isoform 1							164.0	160.0	161.0					17																	44096055		2203	4300	6503	SO:0001583	missense	4137				cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton	g.chr17:44096055C>A	J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"""G protein beta1/gamma2 subunit-interacting factor 1"", ""microtubule-associated protein tau, isoform 4"", ""protein phosphatase 1, regulatory subunit 103"""	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.2020C>A	17.37:g.44096055C>A	ENSP00000458742:p.Leu674Met					MAPT_uc010dau.2_Missense_Mutation_p.L692M|MAPT_uc002ijs.3_Missense_Mutation_p.L357M|MAPT_uc002ijx.3_Missense_Mutation_p.L328M|MAPT_uc002ijt.3_Missense_Mutation_p.L299M|MAPT_uc002iju.3_Missense_Mutation_p.L268M|MAPT_uc002ijv.3_Missense_Mutation_p.L275M	p.L674M	NM_016835	NP_058519	P10636	TAU_HUMAN			13	2340	+		Melanoma(429;0.216)	674			Tau/MAP 4.		P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Missense_Mutation	SNP	ENST00000571987.1	37	c.2020C>A	CCDS11501.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.604047	0.66445	.	.	ENSG00000186868	ENST00000344290;ENST00000262410;ENST00000351559;ENST00000340799;ENST00000535772;ENST00000347967;ENST00000354326;ENST00000446361;ENST00000334239;ENST00000420682;ENST00000415613;ENST00000431008	D;D;D;D;D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57;-3.57;-3.57;-3.57;-3.57	4.87	1.75	0.24633	.	0.000000	0.33092	N	0.005299	D	0.93808	0.8020	L	0.28400	0.85	0.47407	D	0.99941	D;D;D;P;P;D;D	0.89917	1.0;0.999;0.999;0.754;0.851;0.976;0.999	D;D;D;P;P;P;D	0.91635	0.999;0.997;0.997;0.674;0.674;0.723;0.999	D	0.91144	0.4948	10	0.48119	T	0.1	-10.8617	8.8296	0.35076	0.0:0.7535:0.0:0.2465	.	692;328;275;268;299;357;674	P10636-9;P10636-7;F8WAB2;P10636-2;P10636-6;P10636-8;P10636	.;.;.;.;.;.;TAU_HUMAN	M	692;674;357;328;326;232;275;268;299;328;692;180	ENSP00000340820:L692M;ENSP00000262410:L674M;ENSP00000303214:L357M;ENSP00000340438:L328M;ENSP00000443028:L326M;ENSP00000302706:L232M;ENSP00000413056:L328M;ENSP00000410838:L692M	ENSP00000262410:L674M	L	+	1	2	MAPT	41451902	0.065000	0.20965	1.000000	0.80357	0.969000	0.65631	0.415000	0.21181	0.190000	0.20209	0.561000	0.74099	CTG		0.493	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	NM_016835		6	186	1	0	3.6e-05	4.09e-05	6	186				
ACSF2	80221	broad.mit.edu	37	17	48548429	48548429	+	Missense_Mutation	SNP	C	C	T	rs148600715		TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr17:48548429C>T	ENST00000300441.4	+	11	1360	c.1256C>T	c.(1255-1257)gCg>gTg	p.A419V	ACSF2_ENST00000506085.1_3'UTR|CHAD_ENST00000508540.1_5'Flank|ACSF2_ENST00000541920.1_Missense_Mutation_p.A259V|ACSF2_ENST00000502667.1_Missense_Mutation_p.A406V|ACSF2_ENST00000427954.2_Missense_Mutation_p.A444V|ACSF2_ENST00000504392.1_Missense_Mutation_p.A376V|CHAD_ENST00000258969.4_5'Flank	NM_025149.4	NP_079425.3	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	419					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ligase activity (GO:0016874)			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GTGACATTCGCGCACTTCCCT	0.562																																						uc002iqu.2		NA																	0					0						c.(1255-1257)GCG>GTG		acyl-CoA synthetase family member 2 precursor		C	VAL/ALA	0,4406		0,0,2203	111.0	96.0	101.0		1256	3.5	1.0	17	dbSNP_134	101	1,8599	1.2+/-3.3	0,1,4299	no	missense	ACSF2	NM_025149.4	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	419/616	48548429	1,13005	2203	4300	6503	SO:0001583	missense	80221				fatty acid metabolic process	mitochondrion	ATP binding|ligase activity	g.chr17:48548429C>T	AK024573, BC012053	CCDS11567.1, CCDS74103.1, CCDS74104.1, CCDS74105.1	17q21.33	2007-10-17			ENSG00000167107	ENSG00000167107		"""Acyl-CoA synthetase family"""	26101	protein-coding gene	gene with protein product		610465				17762044	Standard	NM_001288968		Approved	FLJ20920, ACSMW	uc002iqu.2	Q96CM8	OTTHUMG00000162128	ENST00000300441.4:c.1256C>T	17.37:g.48548429C>T	ENSP00000300441:p.Ala419Val					ACSF2_uc010wml.1_Missense_Mutation_p.A376V|ACSF2_uc010wmm.1_Missense_Mutation_p.A444V|ACSF2_uc010wmn.1_Missense_Mutation_p.A406V|ACSF2_uc010wmo.1_Missense_Mutation_p.A259V|CHAD_uc010dbr.2_5'Flank|CHAD_uc010dbs.2_5'Flank|ACSF2_uc010dbt.1_5'UTR	p.A419V	NM_025149	NP_079425	Q96CM8	ACSF2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.55e-09)		11	1360	+	Breast(11;1.93e-18)		419					B4DFQ6|B4DHT5|B4DUF5|Q9H7G2	Missense_Mutation	SNP	ENST00000300441.4	37	c.1256C>T	CCDS11567.1	.	.	.	.	.	.	.	.	.	.	C	7.240	0.601113	0.13939	0.0	1.16E-4	ENSG00000167107	ENST00000300441;ENST00000541920;ENST00000504392;ENST00000427954;ENST00000502667	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	4.67	3.51	0.40186	AMP-dependent synthetase/ligase (1);	0.424110	0.29100	N	0.013147	T	0.26593	0.0650	N	0.10664	0.02	0.19300	N	0.999973	B;B;B;B	0.17852	0.01;0.024;0.01;0.01	B;B;B;B	0.17098	0.017;0.017;0.017;0.017	T	0.19484	-1.0304	10	0.56958	D	0.05	-18.7376	8.7394	0.34547	0.0:0.0887:0.0:0.9113	.	406;444;376;419	B4DHT5;B4DFQ6;E9PF16;Q96CM8	.;.;.;ACSF2_HUMAN	V	419;259;376;444;406	ENSP00000300441:A419V;ENSP00000437987:A259V;ENSP00000425964:A376V;ENSP00000401831:A444V;ENSP00000421884:A406V	ENSP00000300441:A419V	A	+	2	0	ACSF2	45903428	1.000000	0.71417	0.984000	0.44739	0.006000	0.05464	2.378000	0.44309	0.628000	0.30357	-0.672000	0.03802	GCG		0.562	ACSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367423.3	NM_025149		33	54	0	0	0	0	33	54				
CACNA1G	8913	broad.mit.edu	37	17	48694921	48694921	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr17:48694921G>C	ENST00000359106.5	+	29	5144	c.5144G>C	c.(5143-5145)cGc>cCc	p.R1715P	CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1681P|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1670P|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1704P|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1697P|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1692P|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1670P|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1681P|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1722P|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1681P|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1697P|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1715P|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1704P|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1704P|CACNA1G_ENST00000352832.5_Missense_Mutation_p.R1681P|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1663P|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1715P|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1715P|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1715P|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1692P|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1674P|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1704P|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1658P|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1681P|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1697P	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1715					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AGGGTGCTGCGCATTGCCCGA	0.622																																						uc002irk.1		NA																	0				breast(1)	1						c.(5143-5145)CGC>CCC		voltage-dependent calcium channel alpha 1G	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						62.0	61.0	61.0					17																	48694921		2133	4251	6384	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48694921G>C	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.5144G>C	17.37:g.48694921G>C	ENSP00000352011:p.Arg1715Pro					CACNA1G_uc002irj.1_Missense_Mutation_p.R1681P|CACNA1G_uc002irl.1_Missense_Mutation_p.R1692P|CACNA1G_uc002irm.1_Missense_Mutation_p.R1681P|CACNA1G_uc002irn.1_Missense_Mutation_p.R1674P|CACNA1G_uc002iro.1_Missense_Mutation_p.R1681P|CACNA1G_uc002irp.1_Missense_Mutation_p.R1715P|CACNA1G_uc002irq.1_Missense_Mutation_p.R1692P|CACNA1G_uc002irr.1_Missense_Mutation_p.R1715P|CACNA1G_uc002irs.1_Missense_Mutation_p.R1704P|CACNA1G_uc002irt.1_Missense_Mutation_p.R1697P|CACNA1G_uc002irv.1_Missense_Mutation_p.R1704P|CACNA1G_uc002irw.1_Missense_Mutation_p.R1692P|CACNA1G_uc002iru.1_Missense_Mutation_p.R1681P|CACNA1G_uc002irx.1_Missense_Mutation_p.R1628P|CACNA1G_uc002iry.1_Missense_Mutation_p.R1617P|CACNA1G_uc002irz.1_Missense_Mutation_p.R1628P|CACNA1G_uc002isa.1_Missense_Mutation_p.R1594P|CACNA1G_uc002isb.1_Missense_Mutation_p.R1635P|CACNA1G_uc002isc.1_Missense_Mutation_p.R1617P|CACNA1G_uc002isd.1_Missense_Mutation_p.R1610P|CACNA1G_uc002ise.1_Missense_Mutation_p.R1583P|CACNA1G_uc002isf.1_Missense_Mutation_p.R1610P|CACNA1G_uc002isg.1_Missense_Mutation_p.R1576P|CACNA1G_uc002ish.1_Missense_Mutation_p.R1583P|CACNA1G_uc002isi.1_Missense_Mutation_p.R1571P	p.R1715P	NM_018896	NP_061496	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		29	5516	+	Breast(11;6.7e-17)		1715			IV.|Helical; Name=S4 of repeat IV; (Potential).		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.5144G>C	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	29.2	4.989786	0.93106	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98807	-5.15;-5.15;-5.15;-5.15;-5.15;-5.15;-5.15;-5.15;-5.15;-5.15;-5.15;-5.15;-5.15;-5.15;-5.15;-5.15;-5.15;-5.15;-5.15;-5.15;-5.15;-5.15;-5.15;-5.15;-5.15	5.02	5.02	0.67125	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99622	0.9862	H	0.99626	4.665	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.999;0.999;1.0;0.999;0.998;1.0;0.998;1.0;1.0;0.999;1.0;1.0;0.997;1.0;1.0;0.989;1.0;1.0;0.996;1.0;1.0;1.0;0.999	D	0.97219	0.9876	10	0.87932	D	0	.	18.3653	0.90389	0.0:0.0:1.0:0.0	.	1658;1670;1663;1697;1670;1697;1722;1681;1715;1704;1715;1692;1704;1704;1697;1704;1715;1692;1715;1681;1674;1681;1692;1715;1681	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	P	1692;1681;1681;1674;1692;1704;1670;1658;1663;1681;1715;1704;1670;1715;1681;1715;1697;1704;1722;1681;1715;1697;1697;1715;1704	ENSP00000353990:R1692P;ENSP00000339302:R1681P;ENSP00000347078:R1681P;ENSP00000409759:R1674P;ENSP00000425522:R1692P;ENSP00000426261:R1704P;ENSP00000425451:R1670P;ENSP00000422407:R1658P;ENSP00000426814:R1663P;ENSP00000427238:R1681P;ENSP00000423112:R1715P;ENSP00000420918:R1704P;ENSP00000426172:R1670P;ENSP00000423045:R1715P;ENSP00000427173:R1681P;ENSP00000426098:R1715P;ENSP00000425698:R1697P;ENSP00000426232:R1704P;ENSP00000423317:R1722P;ENSP00000350979:R1681P;ENSP00000352011:R1715P;ENSP00000414388:R1697P;ENSP00000423155:R1697P;ENSP00000422268:R1715P;ENSP00000421518:R1704P	ENSP00000339302:R1681P	R	+	2	0	CACNA1G	46049920	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.869000	0.99810	2.348000	0.79779	0.655000	0.94253	CGC		0.622	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		12	81	0	0	0	0	12	81				
MPO	4353	broad.mit.edu	37	17	56355336	56355336	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr17:56355336G>T	ENST00000225275.3	-	7	1232	c.1056C>A	c.(1054-1056)aaC>aaA	p.N352K	MPO_ENST00000578493.1_5'UTR|MPO_ENST00000340482.3_Missense_Mutation_p.N384K	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	352					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	TGTTGCGCAGGTTCCTGGCCA	0.642																																						uc002ivu.1		NA																	0				ovary(2)|large_intestine(1)|pancreas(1)	4						c.(1054-1056)AAC>AAA		myeloperoxidase	Cefdinir(DB00535)						78.0	70.0	72.0					17																	56355336		2203	4300	6503	SO:0001583	missense	4353				anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	g.chr17:56355336G>T		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.1056C>A	17.37:g.56355336G>T	ENSP00000225275:p.Asn352Lys						p.N352K	NM_000250	NP_000241	P05164	PERM_HUMAN			7	1233	-			352					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	ENST00000225275.3	37	c.1056C>A	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	G	0.206	-1.040624	0.02013	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.65916	-0.18;-0.18	5.32	-7.55	0.01327	.	1.354100	0.04211	N	0.331705	T	0.22820	0.0551	N	0.00771	-1.2	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.14008	-1.0488	10	0.15952	T	0.53	-1.2724	4.4374	0.11557	0.1671:0.3615:0.3466:0.1248	.	352	P05164	PERM_HUMAN	K	384;352	ENSP00000344419:N384K;ENSP00000225275:N352K	ENSP00000225275:N352K	N	-	3	2	MPO	53710335	0.000000	0.05858	0.002000	0.10522	0.131000	0.20780	-1.610000	0.02064	-1.018000	0.03363	-0.311000	0.09066	AAC		0.642	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			26	78	1	0	1.43e-11	1.74e-11	26	78				
KIAA0195	9772	broad.mit.edu	37	17	73485427	73485427	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr17:73485427A>G	ENST00000314256.7	+	8	1239	c.845A>G	c.(844-846)cAc>cGc	p.H282R	KIAA0195_ENST00000375248.5_Missense_Mutation_p.H292R|KIAA0195_ENST00000579208.1_Intron|KIAA0195_ENST00000583795.1_3'UTR	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	282						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTGATGCTACACTATGCTGTG	0.637																																						uc002jnz.3		NA																	0				ovary(1)	1						c.(844-846)CAC>CGC		hypothetical protein LOC9772							91.0	74.0	80.0					17																	73485427		2203	4300	6503	SO:0001583	missense	9772				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	g.chr17:73485427A>G		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.845A>G	17.37:g.73485427A>G	ENSP00000313885:p.His282Arg					KIAA0195_uc010wsa.1_Missense_Mutation_p.H292R|KIAA0195_uc010wsb.1_5'Flank	p.H282R	NM_014738	NP_055553	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		8	1120	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		282			Helical; (Potential).		O75536|Q86XF1	Missense_Mutation	SNP	ENST00000314256.7	37	c.845A>G	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	A	3.856	-0.030876	0.07543	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	T;T	0.38887	1.11;1.11	5.52	1.95	0.26073	.	0.462814	0.22845	N	0.054938	T	0.15349	0.0370	N	0.04508	-0.205	0.21740	N	0.999566	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.22941	-1.0202	10	0.10902	T	0.67	-13.9863	4.7063	0.12851	0.5864:0.0:0.2765:0.1371	.	292;282	C9JL75;Q12767	.;K0195_HUMAN	R	282;292	ENSP00000313885:H282R;ENSP00000364397:H292R	ENSP00000313885:H282R	H	+	2	0	KIAA0195	70997022	0.997000	0.39634	0.970000	0.41538	0.911000	0.54048	1.072000	0.30678	0.397000	0.25310	0.459000	0.35465	CAC		0.637	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		10	68	0	0	0	0	10	68				
OGFOD3	79701	broad.mit.edu	37	17	80350347	80350348	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr17:80350347_80350348CC>AA	ENST00000313056.5	-	9	1037_1038	c.886_887GG>TT	c.(886-888)GGc>TTc	p.G296F	OGFOD3_ENST00000578287.1_5'UTR|OGFOD3_ENST00000329197.5_3'UTR	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3	Q6PK18	OGFD3_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 3	296	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)										GTAACGGGTGCCCCAGTGGACC	0.624																																						uc002keu.1		NA																	0				ovary(1)	1						c.(886-888)GGC>TTC		hypothetical protein LOC79701 isoform 1																																				SO:0001583	missense	79701					integral to membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:80350347_80350348CC>AA	BC023602	CCDS11811.1, CCDS11812.1	17q25.3	2012-10-23	2012-10-23	2012-10-23	ENSG00000181396	ENSG00000181396			26174	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 101"""	C17orf101		12477932	Standard	NM_175902		Approved	FLJ22222	uc002keu.2	Q6PK18		ENST00000313056.5:c.886_887delinsAA	17.37:g.80350347_80350348delinsAA	ENSP00000320116:p.Gly296Phe					C17orf101_uc002ket.1_3'UTR|C17orf101_uc010dip.1_RNA	p.G296F	NM_024648	NP_078924	Q6PK18	CQ101_HUMAN			9	987_988	-			296			Fe2OG dioxygenase.|Lumenal (Potential).		C9JDC8|Q8IZ37|Q9H6J2	Missense_Mutation	DNP	ENST00000313056.5	37	c.886_887GG>TT	CCDS11811.1																																																																																				0.624	OGFOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442895.1	NM_175902		5	21	0	0	0	0	5	21				
CEP192	55125	broad.mit.edu	37	18	13057679	13057679	+	Missense_Mutation	SNP	C	C	T	rs563248173		TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr18:13057679C>T	ENST00000325971.8	+	18	4009	c.2416C>T	c.(2416-2418)Cgc>Tgc	p.R806C	CEP192_ENST00000506447.1_Missense_Mutation_p.R1402C|CEP192_ENST00000430049.2_Missense_Mutation_p.R927C			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	806				R -> L (in Ref. 4; BAB84900). {ECO:0000305}.	centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TCCAACTGACCGCTGGCTGCA	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		18163	0.0		0.001	False		,,,				2504	0.0					uc010xac.1		NA																	0				ovary(4)|pancreas(1)	5						c.(4204-4206)CGC>TGC		centrosomal protein 192kDa							139.0	118.0	125.0					18																	13057679		2203	4300	6503	SO:0001583	missense	55125							g.chr18:13057679C>T	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.2416C>T	18.37:g.13057679C>T	ENSP00000317156:p.Arg806Cys					CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.R927C|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_5'UTR|CEP192_uc002krs.1_Missense_Mutation_p.R1143C	p.R1402C	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN			20	4284	+			1402					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.4204C>T		.	.	.	.	.	.	.	.	.	.	C	10.50	1.367105	0.24771	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.10960	2.82;2.85;2.87	5.53	4.65	0.58169	.	0.355710	0.26967	N	0.021594	T	0.10380	0.0254	L	0.51422	1.61	0.37474	D	0.915746	P;P;P	0.46952	0.534;0.887;0.735	B;B;B	0.38954	0.097;0.286;0.097	T	0.12218	-1.0556	10	0.52906	T	0.07	-1.7475	8.3195	0.32121	0.2645:0.6632:0.0:0.0722	.	927;1402;806	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	C	1402;806;806;927	ENSP00000427550:R1402C;ENSP00000317156:R806C;ENSP00000389190:R927C	ENSP00000317156:R806C	R	+	1	0	CEP192	13047679	0.781000	0.28676	0.173000	0.22940	0.209000	0.24338	1.109000	0.31135	1.300000	0.44818	0.650000	0.86243	CGC		0.502	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		48	13	0	0	0	0	48	13				
PIAS2	9063	broad.mit.edu	37	18	44424058	44424058	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr18:44424058C>A	ENST00000585916.1	-	8	999	c.1000G>T	c.(1000-1002)Gaa>Taa	p.E334*	PIAS2_ENST00000324794.7_Nonsense_Mutation_p.E334*|PIAS2_ENST00000545673.1_Nonsense_Mutation_p.E44*	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	334					androgen receptor signaling pathway (GO:0030521)|negative regulation of androgen receptor signaling pathway (GO:0060766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|regulation of osteoblast differentiation (GO:0045667)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						GTAGCAATTTCACTATCAGGA	0.294																																						uc002lck.2		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(1000-1002)GAA>TAA		protein inhibitor of activated STAT X isoform							97.0	103.0	101.0					18																	44424058		2203	4300	6503	SO:0001587	stop_gained	9063				androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding	g.chr18:44424058C>A	AF077953	CCDS32824.1, CCDS32825.1	18q12.1-q12.3	2011-10-11				ENSG00000078043		"""Zinc fingers, MIZ-type"""	17311	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 4"""	603567				9724754, 9256341	Standard	NM_004671		Approved	PIASX-BETA, miz, PIASX-ALPHA, ZMIZ4	uc002lck.3	O75928		ENST00000585916.1:c.1000G>T	18.37:g.44424058C>A	ENSP00000465676:p.Glu334*					PIAS2_uc010dnp.2_Nonsense_Mutation_p.E32*|PIAS2_uc002lcl.2_Nonsense_Mutation_p.E334*|PIAS2_uc010xda.1_Nonsense_Mutation_p.E32*|PIAS2_uc002lcm.2_Nonsense_Mutation_p.E334*|PIAS2_uc002lcn.1_Nonsense_Mutation_p.E338*	p.E334*	NM_004671	NP_004662	O75928	PIAS2_HUMAN			8	1158	-			334			SP-RING-type.		O75927|Q96BT5|Q96KE3	Nonsense_Mutation	SNP	ENST00000585916.1	37	c.1000G>T	CCDS32824.1	.	.	.	.	.	.	.	.	.	.	C	38	7.172359	0.98111	.	.	ENSG00000078043	ENST00000398654;ENST00000262161;ENST00000398651;ENST00000545673;ENST00000324794	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.9368	20.1115	0.97913	0.0:1.0:0.0:0.0	.	.	.	.	X	334;334;330;44;334	.	ENSP00000262161:E334X	E	-	1	0	PIAS2	42678056	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.442000	0.80503	2.814000	0.96858	0.655000	0.94253	GAA		0.294	PIAS2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445656.2	NM_004671		24	23	1	0	5.62e-17	7.17e-17	24	23				
MUC16	94025	broad.mit.edu	37	19	9082378	9082378	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr19:9082378C>G	ENST00000397910.4	-	1	9640	c.9437G>C	c.(9436-9438)aGc>aCc	p.S3146T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3147	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGAAATAGAGCTTGCCCATGT	0.473																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(9436-9438)AGC>ACC		mucin 16							148.0	149.0	149.0					19																	9082378		1907	4117	6024	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9082378C>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.9437G>C	19.37:g.9082378C>G	ENSP00000381008:p.Ser3146Thr						p.S3146T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	9641	-			3147			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.9437G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	1.461	-0.562368	0.03939	.	.	ENSG00000181143	ENST00000397910	T	0.02552	4.25	0.235	0.235	0.15431	.	.	.	.	.	T	0.01592	0.0051	N	0.08118	0	.	.	.	B	0.31193	0.312	B	0.24541	0.054	T	0.40739	-0.9547	7	0.87932	D	0	.	.	.	.	.	3146	B5ME49	.	T	3146	ENSP00000381008:S3146T	ENSP00000381008:S3146T	S	-	2	0	MUC16	8943378	0.000000	0.05858	0.052000	0.19188	0.150000	0.21749	-0.865000	0.04250	0.308000	0.22923	0.313000	0.20887	AGC		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		22	24	0	0	0	0	22	24				
SMARCA4	6597	broad.mit.edu	37	19	11096928	11096928	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr19:11096928C>A	ENST00000429416.3	+	5	700	c.419C>A	c.(418-420)tCt>tAt	p.S140Y	SMARCA4_ENST00000444061.3_Missense_Mutation_p.S140Y|SMARCA4_ENST00000541122.2_Missense_Mutation_p.S140Y|SMARCA4_ENST00000450717.3_Missense_Mutation_p.S140Y|SMARCA4_ENST00000590574.1_Missense_Mutation_p.S140Y|SMARCA4_ENST00000413806.3_Missense_Mutation_p.S140Y|SMARCA4_ENST00000358026.2_Missense_Mutation_p.S140Y|SMARCA4_ENST00000589677.1_Missense_Mutation_p.S140Y|SMARCA4_ENST00000344626.4_Missense_Mutation_p.S140Y	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	140	Necessary for interaction with SS18L1/CREST. {ECO:0000250}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AGTGGCCCGTCTTCGGGGCCC	0.662			"""F, N, Mis"""		NSCLC																																	uc002mqf.3		NA		Rec	yes		19	19p13.2	6597	F|N|Mis	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67						c.(418-420)TCT>TAT		SWI/SNF-related matrix-associated							37.0	40.0	39.0					19																	11096928		2203	4300	6503	SO:0001583	missense	6597	Rhabdoid_Predisposition_syndrome			chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11096928C>A	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.419C>A	19.37:g.11096928C>A	ENSP00000395654:p.Ser140Tyr					SMARCA4_uc010dxp.2_Missense_Mutation_p.S140Y|SMARCA4_uc010dxo.2_Missense_Mutation_p.S140Y|SMARCA4_uc002mqg.1_Missense_Mutation_p.S140Y|SMARCA4_uc010dxq.2_Missense_Mutation_p.S140Y|SMARCA4_uc010dxr.2_Missense_Mutation_p.S140Y|SMARCA4_uc002mqj.3_Missense_Mutation_p.S140Y|SMARCA4_uc010dxs.2_Missense_Mutation_p.S140Y|SMARCA4_uc002mqe.2_Missense_Mutation_p.S140Y	p.S140Y	NM_003072	NP_003063	P51532	SMCA4_HUMAN			4	703	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	140			Necessary for interaction with SS18L1/CREST (By similarity).		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.419C>A	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.515680	0.27123	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22	4.33	4.33	0.51752	.	0.066515	0.64402	D	0.000009	T	0.75554	0.3865	N	0.14661	0.345	0.41984	D	0.990812	B;B;B;P;B;P;B	0.46277	0.07;0.07;0.07;0.875;0.07;0.454;0.07	B;B;B;B;B;B;B	0.35240	0.039;0.039;0.039;0.198;0.039;0.064;0.039	T	0.82104	-0.0622	10	0.72032	D	0.01	-17.8763	15.7793	0.78246	0.0:1.0:0.0:0.0	.	140;140;140;140;140;140;140	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	Y	140	ENSP00000395654:S140Y;ENSP00000350720:S140Y;ENSP00000343896:S140Y;ENSP00000445036:S140Y;ENSP00000392837:S140Y;ENSP00000397783:S140Y;ENSP00000414727:S140Y	ENSP00000343896:S140Y	S	+	2	0	SMARCA4	10957928	0.768000	0.28519	0.182000	0.23118	0.007000	0.05969	4.718000	0.61930	2.249000	0.74217	0.467000	0.42956	TCT		0.662	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		28	21	1	0	6.39e-12	7.85e-12	28	21				
CYP4F11	57834	broad.mit.edu	37	19	16034706	16034706	+	Silent	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr19:16034706G>A	ENST00000402119.4	-	6	1260	c.834C>T	c.(832-834)ctC>ctT	p.L278L	CYP4F11_ENST00000591841.1_5'UTR|CYP4F11_ENST00000326742.8_Silent_p.L278L|CYP4F11_ENST00000248041.8_Silent_p.L278L	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CCTGAGTGGGGAGGGTGCAGC	0.542																																						uc002nbu.2		NA																	0				ovary(1)	1						c.(832-834)CTC>CTT		cytochrome P450 family 4 subfamily F polypeptide							113.0	108.0	110.0					19																	16034706		2203	4300	6503	SO:0001819	synonymous_variant	57834				inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr19:16034706G>A	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"""Cytochrome P450s"""	13265	protein-coding gene	gene with protein product		611517	"""cytochrome P450, subfamily IVF, polypeptide 11"""			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.834C>T	19.37:g.16034706G>A						CYP4F11_uc010eab.1_Silent_p.L278L|CYP4F11_uc002nbt.2_Silent_p.L278L	p.L278L	NM_001128932	NP_001122404	Q9HBI6	CP4FB_HUMAN			7	870	-			278						Silent	SNP	ENST00000402119.4	37	c.834C>T	CCDS12337.1																																																																																				0.542	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187		69	90	0	0	0	0	69	90				
FAM129C	199786	broad.mit.edu	37	19	17654420	17654420	+	Missense_Mutation	SNP	C	C	A	rs10401716	byFrequency	TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr19:17654420C>A	ENST00000335393.4	+	13	1765	c.1627C>A	c.(1627-1629)Ctc>Atc	p.L543I	FAM129C_ENST00000599164.1_Missense_Mutation_p.L512I|FAM129C_ENST00000600871.1_Missense_Mutation_p.L489I|FAM129C_ENST00000352727.3_Intron|FAM129C_ENST00000332386.5_Missense_Mutation_p.L543I|FAM129C_ENST00000595684.1_Missense_Mutation_p.L543I|FAM129C_ENST00000300971.2_Missense_Mutation_p.L543I|FAM129C_ENST00000601861.1_Missense_Mutation_p.L512I|FAM129C_ENST00000599124.1_Intron|FAM129C_ENST00000449408.2_Missense_Mutation_p.L269I	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	543			L -> F (in dbSNP:rs10401716).							autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						GCTGAGCCAACTCGAGCCAGG	0.507																																						uc010xpr.1		NA																	0					0						c.(1627-1629)CTC>ATC		B-cell novel protein 1 isoform a							69.0	58.0	62.0					19																	17654420		2203	4300	6503	SO:0001583	missense	199786							g.chr19:17654420C>A	AY254198	CCDS12362.1, CCDS42521.1	19p13.11	2008-02-05				ENSG00000167483			24130	protein-coding gene	gene with protein product	B cell novel protein 1	609967				12886250	Standard	NM_173544		Approved	FLJ39802, BCNP1	uc021uqj.1	Q86XR2		ENST00000335393.4:c.1627C>A	19.37:g.17654420C>A	ENSP00000335040:p.Leu543Ile					FAM129C_uc010xpq.1_Missense_Mutation_p.L543I|FAM129C_uc002ngy.3_Missense_Mutation_p.L269I|FAM129C_uc010xpu.1_Missense_Mutation_p.L269I|FAM129C_uc002ngz.3_RNA|FAM129C_uc010eaw.2_Intron|FAM129C_uc002nhb.2_Missense_Mutation_p.L172I	p.L543I	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN			13	1765	+			543					B4DNU3|B4DVN7|Q7Z6H6|Q86XR3|Q86XR4|Q8TEQ3	Missense_Mutation	SNP	ENST00000335393.4	37	c.1627C>A	CCDS12362.1	.	.	.	.	.	.	.	.	.	.	c	12.15	1.850481	0.32699	.	.	ENSG00000167483	ENST00000335393;ENST00000332386;ENST00000300971;ENST00000449408;ENST00000435646	T;T;T;T	0.51325	1.02;0.98;0.9;0.71	5.01	2.83	0.33086	.	0.152670	0.30575	N	0.009331	T	0.58864	0.2152	M	0.76002	2.32	0.09310	N	1	D;D;D;D;D	0.63880	0.986;0.961;0.986;0.993;0.964	P;P;P;P;P	0.58520	0.782;0.689;0.782;0.84;0.708	T	0.50311	-0.8843	10	0.59425	D	0.04	-7.3815	8.1008	0.30857	0.0:0.8034:0.0:0.1966	.	489;543;543;269;543	E7ENP6;Q86XR2;Q86XR2-3;B4DNU3;Q86XR2-2	.;NIBL2_HUMAN;.;.;.	I	543;543;543;269;489	ENSP00000335040:L543I;ENSP00000333447:L543I;ENSP00000300971:L543I;ENSP00000394929:L269I	ENSP00000300971:L543I	L	+	1	0	FAM129C	17515420	0.357000	0.24938	0.005000	0.12908	0.071000	0.16799	1.005000	0.29834	1.102000	0.41551	0.306000	0.20318	CTC		0.507	FAM129C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464206.1	NM_173544		3	23	1	0	0.004672	0.00500316	3	23				
B3GNT3	10331	broad.mit.edu	37	19	17918965	17918965	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr19:17918965C>T	ENST00000318683.6	+	2	496	c.349C>T	c.(349-351)Cct>Tct	p.P117S	B3GNT3_ENST00000595387.1_Missense_Mutation_p.P117S	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	117					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)|galactosyltransferase activity (GO:0008378)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						CAAGTCCTCCCCTAGCAACTA	0.667																																						uc002nhk.1		NA																	0				upper_aerodigestive_tract(1)	1						c.(349-351)CCT>TCT		UDP-GlcNAc:betaGal							33.0	30.0	31.0					19																	17918965		2203	4300	6503	SO:0001583	missense	10331				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity	g.chr19:17918965C>T	AB015630	CCDS12364.1	19p13.1	2013-02-19				ENSG00000179913		"""Beta 3-glycosyltransferases"""	13528	protein-coding gene	gene with protein product	"""putative type II membrane protein"", ""beta-1,3-N-acetylglucosaminyltransferase bGnT-3"", ""transmembrane protein 3"""	605863		TMEM3		10072769, 11042166	Standard	NM_014256		Approved	B3GN-T3, beta3Gn-T3, HP10328, B3GNT-3	uc002nhl.1	Q9Y2A9		ENST00000318683.6:c.349C>T	19.37:g.17918965C>T	ENSP00000321874:p.Pro117Ser					B3GNT3_uc002nhl.1_Missense_Mutation_p.P117S|B3GNT3_uc010ebd.1_Missense_Mutation_p.P117S|B3GNT3_uc010ebe.1_Missense_Mutation_p.P117S	p.P117S	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN			2	434	+			117			Lumenal (Potential).		B2RAS4|Q6NWU9|Q6NXU9|Q8WWR6|Q9C0J2	Missense_Mutation	SNP	ENST00000318683.6	37	c.349C>T	CCDS12364.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.245989	0.39697	.	.	ENSG00000179913	ENST00000318683	T	0.34472	1.36	3.76	3.76	0.43208	.	0.000000	0.85682	U	0.000000	T	0.64238	0.2580	M	0.88105	2.93	0.53688	D	0.999973	D	0.89917	1.0	D	0.97110	1.0	T	0.72200	-0.4362	10	0.66056	D	0.02	.	13.0951	0.59187	0.0:1.0:0.0:0.0	.	117	Q9Y2A9	B3GN3_HUMAN	S	117	ENSP00000321874:P117S	ENSP00000321874:P117S	P	+	1	0	B3GNT3	17779965	0.960000	0.32886	0.101000	0.21167	0.027000	0.11550	2.464000	0.45067	1.648000	0.50643	0.478000	0.44815	CCT		0.667	B3GNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466877.1	NM_014256		9	32	0	0	0	0	9	32				
SUGP2	10147	broad.mit.edu	37	19	19130026	19130026	+	Missense_Mutation	SNP	C	C	T	rs186157014		TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr19:19130026C>T	ENST00000601879.1	-	4	2039	c.1742G>A	c.(1741-1743)cGa>cAa	p.R581Q	SUGP2_ENST00000337018.6_Missense_Mutation_p.R581Q|SUGP2_ENST00000600377.1_Missense_Mutation_p.R595Q|SUGP2_ENST00000456085.2_Missense_Mutation_p.R350Q|SUGP2_ENST00000452918.2_Missense_Mutation_p.R581Q			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	581					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R581Q(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GTGATCTGCTCGCTGGGGGAC	0.522																																						uc002nkx.2		NA																	1	Substitution - Missense(1)		endometrium(1)		0						c.(1741-1743)CGA>CAA		splicing factor, arginine/serine-rich 14							78.0	66.0	70.0					19																	19130026		2203	4300	6503	SO:0001583	missense	10147				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:19130026C>T	AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"""G patch domain containing"""	18641	protein-coding gene	gene with protein product		607993	"""splicing factor, arginine/serine-rich 14"""	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.1742G>A	19.37:g.19130026C>T	ENSP00000472286:p.Arg581Gln					SFRS14_uc002nkz.1_Missense_Mutation_p.R595Q|SFRS14_uc002nla.1_Missense_Mutation_p.R581Q|SFRS14_uc002nlb.2_Missense_Mutation_p.R581Q|SFRS14_uc010xqk.1_Missense_Mutation_p.R350Q	p.R581Q	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161)		4	1888	-			581					C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Missense_Mutation	SNP	ENST00000601879.1	37	c.1742G>A	CCDS12392.1	.	.	.	.	.	.	.	.	.	.	C	33	5.227260	0.95173	.	.	ENSG00000064607	ENST00000337018;ENST00000330854;ENST00000452918;ENST00000456085	T;T;T;T	0.16897	2.51;2.51;2.51;2.31	5.59	5.59	0.84812	.	0.242179	0.29459	N	0.012093	T	0.30039	0.0752	L	0.27053	0.805	0.39897	D	0.973859	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.79108	0.992;0.992;0.86	T	0.02966	-1.1088	10	0.49607	T	0.09	-13.3224	16.3093	0.82863	0.0:1.0:0.0:0.0	.	350;581;581	E7ETX7;A8K5G0;Q8IX01	.;.;SUGP2_HUMAN	Q	581;581;581;350	ENSP00000337926:R581Q;ENSP00000332373:R581Q;ENSP00000389380:R581Q;ENSP00000409603:R350Q	ENSP00000332373:R581Q	R	-	2	0	SUGP2	18991026	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.323000	0.59221	2.639000	0.89480	0.655000	0.94253	CGA		0.522	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392		15	27	0	0	0	0	15	27				
ZNF676	163223	broad.mit.edu	37	19	22363996	22363996	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr19:22363996C>A	ENST00000397121.2	-	3	840	c.523G>T	c.(523-525)Ggc>Tgc	p.G175C		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	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)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AAAGCTTTGCCATTTTCTTCA	0.338																																						uc002nqs.1		NA																	0					0						c.(523-525)GGC>TGC		zinc finger protein 676							55.0	57.0	56.0					19																	22363996		2007	4198	6205	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363996C>A	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.523G>T	19.37:g.22363996C>A	ENSP00000380310:p.Gly175Cys						p.G175C	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	841	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	175			C2H2-type 1; degenerate.		A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.523G>T	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	8.161	0.789604	0.16258	.	.	ENSG00000196109	ENST00000397121	T	0.22336	1.96	1.03	-0.41	0.12374	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.53786	0.1818	H	0.97465	4.01	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.41592	-0.9500	9	0.72032	D	0.01	.	4.1627	0.10291	0.2604:0.4827:0.2569:0.0	.	175	Q8N7Q3	ZN676_HUMAN	C	175	ENSP00000380310:G175C	ENSP00000380310:G175C	G	-	1	0	ZNF676	22155836	0.012000	0.17670	0.007000	0.13788	0.007000	0.05969	0.655000	0.24933	-0.433000	0.07286	-1.119000	0.02030	GGC		0.338	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		25	33	1	0	8.25e-16	1.05e-15	25	33				
ZNF536	9745	broad.mit.edu	37	19	30936598	30936598	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr19:30936598C>A	ENST00000355537.3	+	2	2276	c.2129C>A	c.(2128-2130)gCc>gAc	p.A710D		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	710					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACCGGGAGTGCCCAGGAGGAC	0.682																																						uc002nsu.1		NA																	0				ovary(7)|large_intestine(2)|skin(2)	11						c.(2128-2130)GCC>GAC		zinc finger protein 536							17.0	20.0	19.0					19																	30936598		2174	4243	6417	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30936598C>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2129C>A	19.37:g.30936598C>A	ENSP00000347730:p.Ala710Asp					ZNF536_uc010edd.1_Missense_Mutation_p.A710D	p.A710D	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	2267	+	Esophageal squamous(110;0.0834)		710					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.2129C>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.379218	0.61735	.	.	ENSG00000198597	ENST00000355537	T	0.09911	2.93	5.78	5.78	0.91487	.	0.053648	0.85682	D	0.000000	T	0.17704	0.0425	N	0.14661	0.345	0.50467	D	0.999876	D;D	0.71674	0.998;0.998	P;P	0.62014	0.897;0.897	T	0.11299	-1.0593	10	0.31617	T	0.26	-33.1049	20.0119	0.97458	0.0:1.0:0.0:0.0	.	710;710	A7E228;O15090	.;ZN536_HUMAN	D	710	ENSP00000347730:A710D	ENSP00000347730:A710D	A	+	2	0	ZNF536	35628438	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.436000	0.59948	2.706000	0.92434	0.655000	0.94253	GCC		0.682	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		4	60	1	0	0.00909568	0.00962971	4	60				
ZFP14	57677	broad.mit.edu	37	19	36853054	36853054	+	Silent	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr19:36853054C>T	ENST00000270001.7	-	3	211	c.96G>A	c.(94-96)agG>agA	p.R32R	ZFP14_ENST00000589280.1_Silent_p.R32R	NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	32	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					ACATTACATCCCTATATAAGT	0.403																																						uc002odx.1		NA																	0				ovary(1)	1						c.(94-96)AGG>AGA		zinc finger protein 14-like							115.0	106.0	109.0					19																	36853054		2203	4300	6503	SO:0001819	synonymous_variant	57677				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36853054C>T	AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"""Zinc fingers, C2H2-type"", ""-"""	29312	protein-coding gene	gene with protein product			"""zinc finger protein 14 homolog (mouse)"""			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.96G>A	19.37:g.36853054C>T						ZFP14_uc010xtd.1_Silent_p.R32R|ZFP14_uc010eex.1_Silent_p.R32R	p.R32R	NM_020917	NP_065968	Q9HCL3	ZFP14_HUMAN			2	189	-	Esophageal squamous(110;0.162)		32			KRAB.		A7MD23	Silent	SNP	ENST00000270001.7	37	c.96G>A	CCDS33002.1																																																																																				0.403	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452528.1	NM_020917		8	48	0	0	0	0	8	48				
ZFP36	7538	broad.mit.edu	37	19	39899199	39899199	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr19:39899199C>A	ENST00000248673.3	+	2	899	c.841C>A	c.(841-843)Cct>Act	p.P281T	MIR4530_ENST00000581459.1_RNA|ZFP36_ENST00000597629.1_Missense_Mutation_p.P287T	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	281					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGGATCCGACCCTGATGAATA	0.667																																					NSCLC(67;1164 1324 12056 21056 30097)	uc002olh.1		NA																	0				pancreas(1)	1						c.(841-843)CCT>ACT		zinc finger protein 36, C3H type, homolog							32.0	35.0	34.0					19																	39899199		2203	4300	6503	SO:0001583	missense	7538				positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding	g.chr19:39899199C>A	M63625	CCDS12534.1, CCDS12534.2	19q13.1	2012-11-27	2012-11-27			ENSG00000128016		"""RING-type (C3HC4) zinc fingers"""	12862	protein-coding gene	gene with protein product		190700	"""zinc finger protein 36, C3H type, homolog (mouse)"""			1699942	Standard	NM_003407		Approved	RNF162A, TIS11, G0S24, TTP, NUP475, tristetraprolin	uc002olh.2	P26651		ENST00000248673.3:c.841C>A	19.37:g.39899199C>A	ENSP00000248673:p.Pro281Thr					ZFP36_uc010egn.1_Silent_p.T153T	p.P281T	NM_003407	NP_003398	P26651	TTP_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		2	899	+	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		281					B2RA54	Missense_Mutation	SNP	ENST00000248673.3	37	c.841C>A		.	.	.	.	.	.	.	.	.	.	C	6.262	0.416442	0.11870	.	.	ENSG00000128016	ENST00000248673	T	0.17528	2.27	4.55	4.55	0.56014	.	0.258524	0.32093	U	0.006595	T	0.15522	0.0374	L	0.47716	1.5	0.28433	N	0.917188	P	0.51791	0.948	B	0.41332	0.354	T	0.14062	-1.0486	10	0.13853	T	0.58	-10.4093	14.8887	0.70590	0.0:1.0:0.0:0.0	.	281	P26651	TTP_HUMAN	T	281	ENSP00000248673:P281T	ENSP00000248673:P281T	P	+	1	0	ZFP36	44591039	0.950000	0.32346	0.843000	0.33291	0.077000	0.17291	3.462000	0.53042	2.387000	0.81309	0.442000	0.29010	CCT		0.667	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				26	82	1	0	7.42e-09	8.96e-09	26	82				
FCGBP	8857	broad.mit.edu	37	19	40367841	40367841	+	Silent	SNP	T	T	G			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr19:40367841T>G	ENST00000221347.6	-	29	13126	c.13119A>C	c.(13117-13119)gcA>gcC	p.A4373A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4373	TIL 10.					extracellular vesicular exosome (GO:0070062)		p.A4373A(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCGTAAGGGGTGCAGGGGACG	0.627																																						uc002omp.3		NA																	2	Substitution - coding silent(2)		lung(1)|kidney(1)	ovary(4)|skin(4)|central_nervous_system(1)	9						c.(13117-13119)GCA>GCC		Fc fragment of IgG binding protein precursor							17.0	32.0	27.0					19																	40367841		2132	4018	6150	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40367841T>G	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.13119A>C	19.37:g.40367841T>G							p.A4373A	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		29	13127	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4373			TIL 10.		O95784	Silent	SNP	ENST00000221347.6	37	c.13119A>C	CCDS12546.1																																																																																				0.627	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		14	33	0	0	0	0	14	33				
HIPK4	147746	broad.mit.edu	37	19	40886277	40886277	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr19:40886277G>A	ENST00000291823.2	-	3	1905	c.1621C>T	c.(1621-1623)Cga>Tga	p.R541*		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	541					histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			TCCTCATCTCGCTGCAGGATG	0.622																																						uc002onp.2		NA																	0				ovary(1)|stomach(1)	2						c.(1621-1623)CGA>TGA		homeodomain interacting protein kinase 4							52.0	48.0	49.0					19																	40886277		2203	4300	6503	SO:0001587	stop_gained	147746					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr19:40886277G>A	BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.1621C>T	19.37:g.40886277G>A	ENSP00000291823:p.Arg541*						p.R541*	NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)		3	1906	-			541					A8K863|Q96M54	Nonsense_Mutation	SNP	ENST00000291823.2	37	c.1621C>T	CCDS12555.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888537	0.91814	.	.	ENSG00000160396	ENST00000291823;ENST00000452139	.	.	.	4.74	2.52	0.30459	.	0.151003	0.30630	N	0.009219	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.2156	0.20653	0.0976:0.0:0.7205:0.1819	.	.	.	.	X	541;506	.	ENSP00000291823:R541X	R	-	1	2	HIPK4	45578117	0.984000	0.35163	0.992000	0.48379	0.164000	0.22412	1.587000	0.36622	0.496000	0.27904	0.313000	0.20887	CGA		0.622	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1	NM_144685		38	76	0	0	0	0	38	76				
RCN3	57333	broad.mit.edu	37	19	50046458	50046458	+	Silent	SNP	C	C	T	rs149927163		TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr19:50046458C>T	ENST00000270645.3	+	7	1422	c.975C>T	c.(973-975)caC>caT	p.H325H		NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	325						endoplasmic reticulum (GO:0005783)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		CCCGGCACCACGATGAGCTGT	0.647																																						uc002poj.2		NA																	0				ovary(1)	1						c.(973-975)CAC>CAT		reticulocalbin 3, EF-hand calcium binding domain		C		1,4405	2.1+/-5.4	0,1,2202	50.0	38.0	42.0		975	-6.2	0.5	19	dbSNP_134	42	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	RCN3	NM_020650.2		0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231		325/329	50046458	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	57333					endoplasmic reticulum lumen	calcium ion binding|protein binding	g.chr19:50046458C>T	AY195859	CCDS12771.1	19q13.33	2013-01-10				ENSG00000142552		"""EF-hand domain containing"""	21145	protein-coding gene	gene with protein product							Standard	NM_020650		Approved	RLP49	uc002poj.3	Q96D15		ENST00000270645.3:c.975C>T	19.37:g.50046458C>T							p.H325H	NM_020650	NP_065701	Q96D15	RCN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)	7	1422	+		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	325			Prevents secretion from ER (Potential).		Q9HBZ8	Silent	SNP	ENST00000270645.3	37	c.975C>T	CCDS12771.1																																																																																				0.647	RCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465261.1	NM_020650		10	27	0	0	0	0	10	27				
PRR12	57479	broad.mit.edu	37	19	50105149	50105149	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr19:50105149C>T	ENST00000418929.2	+	6	4759	c.4747C>T	c.(4747-4749)Cgt>Tgt	p.R1583C		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	762							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GTTCGTCATCCGTGCTGAGGA	0.612																																						uc002poo.3		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(4747-4749)CGT>TGT		proline rich 12							25.0	32.0	30.0					19																	50105149		2081	4210	6291	SO:0001583	missense	57479						DNA binding	g.chr19:50105149C>T	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.4747C>T	19.37:g.50105149C>T	ENSP00000394510:p.Arg1583Cys						p.R1583C	NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	6	4747	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	762					E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	c.4747C>T	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.429443	0.25726	.	.	ENSG00000126464	ENST00000418929;ENST00000246798;ENST00000314734	.	.	.	3.72	1.41	0.22369	.	0.156699	0.24111	N	0.041458	T	0.66117	0.2757	L	0.50333	1.59	0.52099	D	0.999945	D	0.89917	1.0	D	0.68765	0.96	T	0.65582	-0.6133	9	0.87932	D	0	-14.2605	10.6748	0.45778	0.3461:0.6539:0.0:0.0	.	1583	Q9ULL5-3	.	C	1583;763;763	.	ENSP00000246798:R763C	R	+	1	0	PRR12	54796961	0.199000	0.23386	0.838000	0.33150	0.140000	0.21249	0.491000	0.22419	0.206000	0.20587	0.305000	0.20034	CGT		0.612	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		4	32	0	0	0	0	4	32				
CD33	945	broad.mit.edu	37	19	51728815	51728815	+	Missense_Mutation	SNP	T	T	C	rs146181856	byFrequency	TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr19:51728815T>C	ENST00000262262.4	+	2	400	c.379T>C	c.(379-381)Tac>Cac	p.Y127H	CD33_ENST00000436584.2_Intron|CD33_ENST00000421133.2_Intron|CD33_ENST00000391796.3_Missense_Mutation_p.Y127H	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	127	Ig-like V-type.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	AAGTACCAAATACAGTTACAA	0.532													t|||	15	0.00299521	0.0008	0.0	5008	,	,		19366	0.0		0.0129	False		,,,				2504	0.001					uc002pwa.2		NA																	0					0						c.(379-381)TAC>CAC		CD33 antigen isoform 1 precursor	Gemtuzumab ozogamicin(DB00056)	T	,HIS/TYR,HIS/TYR	4,4402		0,4,2199	48.0	49.0	49.0		,379,379	1.9	0.0	19	dbSNP_134	49	17,8579		0,17,4281	no	intron,missense,missense	CD33	NM_001082618.1,NM_001177608.1,NM_001772.3	,83,83	0,21,6480	CC,CT,TT		0.1978,0.0908,0.1615	,benign,benign	,127/311,127/365	51728815	21,12981	2203	4298	6501	SO:0001583	missense	945				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	g.chr19:51728815T>C	M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1659	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 3"""	159590	"""CD33 antigen (gp67)"""			3139766, 9465907	Standard	NM_001772		Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.379T>C	19.37:g.51728815T>C	ENSP00000262262:p.Tyr127His					CD33_uc010eos.1_Missense_Mutation_p.Y127H|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank	p.Y127H	NM_001772	NP_001763	P20138	CD33_HUMAN		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	2	419	+		all_neural(266;0.0199)	127			Extracellular (Potential).|Ig-like V-type.		B4E3P8|C9JEN7|F8WAL2|Q8TD24	Missense_Mutation	SNP	ENST00000262262.4	37	c.379T>C	CCDS33084.1	12	0.005494505494505495	0	0.0	0	0.0	0	0.0	12	0.0158311345646438	.	8.820	0.937407	0.18206	9.08E-4	0.001978	ENSG00000105383	ENST00000262262;ENST00000391796	T;T	0.66638	-0.22;1.99	2.93	1.9	0.25705	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.43055	0.1230	L	0.51914	1.62	0.09310	N	1	B;B	0.23540	0.018;0.087	B;B	0.32864	0.02;0.154	T	0.50508	-0.8820	9	0.49607	T	0.09	.	4.8198	0.13385	0.0:0.1523:0.0:0.8477	.	127;127	F8WAL2;P20138	.;CD33_HUMAN	H	127	ENSP00000262262:Y127H;ENSP00000375673:Y127H	ENSP00000262262:Y127H	Y	+	1	0	CD33	56420627	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.894000	0.28350	0.354000	0.24105	0.482000	0.46254	TAC		0.532	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464199.2	NM_001772		53	44	0	0	0	0	53	44				
NLRP5	126206	broad.mit.edu	37	19	56539846	56539846	+	Silent	SNP	C	C	T	rs149649207	byFrequency	TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr19:56539846C>T	ENST00000390649.3	+	7	2247	c.2247C>T	c.(2245-2247)tcC>tcT	p.S749S		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	749					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)	p.S749S(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GAGATGAGTCCGCTGAGGCAT	0.517													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18677	0.0		0.0	False		,,,				2504	0.0					uc002qmj.2		NA																	1	Substitution - coding silent(1)		endometrium(1)	ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7						c.(2245-2247)TCC>TCT		NACHT, LRR and PYD containing protein 5		C		0,4058		0,0,2029	146.0	146.0	146.0		2247	-5.4	0.0	19	dbSNP_134	146	1,8397		0,1,4198	no	coding-synonymous	NLRP5	NM_153447.4		0,1,6227	TT,TC,CC		0.0119,0.0,0.0080		749/1201	56539846	1,12455	2029	4199	6228	SO:0001819	synonymous_variant	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539846C>T	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2247C>T	19.37:g.56539846C>T						NLRP5_uc002qmi.2_Silent_p.S730S	p.S749S	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	2247	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	749			LRR 2.		A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	c.2247C>T	CCDS12938.1																																																																																				0.517	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		19	290	0	0	0	0	19	290				
WDR35	57539	broad.mit.edu	37	2	20138033	20138033	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:20138033G>A	ENST00000345530.3	-	19	2204	c.2089C>T	c.(2089-2091)Cga>Tga	p.R697*	WDR35_ENST00000281405.4_Nonsense_Mutation_p.R686*|WDR35_ENST00000416055.2_Nonsense_Mutation_p.R262*	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	697					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACCAAAGTCGGGGGTGTGGA	0.438																																						uc002rdi.2		NA																	0				ovary(1)	1						c.(2089-2091)CGA>TGA		WD repeat domain 35 isoform 1							115.0	116.0	116.0					2																	20138033		2203	4300	6503	SO:0001587	stop_gained	57539							g.chr2:20138033G>A	AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.2089C>T	2.37:g.20138033G>A	ENSP00000314444:p.Arg697*					WDR35_uc002rdj.2_Nonsense_Mutation_p.R686*|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_Nonsense_Mutation_p.R262*|WDR35_uc002rdk.3_Nonsense_Mutation_p.R262*	p.R697*	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN			19	2197	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		697					B3KVI5|Q4ZG01|Q8NE11	Nonsense_Mutation	SNP	ENST00000345530.3	37	c.2089C>T	CCDS33152.1	.	.	.	.	.	.	.	.	.	.	G	38	7.227986	0.98150	.	.	ENSG00000118965	ENST00000345530;ENST00000281405;ENST00000416055;ENST00000453014	.	.	.	5.59	4.69	0.59074	.	0.054417	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.7003	12.2282	0.54472	0.0:0.0:0.5677:0.4323	.	.	.	.	X	697;686;262;232	.	ENSP00000281405:R686X	R	-	1	2	WDR35	20001514	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.761000	0.55242	1.326000	0.45319	0.591000	0.81541	CGA		0.438	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779		22	122	0	0	0	0	22	122				
C2orf16	84226	broad.mit.edu	37	2	27804830	27804830	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:27804830C>A	ENST00000408964.2	+	1	5442	c.5391C>A	c.(5389-5391)agC>agA	p.S1797R	ZNF512_ENST00000379717.1_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000556601.1_5'Flank|ZNF512_ENST00000413371.2_5'Flank|AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1797	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CTGAGAGAAGCCATCACAGTC	0.547																																						uc002rkz.3		NA																	0				large_intestine(1)	1						c.(5389-5391)AGC>AGA		hypothetical protein LOC84226							151.0	154.0	153.0					2																	27804830		1924	4132	6056	SO:0001583	missense	84226							g.chr2:27804830C>A	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.5391C>A	2.37:g.27804830C>A	ENSP00000386190:p.Ser1797Arg					ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank	p.S1797R	NM_032266	NP_115642	Q68DN1	CB016_HUMAN			1	5442	+	Acute lymphoblastic leukemia(172;0.155)		1797			27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.|21.		B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.5391C>A	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	c	1.963	-0.438313	0.04636	.	.	ENSG00000221843	ENST00000408964	T	0.05139	3.49	3.83	-7.66	0.01277	.	.	.	.	.	T	0.03305	0.0096	L	0.27053	0.805	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.39231	-0.9624	9	0.08179	T	0.78	.	7.6826	0.28522	0.504:0.3101:0.0:0.1858	.	1797	Q68DN1	CB016_HUMAN	R	1797	ENSP00000386190:S1797R	ENSP00000386190:S1797R	S	+	3	2	C2orf16	27658334	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.281000	0.00135	-3.733000	0.00114	-2.309000	0.00256	AGC		0.547	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		23	322	1	0	8.53e-09	1.03e-08	23	322				
YPEL5	51646	broad.mit.edu	37	2	30379615	30379615	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:30379615C>T	ENST00000379520.3	+	4	602	c.98C>T	c.(97-99)aCt>aTt	p.T33I	YPEL5_ENST00000379519.3_Missense_Mutation_p.T33I|YPEL5_ENST00000495673.1_3'UTR|YPEL5_ENST00000402003.3_Missense_Mutation_p.T33I|YPEL5_ENST00000402708.1_Missense_Mutation_p.T33I|YPEL5_ENST00000261353.4_Missense_Mutation_p.T33I	NM_001127401.1	NP_001120873.1	P62699	YPEL5_HUMAN	yippee-like 5 (Drosophila)	33										NS(1)|endometrium(1)|kidney(1)|lung(3)|prostate(1)	7	Acute lymphoblastic leukemia(172;0.155)					CTCATCTCCACTCGTTTCACA	0.438																																						uc002rna.3		NA																	0					0						c.(97-99)ACT>ATT		yippee-like 5							111.0	113.0	112.0					2																	30379615		2203	4300	6503	SO:0001583	missense	51646						peptide-methionine-(S)-S-oxide reductase activity	g.chr2:30379615C>T	AF135161	CCDS1771.1	2p23	2004-06-28			ENSG00000119801	ENSG00000119801			18329	protein-coding gene	gene with protein product		609726					Standard	NM_016061		Approved	CGI-127	uc002rmz.4	P62699	OTTHUMG00000097839	ENST00000379520.3:c.98C>T	2.37:g.30379615C>T	ENSP00000368835:p.Thr33Ile					YPEL5_uc002rnb.3_Missense_Mutation_p.T33I|YPEL5_uc002rnc.3_Missense_Mutation_p.T33I|YPEL5_uc002rmz.3_Missense_Mutation_p.T33I|YPEL5_uc010ezn.2_Intron|YPEL5_uc002rnd.2_Missense_Mutation_p.T33I	p.T33I	NM_001127401	NP_001120873	P62699	YPEL5_HUMAN			4	659	+	Acute lymphoblastic leukemia(172;0.155)		33					D6W568|Q65Z97|Q8R174|Q9D6M1|Q9UMX7|Q9Y3C9	Missense_Mutation	SNP	ENST00000379520.3	37	c.98C>T	CCDS1771.1	.	.	.	.	.	.	.	.	.	.	.	29.6	5.018514	0.93404	.	.	ENSG00000119801	ENST00000379520;ENST00000379519;ENST00000261353;ENST00000402003;ENST00000402708	.	.	.	6.02	6.02	0.97574	Methionine sulphoxide reductase B (1);	0.000000	0.85682	D	0.000000	D	0.84097	0.5397	M	0.88570	2.965	0.80722	D	1	D	0.53151	0.958	P	0.60789	0.879	D	0.85471	0.1173	9	0.62326	D	0.03	-0.9637	19.5289	0.95219	0.0:1.0:0.0:0.0	.	33	P62699	YPEL5_HUMAN	I	33	.	ENSP00000261353:T33I	T	+	2	0	YPEL5	30233119	1.000000	0.71417	0.997000	0.53966	0.648000	0.38561	7.818000	0.86416	2.865000	0.98341	0.655000	0.94253	ACT		0.438	YPEL5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215128.1	NM_016061		20	131	0	0	0	0	20	131				
LRPPRC	10128	broad.mit.edu	37	2	44145429	44145429	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:44145429T>A	ENST00000260665.7	-	28	3062	c.3005A>T	c.(3004-3006)gAg>gTg	p.E1002V		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1002					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTGGTTACCCTCTCTAAGGAT	0.368																																						uc002rtr.2		NA																	0				ovary(2)|skin(1)	3						c.(3004-3006)GAG>GTG		leucine-rich PPR motif-containing protein							111.0	121.0	118.0					2																	44145429		2203	4300	6503	SO:0001583	missense	10128				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding	g.chr2:44145429T>A	M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.3005A>T	2.37:g.44145429T>A	ENSP00000260665:p.Glu1002Val					LRPPRC_uc010yob.1_Missense_Mutation_p.E902V	p.E1002V	NM_133259	NP_573566	P42704	LPPRC_HUMAN			28	3063	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	1002					A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	ENST00000260665.7	37	c.3005A>T	CCDS33189.1	.	.	.	.	.	.	.	.	.	.	T	11.20	1.568352	0.28003	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	T	0.13196	2.61	6.02	4.85	0.62838	.	0.468118	0.25035	N	0.033655	T	0.06781	0.0173	N	0.08118	0	0.58432	D	0.999999	B;B	0.22851	0.076;0.012	B;B	0.23574	0.047;0.01	T	0.35101	-0.9802	10	0.26408	T	0.33	-10.611	7.2921	0.26372	0.0:0.0701:0.2904:0.6395	.	902;1002	F5H4J6;P42704	.;LPPRC_HUMAN	V	902;1002	ENSP00000260665:E1002V	ENSP00000260665:E1002V	E	-	2	0	LRPPRC	43998933	0.980000	0.34600	0.625000	0.29200	0.709000	0.40893	0.680000	0.25306	1.084000	0.41184	0.533000	0.62120	GAG		0.368	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		14	43	0	0	0	0	14	43				
CCDC85A	114800	broad.mit.edu	37	2	56419698	56419698	+	Silent	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:56419698G>A	ENST00000407595.2	+	2	865	c.363G>A	c.(361-363)agG>agA	p.R121R	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	121										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AAGGCAAGAGGGTGTCTCGGG	0.542																																						uc002rzn.2		NA																	0				breast(3)|ovary(2)	5						c.(361-363)AGG>AGA		coiled-coil domain containing 85A							70.0	79.0	76.0					2																	56419698		1998	4174	6172	SO:0001819	synonymous_variant	114800							g.chr2:56419698G>A	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.363G>A	2.37:g.56419698G>A							p.R121R	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		2	865	+			121						Silent	SNP	ENST00000407595.2	37	c.363G>A	CCDS46290.1																																																																																				0.542	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			18	60	0	0	0	0	18	60				
APLF	200558	broad.mit.edu	37	2	68772424	68772424	+	Silent	SNP	C	C	G			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:68772424C>G	ENST00000303795.4	+	8	1437	c.1266C>G	c.(1264-1266)ccC>ccG	p.P422P	APLF_ENST00000471727.1_3'UTR	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	422					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						CTGAATGTCCCTATGGACCAT	0.423																																						uc002sep.2		NA																	0				ovary(2)	2						c.(1264-1266)CCC>CCG		aprataxin and PNKP like factor							158.0	149.0	152.0					2																	68772424		2203	4300	6503	SO:0001819	synonymous_variant	200558				double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding	g.chr2:68772424C>G	BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"""XRCC1-interacting protein 1"", ""zinc finger, CX5CX6HX5H motif containing 1"""	611035	"""chromosome 2 open reading frame 13"""	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.1266C>G	2.37:g.68772424C>G						APLF_uc002seq.1_RNA|APLF_uc010fdf.2_Silent_p.P398P|APLF_uc002ser.1_Silent_p.P153P	p.P422P	NM_173545	NP_775816	Q8IW19	APLF_HUMAN			8	1439	+			422			PBZ-type 2.		A8K476|Q53P47|Q53PB9|Q53QU0	Silent	SNP	ENST00000303795.4	37	c.1266C>G	CCDS1888.1																																																																																				0.423	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251759.1	NM_173545		6	47	0	0	0	0	6	47				
ST3GAL5	8869	broad.mit.edu	37	2	86075251	86075251	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:86075251A>T	ENST00000377332.3	-	4	503	c.395T>A	c.(394-396)tTa>tAa	p.L132*	ST3GAL5_ENST00000393808.3_Nonsense_Mutation_p.L109*|ST3GAL5_ENST00000393805.1_Nonsense_Mutation_p.L104*	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	132					carbohydrate metabolic process (GO:0005975)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	lactosylceramide alpha-2,3-sialyltransferase activity (GO:0047291)|neolactotetraosylceramide alpha-2,3-sialyltransferase activity (GO:0004513)|sialyltransferase activity (GO:0008373)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						GTGCTCAAATAACAGCGCCAT	0.483																																						uc002sqq.1		NA																	0					0						c.(394-396)TTA>TAA		ST3 beta-galactoside alpha-2,3-sialyltransferase							291.0	294.0	293.0					2																	86075251		2203	4300	6503	SO:0001587	stop_gained	8869				ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity	g.chr2:86075251A>T	AB018356	CCDS1986.2, CCDS42705.1	2p11.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000115525	ENSG00000115525	2.4.99.9	"""Sialyltransferases"""	10872	protein-coding gene	gene with protein product		604402	"""sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase; GM3 synthase)"""	SIAT9		9822625	Standard	NM_003896		Approved	ST3GalV, SIATGM3S	uc002sqq.1	Q9UNP4	OTTHUMG00000130171	ENST00000377332.3:c.395T>A	2.37:g.86075251A>T	ENSP00000366549:p.Leu132*					ST3GAL5_uc010fgq.1_Nonsense_Mutation_p.L4*|ST3GAL5_uc002sqp.1_Nonsense_Mutation_p.L109*	p.L132*	NM_003896	NP_003887	Q9UNP4	SIAT9_HUMAN			4	524	-			132			Lumenal (Potential).		B3KM82|D6W5L9|O94902|Q53QU1|Q6NZX4|Q6YFL1	Nonsense_Mutation	SNP	ENST00000377332.3	37	c.395T>A	CCDS1986.2	.	.	.	.	.	.	.	.	.	.	A	14.57	2.573910	0.45902	.	.	ENSG00000115525	ENST00000393808;ENST00000393805;ENST00000377332;ENST00000455892	.	.	.	5.06	5.06	0.68205	.	0.287888	0.27384	N	0.019614	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.7	14.2944	0.66302	1.0:0.0:0.0:0.0	.	.	.	.	X	109;104;132;104	.	ENSP00000366549:L132X	L	-	2	0	ST3GAL5	85928762	0.972000	0.33761	0.014000	0.15608	0.136000	0.21042	6.029000	0.70895	2.036000	0.60181	0.528000	0.53228	TTA		0.483	ST3GAL5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252486.1	NM_003896		135	222	0	0	0	0	135	222				
MYO7B	4648	broad.mit.edu	37	2	128394185	128394185	+	Silent	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:128394185C>T	ENST00000409816.2	+	44	6143	c.6111C>T	c.(6109-6111)ctC>ctT	p.L2037L	LIMS2_ENST00000494613.1_5'Flank|MYO7B_ENST00000389524.4_Silent_p.L2038L|MYO7B_ENST00000428314.1_Silent_p.L2037L|MYO7B_ENST00000409090.1_Silent_p.L890L			Q6PIF6	MYO7B_HUMAN	myosin VIIB	2037	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)		GGGTTCTGCTCATCCACCCCA	0.652																																						uc002top.2		NA																	0				ovary(1)|pancreas(1)	2						c.(6109-6111)CTC>CTT		myosin VIIB							67.0	69.0	68.0					2																	128394185		2121	4220	6341	SO:0001819	synonymous_variant	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128394185C>T		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.6111C>T	2.37:g.128394185C>T						MYO7B_uc002tos.1_Silent_p.L147L|MYO7B_uc002tot.2_Silent_p.L147L	p.L2037L	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	45	6164	+	Colorectal(110;0.1)		2037			FERM 2.		Q14786|Q8TEE1	Silent	SNP	ENST00000409816.2	37	c.6111C>T	CCDS46405.1																																																																																				0.652	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		6	12	0	0	0	0	6	12				
AMER3	205147	broad.mit.edu	37	2	131521973	131521973	+	Silent	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:131521973G>A	ENST00000423981.1	+	2	2438	c.2328G>A	c.(2326-2328)caG>caA	p.Q776Q	AMER3_ENST00000321420.4_Silent_p.Q776Q	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	776					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										AGCCCTTGCAGCTCAGCACAG	0.677																																						uc002trw.2		NA																	0				pancreas(2)|ovary(1)	3						c.(2326-2328)CAG>CAA		hypothetical protein LOC205147							23.0	23.0	23.0					2																	131521973		2202	4300	6502	SO:0001819	synonymous_variant	205147							g.chr2:131521973G>A	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.2328G>A	2.37:g.131521973G>A						FAM123C_uc010fmv.2_Silent_p.Q776Q|FAM123C_uc010fms.1_Silent_p.Q776Q|FAM123C_uc010fmt.1_Silent_p.Q776Q|FAM123C_uc010fmu.1_Silent_p.Q776Q	p.Q776Q	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	2518	+	Colorectal(110;0.1)		776					B7ZLH6	Silent	SNP	ENST00000423981.1	37	c.2328G>A	CCDS2164.1																																																																																				0.677	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		7	18	0	0	0	0	7	18				
LRP1B	53353	broad.mit.edu	37	2	141115638	141115638	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:141115638A>C	ENST00000389484.3	-	74	12276	c.11305T>G	c.(11305-11307)Tgt>Ggt	p.C3769G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3769	LDL-receptor class A 32. {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)		TTATTACTACAAGCAAACTCA	0.388										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.(11305-11307)TGT>GGT		low density lipoprotein-related protein 1B							161.0	151.0	154.0					2																	141115638		2203	4299	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141115638A>C	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.11305T>G	2.37:g.141115638A>C	ENSP00000374135:p.Cys3769Gly	TSP Lung(27;0.18)					p.C3769G	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)	74	12277	-		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)	3769			Extracellular (Potential).|LDL-receptor class A 32.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.11305T>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.042154	0.75732	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.99919	-8.0	5.75	5.75	0.90469	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.99945	0.9976	H	0.97214	3.96	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96022	0.9010	10	0.66056	D	0.02	.	16.0605	0.80836	1.0:0.0:0.0:0.0	.	3769	Q9NZR2	LRP1B_HUMAN	G	3769;3707	ENSP00000374135:C3769G	ENSP00000374135:C3769G	C	-	1	0	LRP1B	140832108	1.000000	0.71417	0.946000	0.38457	0.983000	0.72400	8.962000	0.93254	2.193000	0.70182	0.528000	0.53228	TGT		0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		26	45	0	0	0	0	26	45				
NEB	4703	broad.mit.edu	37	2	152520126	152520126	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:152520126T>C	ENST00000172853.10	-	45	5846	c.5699A>G	c.(5698-5700)tAc>tGc	p.Y1900C	NEB_ENST00000427231.2_Missense_Mutation_p.Y1900C|NEB_ENST00000604864.1_Missense_Mutation_p.Y1900C|NEB_ENST00000603639.1_Missense_Mutation_p.Y1900C|NEB_ENST00000409198.1_Missense_Mutation_p.Y1900C|NEB_ENST00000397345.3_Missense_Mutation_p.Y1900C			P20929	NEBU_HUMAN	nebulin	1900					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AAGCATGTTGTAGGTATGGAT	0.483																																						uc010fnx.2		NA																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(5698-5700)TAC>TGC		nebulin isoform 3							186.0	167.0	173.0					2																	152520126		2061	4202	6263	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152520126T>C	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.5699A>G	2.37:g.152520126T>C	ENSP00000172853:p.Tyr1900Cys						p.Y1900C	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	45	5890	-			1900			Nebulin 50.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.5699A>G		.	.	.	.	.	.	.	.	.	.	T	20.0	3.930696	0.73327	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.61	5.61	0.85477	.	0.267836	0.38381	N	0.001704	T	0.66626	0.2808	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.70299	-0.4910	10	0.56958	D	0.05	.	16.1014	0.81175	0.0:0.0:0.0:1.0	.	1900	P20929	NEBU_HUMAN	C	1900	ENSP00000386259:Y1900C;ENSP00000380505:Y1900C;ENSP00000416578:Y1900C;ENSP00000172853:Y1900C	ENSP00000172853:Y1900C	Y	-	2	0	NEB	152228372	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.954000	0.63631	2.266000	0.75297	0.454000	0.30748	TAC		0.483	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		8	35	0	0	0	0	8	35				
TANC1	85461	broad.mit.edu	37	2	160028631	160028631	+	Splice_Site	SNP	G	G	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:160028631G>T	ENST00000263635.6	+	11	1588		c.e11-1		TANC1_ENST00000454300.1_Splice_Site	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1						dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TTTCTCTGCAGCCTCTGACCC	0.438																																						uc002uag.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.e11-1		tetratricopeptide repeat, ankyrin repeat and							106.0	108.0	107.0					2																	160028631		1965	4144	6109	SO:0001630	splice_region_variant	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160028631G>T	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.1352-1G>T	2.37:g.160028631G>T						TANC1_uc010fol.1_Splice_Site_p.T345_splice|TANC1_uc010zcm.1_Splice_Site_p.T443_splice|TANC1_uc010fom.1_Splice_Site_p.T257_splice	p.T451_splice	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN			11	1626	+								C9JD88|Q49AI8	Splice_Site	SNP	ENST00000263635.6	37	c.1352_splice	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120595	0.56613	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5256	0.87799	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TANC1	159736877	0.998000	0.40836	0.884000	0.34674	0.437000	0.31866	3.441000	0.52893	2.669000	0.90835	0.591000	0.81541	.		0.438	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1		Intron	27	52	1	0	7.26e-15	9.1e-15	27	52				
TTN	7273	broad.mit.edu	37	2	179604400	179604400	+	Silent	SNP	A	A	G			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:179604400A>G	ENST00000591111.1	-	46	12833	c.12609T>C	c.(12607-12609)acT>acC	p.T4203T	TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Silent_p.T4282T|TTN_ENST00000589042.1_Silent_p.T4520T|TTN_ENST00000460472.2_Silent_p.T4157T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.T4349T|TTN-AS1_ENST00000590773.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0					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)			CTTCTGGTTCAGTAATGGGTT	0.393																																						uc010zfh.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.(13045-13047)ACT>ACC		titin isoform novex-2							110.0	111.0	111.0					2																	179604400		1859	4102	5961	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179604400A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.12609T>C	2.37:g.179604400A>G						TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Silent_p.T4282T|TTN_uc010zfj.1_Silent_p.T4157T|TTN_uc002umz.1_Intron	p.T4349T	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	13271	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.13047T>C																																																																																					0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		40	106	0	0	0	0	40	106				
AC010731.4	0	broad.mit.edu	37	2	207509209	207509209	+	lincRNA	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:207509209G>A	ENST00000543490.1	+	0	424																											AGTCATCTGAGAACTTGAAGC	0.493																																						uc010fuh.1		NA																	0					0						c.(247-249)GAG>GAA		hypothetical protein LOC200726							82.0	82.0	82.0					2																	207509209		1930	4143	6073			200726							g.chr2:207509209G>A																													2.37:g.207509209G>A							p.E83E	NM_001102659	NP_001096129				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.115)|Lung(261;0.133)	2	424	+									Silent	SNP	ENST00000543490.1	37	c.249G>A																																																																																					0.493	AC010731.4-201	KNOWN	basic	lincRNA	lincRNA				10	25	0	0	0	0	10	25				
XRCC5	7520	broad.mit.edu	37	2	217002844	217002844	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:217002844A>C	ENST00000392133.3	+	14	1745	c.1284A>C	c.(1282-1284)gaA>gaC	p.E428D	XRCC5_ENST00000471649.1_3'UTR|XRCC5_ENST00000392132.2_Missense_Mutation_p.E428D			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	428	Ku.				brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		CTTTCATGGAAGACTTGCGGC	0.368								Non-homologous end-joining																														uc002vfy.2		NA																	0				lung(1)|kidney(1)	2						c.(1282-1284)GAA>GAC	Direct_reversal_of_damage|NHEJ	ATP-dependent DNA helicase II							110.0	106.0	108.0					2																	217002844		2203	4300	6503	SO:0001583	missense	7520				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding	g.chr2:217002844A>C	AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"""Ku autoantigen, 80kDa"""	194364	"""X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"""			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.1284A>C	2.37:g.217002844A>C	ENSP00000375978:p.Glu428Asp					XRCC5_uc002vfz.2_Missense_Mutation_p.E314D	p.E428D	NM_021141	NP_066964	P13010	XRCC5_HUMAN		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)	12	1424	+		Renal(323;0.0328)	428			Ku.		A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Missense_Mutation	SNP	ENST00000392133.3	37	c.1284A>C	CCDS2402.1	.	.	.	.	.	.	.	.	.	.	A	17.38	3.374564	0.61735	.	.	ENSG00000079246	ENST00000392133;ENST00000392132	T;T	0.35421	1.31;1.31	5.55	4.4	0.53042	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);DNA helicase, ATP-dependent, Ku type (2);	0.000000	0.85682	D	0.000000	T	0.48333	0.1494	M	0.67397	2.05	0.58432	D	0.999999	D	0.65815	0.995	D	0.66196	0.942	T	0.51012	-0.8759	10	0.09843	T	0.71	.	8.0675	0.30669	0.845:0.0:0.155:0.0	.	428	P13010	XRCC5_HUMAN	D	428	ENSP00000375978:E428D;ENSP00000375977:E428D	ENSP00000375977:E428D	E	+	3	2	XRCC5	216711089	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.965000	0.40471	0.940000	0.37473	-0.256000	0.11100	GAA		0.368	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256675.3	NM_021141		11	15	0	0	0	0	11	15				
OBSL1	23363	broad.mit.edu	37	2	220417282	220417282	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:220417282C>T	ENST00000404537.1	-	18	5340	c.5284G>A	c.(5284-5286)Gcc>Acc	p.A1762T	OBSL1_ENST00000373876.1_Missense_Mutation_p.A1670T|OBSL1_ENST00000265318.4_3'UTR	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1762					cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CGGACGCGGGCTCCGGGTCTC	0.731																																						uc010fwk.2		NA																	0					0						c.(5284-5286)GCC>ACC		obscurin-like 1							8.0	12.0	11.0					2																	220417282		1921	4103	6024	SO:0001583	missense	23363				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	g.chr2:220417282C>T	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.5284G>A	2.37:g.220417282C>T	ENSP00000385636:p.Ala1762Thr						p.A1762T	NM_015311	NP_056126	O75147	OBSL1_HUMAN		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	18	5341	-		Renal(207;0.0376)	1762					A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	c.5284G>A	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.871826	0.51695	.	.	ENSG00000124006	ENST00000404537;ENST00000373876	T;T	0.41065	1.01;1.01	4.61	3.73	0.42828	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.30572	0.0769	N	0.24115	0.695	0.80722	D	1	B	0.30114	0.269	B	0.38296	0.27	T	0.05273	-1.0895	9	0.17369	T	0.5	.	9.6674	0.39992	0.0:0.9019:0.0:0.0981	.	1762	O75147	OBSL1_HUMAN	T	1762;1670	ENSP00000385636:A1762T;ENSP00000362983:A1670T	ENSP00000362983:A1670T	A	-	1	0	OBSL1	220125526	0.000000	0.05858	0.999000	0.59377	0.890000	0.51754	0.177000	0.16801	1.165000	0.42670	0.655000	0.94253	GCC		0.731	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			6	15	0	0	0	0	6	15				
OBSL1	23363	broad.mit.edu	37	2	220424011	220424011	+	Silent	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:220424011C>T	ENST00000404537.1	-	9	3218	c.3162G>A	c.(3160-3162)gaG>gaA	p.E1054E	OBSL1_ENST00000373876.1_Silent_p.E1054E|OBSL1_ENST00000603926.1_Silent_p.E1054E|OBSL1_ENST00000265317.5_Silent_p.E45E|OBSL1_ENST00000265318.4_Silent_p.E1054E|RP11-256I23.2_ENST00000597192.1_RNA	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1054	Ig-like 8.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CGCCCCCGTCCTCGGGCTGAG	0.617																																						uc010fwk.2		NA																	0					0						c.(3160-3162)GAG>GAA		obscurin-like 1							106.0	120.0	116.0					2																	220424011		2191	4269	6460	SO:0001819	synonymous_variant	23363				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	g.chr2:220424011C>T	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.3162G>A	2.37:g.220424011C>T						OBSL1_uc002vmh.1_Silent_p.E45E|OBSL1_uc010zli.1_Silent_p.E45E|OBSL1_uc010fwl.1_Silent_p.E529E	p.E1054E	NM_015311	NP_056126	O75147	OBSL1_HUMAN		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	9	3219	-		Renal(207;0.0376)	1054			Ig-like 8.		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Silent	SNP	ENST00000404537.1	37	c.3162G>A	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	C	0.803	-0.754618	0.03041	.	.	ENSG00000124006	ENST00000456147	.	.	.	4.34	3.46	0.39613	.	.	.	.	.	T	0.60170	0.2248	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56974	-0.7890	4	.	.	.	.	10.4995	0.44798	0.0:0.8375:0.0:0.1625	.	.	.	.	K	48	.	.	R	-	2	0	OBSL1	220132255	0.001000	0.12720	0.133000	0.22050	0.179000	0.23085	0.197000	0.17197	1.057000	0.40506	0.491000	0.48974	AGG		0.617	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			31	109	0	0	0	0	31	109				
SLC19A3	80704	broad.mit.edu	37	2	228563937	228563937	+	Missense_Mutation	SNP	G	G	A	rs144223086	byFrequency	TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:228563937G>A	ENST00000258403.3	-	3	565	c.494C>T	c.(493-495)gCg>gTg	p.A165V	SLC19A3_ENST00000541617.1_Missense_Mutation_p.A161V|SLC19A3_ENST00000409287.1_Intron	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	165					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	CGACATGTTCGCCAGGGATAC	0.542																																						uc002vpi.2		NA																	0				ovary(2)	2						c.(493-495)GCG>GTG		solute carrier family 19, member 3	L-Cysteine(DB00151)						113.0	109.0	110.0					2																	228563937		2203	4300	6503	SO:0001583	missense	80704				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	g.chr2:228563937G>A	AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"""Solute carriers"""	16266	protein-coding gene	gene with protein product	"""thiamine transporter 2"""	606152	"""solute carrier family 19, member 3"""			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.494C>T	2.37:g.228563937G>A	ENSP00000258403:p.Ala165Val					SLC19A3_uc002vpj.2_RNA|SLC19A3_uc010zlv.1_Missense_Mutation_p.A161V	p.A165V	NM_025243	NP_079519	Q9BZV2	S19A3_HUMAN		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	3	583	-		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)	165			Helical; (Potential).			Missense_Mutation	SNP	ENST00000258403.3	37	c.494C>T	CCDS2468.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.860486	0.51482	.	.	ENSG00000135917	ENST00000258403;ENST00000541617	D;D	0.86366	-2.11;-2.11	5.76	2.93	0.34026	Major facilitator superfamily domain, general substrate transporter (1);	0.393600	0.30820	N	0.008809	D	0.88325	0.6406	M	0.80982	2.52	0.39669	D	0.970731	B;D	0.54397	0.125;0.966	B;P	0.49953	0.057;0.627	D	0.84845	0.0810	10	0.25751	T	0.34	-9.8029	9.3267	0.37997	0.1321:0.1199:0.748:0.0	.	161;165	F5H2M8;Q9BZV2	.;S19A3_HUMAN	V	165;161	ENSP00000258403:A165V;ENSP00000445519:A161V	ENSP00000258403:A165V	A	-	2	0	SLC19A3	228272181	0.037000	0.19845	0.285000	0.24819	0.081000	0.17604	1.234000	0.32660	0.329000	0.23460	0.650000	0.86243	GCG		0.542	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256894.1			48	90	0	0	0	0	48	90				
ALPI	248	broad.mit.edu	37	2	233321697	233321697	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:233321697G>C	ENST00000295463.3	+	4	466	c.389G>C	c.(388-390)gGc>gCc	p.G130A		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	130					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		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;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CAGACCATCGGCTTGAGTGCA	0.617																																						uc002vst.3		NA																	0				central_nervous_system(1)	1						c.(388-390)GGC>GCC		intestinal alkaline phosphatase precursor							67.0	52.0	57.0					2																	233321697		2203	4300	6503	SO:0001583	missense	248				phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding	g.chr2:233321697G>C	M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.389G>C	2.37:g.233321697G>C	ENSP00000295463:p.Gly130Ala					ALPI_uc002vsu.3_Missense_Mutation_p.G41A	p.G130A	NM_001631	NP_001622	P09923	PPBI_HUMAN		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)	4	466	+		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)	130					B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Missense_Mutation	SNP	ENST00000295463.3	37	c.389G>C	CCDS2492.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469817	0.63625	.	.	ENSG00000163295	ENST00000295463	D	0.97941	-4.62	5.35	5.35	0.76521	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98651	0.9548	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99712	1.1007	10	0.72032	D	0.01	.	18.4335	0.90634	0.0:0.0:1.0:0.0	.	130	P09923	PPBI_HUMAN	A	130	ENSP00000295463:G130A	ENSP00000295463:G130A	G	+	2	0	ALPI	233029941	1.000000	0.71417	0.758000	0.31321	0.039000	0.13416	9.853000	0.99521	2.677000	0.91161	0.561000	0.74099	GGC		0.617	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257035.2	NM_001631		3	34	0	0	0	0	3	34				
SH3BP4	23677	broad.mit.edu	37	2	235949783	235949783	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:235949783A>G	ENST00000409212.1	+	4	877	c.370A>G	c.(370-372)Atg>Gtg	p.M124V	SH3BP4_ENST00000392011.2_Missense_Mutation_p.M124V|SH3BP4_ENST00000344528.4_Missense_Mutation_p.M124V			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	124					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		TGACAGCGGTATGATTGATAA	0.527																																						uc002vvp.2		NA																	0				skin(3)|ovary(1)	4						c.(370-372)ATG>GTG		SH3-domain binding protein 4							119.0	105.0	109.0					2																	235949783		2203	4300	6503	SO:0001583	missense	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235949783A>G	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.370A>G	2.37:g.235949783A>G	ENSP00000386862:p.Met124Val					SH3BP4_uc010fym.2_Missense_Mutation_p.M124V|SH3BP4_uc002vvq.2_Missense_Mutation_p.M124V	p.M124V	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	4	763	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	124					O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	ENST00000409212.1	37	c.370A>G	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	A	6.495	0.459584	0.12342	.	.	ENSG00000130147	ENST00000392011;ENST00000420127;ENST00000409212;ENST00000344528;ENST00000446904	T;T;T;T	0.26957	2.96;2.96;2.96;1.7	5.39	-1.5	0.08691	.	0.115239	0.85682	N	0.000000	T	0.14570	0.0352	L	0.34521	1.04	0.49798	D	0.999825	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.06303	-1.0834	10	0.38643	T	0.18	-14.7544	5.7971	0.18394	0.5274:0.1353:0.3373:0.0	.	124;124	A8K594;Q9P0V3	.;SH3B4_HUMAN	V	124	ENSP00000375867:M124V;ENSP00000386862:M124V;ENSP00000340237:M124V;ENSP00000415391:M124V	ENSP00000340237:M124V	M	+	1	0	SH3BP4	235614522	0.988000	0.35896	0.165000	0.22776	0.050000	0.14768	2.888000	0.48594	-0.532000	0.06332	-0.408000	0.06270	ATG		0.527	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			17	41	0	0	0	0	17	41				
KIF1A	547	broad.mit.edu	37	2	241657475	241657475	+	Silent	SNP	C	C	T	rs369259122		TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr2:241657475C>T	ENST00000320389.7	-	46	5180	c.5022G>A	c.(5020-5022)ggG>ggA	p.G1674G	KIF1A_ENST00000498729.2_Silent_p.G1775G	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1674					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		ACCGTATGGTCCCGGCCAGGA	0.667																																						uc002vzy.2		NA																	0				lung(1)	1						c.(5020-5022)GGG>GGA		axonal transport of synaptic vesicles		C		0,4168		0,0,2084	23.0	29.0	27.0		5022	-4.3	0.8	2		27	1,8419		0,1,4209	no	coding-synonymous	KIF1A	NM_004321.5		0,1,6293	TT,TC,CC		0.0119,0.0,0.0079		1674/1691	241657475	1,12587	2084	4210	6294	SO:0001819	synonymous_variant	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241657475C>T	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.5022G>A	2.37:g.241657475C>T						KIF1A_uc010fzk.2_Silent_p.G1775G|KIF1A_uc002vzw.2_Silent_p.G335G|KIF1A_uc002vzx.2_Silent_p.G401G	p.G1674G	NM_004321	NP_004312	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	46	5168	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	1674					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Silent	SNP	ENST00000320389.7	37	c.5022G>A	CCDS46561.1																																																																																				0.667	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		4	14	0	0	0	0	4	14				
PLCB4	5332	broad.mit.edu	37	20	9391725	9391725	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr20:9391725G>T	ENST00000378493.1	+	21	2020	c.2005G>T	c.(2005-2007)Gga>Tga	p.G669*	PLCB4_ENST00000334005.3_Nonsense_Mutation_p.G669*|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Nonsense_Mutation_p.G669*|PLCB4_ENST00000414679.2_Nonsense_Mutation_p.G681*|PLCB4_ENST00000378473.3_Nonsense_Mutation_p.G681*|PLCB4_ENST00000378501.2_Nonsense_Mutation_p.G669*			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	669	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TGAGTATAATGGATCGTGCGG	0.368																																						uc002wnf.2		NA																	0				skin(11)|ovary(3)|pancreas(1)	15						c.(2005-2007)GGA>TGA		phospholipase C beta 4 isoform b							108.0	107.0	107.0					20																	9391725		2203	4300	6503	SO:0001587	stop_gained	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9391725G>T		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2005G>T	20.37:g.9391725G>T	ENSP00000367754:p.Gly669*					PLCB4_uc010gbw.1_Nonsense_Mutation_p.G669*|PLCB4_uc010gbx.2_Nonsense_Mutation_p.G681*|PLCB4_uc002wne.2_Nonsense_Mutation_p.G669*|PLCB4_uc002wnh.2_Nonsense_Mutation_p.G516*	p.G669*	NM_182797	NP_877949	Q15147	PLCB4_HUMAN			23	2141	+			669			PI-PLC Y-box.		B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Nonsense_Mutation	SNP	ENST00000378493.1	37	c.2005G>T	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	G	43	9.957618	0.99304	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	.	.	.	5.53	5.53	0.82687	.	0.048458	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.8183	0.96579	0.0:0.0:1.0:0.0	.	.	.	.	X	669;681;669;669;669;517	.	ENSP00000278655:G669X	G	+	1	0	PLCB4	9339725	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	9.568000	0.98166	2.761000	0.94854	0.650000	0.86243	GGA		0.368	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			12	35	1	0	7.04e-09	8.52e-09	12	35				
KIF3B	9371	broad.mit.edu	37	20	30904034	30904034	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr20:30904034A>C	ENST00000375712.3	+	3	1585	c.1418A>C	c.(1417-1419)aAg>aCg	p.K473T	KIF3B_ENST00000418717.2_Missense_Mutation_p.K99T	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	473					anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ATGGAGAGTAAGTTGCTTGTT	0.408																																						uc002wxq.2		NA																	0				central_nervous_system(3)|ovary(2)	5						c.(1417-1419)AAG>ACG		kinesin family member 3B							101.0	107.0	105.0					20																	30904034		2203	4300	6503	SO:0001583	missense	9371				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding	g.chr20:30904034A>C	AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.1418A>C	20.37:g.30904034A>C	ENSP00000364864:p.Lys473Thr					KIF3B_uc010ztw.1_Missense_Mutation_p.K411T	p.K473T	NM_004798	NP_004789	O15066	KIF3B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		3	1585	+			473			Potential.		B2RMP4|B4DSR5|E1P5M5	Missense_Mutation	SNP	ENST00000375712.3	37	c.1418A>C	CCDS13200.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.056151	0.76074	.	.	ENSG00000101350	ENST00000375712;ENST00000418717	T;T	0.77229	-1.08;0.25	4.87	4.87	0.63330	.	0.046997	0.85682	D	0.000000	D	0.90407	0.6997	M	0.93150	3.385	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.72075	0.976;0.974	D	0.92567	0.6063	10	0.59425	D	0.04	.	14.6423	0.68734	1.0:0.0:0.0:0.0	.	99;473	B4DSR5;O15066	.;KIF3B_HUMAN	T	473;99	ENSP00000364864:K473T;ENSP00000406287:K99T	ENSP00000364864:K473T	K	+	2	0	KIF3B	30367695	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.231000	0.78106	2.038000	0.60285	0.459000	0.35465	AAG		0.408	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1	NM_004798		11	79	0	0	0	0	11	79				
ZBP1	81030	broad.mit.edu	37	20	56189965	56189965	+	Silent	SNP	T	T	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr20:56189965T>C	ENST00000371173.3	-	4	657	c.480A>G	c.(478-480)aaA>aaG	p.K160K	ZBP1_ENST00000340462.4_Silent_p.K137K|ZBP1_ENST00000343535.4_Silent_p.K160K|ZBP1_ENST00000538947.1_5'Flank|ZBP1_ENST00000541799.1_Silent_p.K160K|ZBP1_ENST00000395822.3_Silent_p.K85K	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	160					innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			TCGTCCATGCTTTGGACTGCT	0.557																																						uc002xyo.2		NA																	0				ovary(2)	2						c.(478-480)AAA>AAG		Z-DNA binding protein 1 isoform a							188.0	148.0	161.0					20																	56189965		2203	4300	6503	SO:0001819	synonymous_variant	81030					cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding	g.chr20:56189965T>C	AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"""DNA-dependent activator of IRFs"""	606750	"""chromosome 20 open reading frame 183"""	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.480A>G	20.37:g.56189965T>C						ZBP1_uc010gjm.2_Silent_p.K160K|ZBP1_uc002xyp.2_Silent_p.K85K|ZBP1_uc010zzn.1_Silent_p.K160K	p.K160K	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)		4	761	-	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		160			DRADA 2.		A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Silent	SNP	ENST00000371173.3	37	c.480A>G	CCDS13461.1																																																																																				0.557	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079849.1	NM_030776		57	121	0	0	0	0	57	121				
KRTAP13-2	337959	broad.mit.edu	37	21	31744004	31744004	+	Nonstop_Mutation	SNP	T	T	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr21:31744004T>A	ENST00000399889.2	-	1	553	c.528A>T	c.(526-528)tgA>tgT	p.*176C		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	0						intermediate filament (GO:0005882)				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						GTCTGGAAATTCAGCAAGTTG	0.468																																						uc002ynz.3		NA																	0					0						c.(526-528)TGA>TGT		keratin associated protein 13-2							76.0	72.0	73.0					21																	31744004		2203	4300	6503	SO:0001578	stop_lost	337959					intermediate filament		g.chr21:31744004T>A	AP001708	CCDS13589.1	21q22.1	2011-02-10			ENSG00000182816	ENSG00000182816		"""Keratin associated proteins"""	18923	protein-coding gene	gene with protein product						12359730	Standard	NM_181621		Approved	KAP13-2	uc002ynz.4	Q52LG2	OTTHUMG00000057793	ENST00000399889.2:c.528A>T	21.37:g.31744004T>A							p.*176C	NM_181621	NP_853652	Q52LG2	KR132_HUMAN			1	554	-			176						Nonstop_Mutation	SNP	ENST00000399889.2	37	c.528A>T	CCDS13589.1	.	.	.	.	.	.	.	.	.	.	T	9.567	1.119978	0.20877	.	.	ENSG00000182816	ENST00000399889	.	.	.	5.01	2.58	0.30949	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.6729	0.12698	0.1675:0.0925:0.0:0.74	.	.	.	.	C	176	.	.	X	-	3	0	KRTAP13-2	30665875	0.006000	0.16342	0.024000	0.17045	0.706000	0.40770	1.154000	0.31688	0.423000	0.26033	0.533000	0.62120	TGA		0.468	KRTAP13-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128245.1			4	53	0	0	0	0	4	53				
XYLB	9942	broad.mit.edu	37	3	38442394	38442394	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr3:38442394G>A	ENST00000207870.3	+	18	1541	c.1451G>A	c.(1450-1452)gGa>gAa	p.G484E	XYLB_ENST00000472721.1_3'UTR|XYLB_ENST00000542835.1_Missense_Mutation_p.G347E	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	484					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|D-xylose metabolic process (GO:0042732)|generation of precursor metabolites and energy (GO:0006091)|xylulose catabolic process (GO:0005998)|xylulose metabolic process (GO:0005997)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|xylulokinase activity (GO:0004856)			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		CTTGCAGGTGGAACAGATGTG	0.502																																						uc003cic.2		NA																	0				ovary(1)	1						c.(1450-1452)GGA>GAA		xylulokinase							169.0	155.0	159.0					3																	38442394		2203	4300	6503	SO:0001583	missense	9942				D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity	g.chr3:38442394G>A	AB015046	CCDS2678.1	3p22-p21.3	2006-12-18	2001-12-04		ENSG00000093217	ENSG00000093217			12839	protein-coding gene	gene with protein product		604049	"""xylulokinase (H. influenzae) homolog"""			9763671	Standard	NM_005108		Approved	FLJ10343, FLJ12539	uc003cic.2	O75191	OTTHUMG00000131294	ENST00000207870.3:c.1451G>A	3.37:g.38442394G>A	ENSP00000207870:p.Gly484Glu					XYLB_uc011ayp.1_Missense_Mutation_p.G347E|XYLB_uc003cid.1_Missense_Mutation_p.G406E	p.G484E	NM_005108	NP_005099	O75191	XYLB_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)	18	1560	+			484					B2RAW4|B4DDT2|B9EH64	Missense_Mutation	SNP	ENST00000207870.3	37	c.1451G>A	CCDS2678.1	.	.	.	.	.	.	.	.	.	.	g	2.852	-0.238127	0.05944	.	.	ENSG00000093217	ENST00000207870;ENST00000542835	T;T	0.59906	0.23;0.23	5.5	3.74	0.42951	.	0.399679	0.24633	N	0.036866	T	0.34106	0.0886	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.26985	-1.0087	10	0.02654	T	1	.	7.0893	0.25275	0.0846:0.0:0.7455:0.1699	.	347;484	B4DDT2;O75191	.;XYLB_HUMAN	E	484;347	ENSP00000207870:G484E;ENSP00000443659:G347E	ENSP00000207870:G484E	G	+	2	0	XYLB	38417398	0.283000	0.24277	0.056000	0.19401	0.827000	0.46813	0.667000	0.25112	0.909000	0.36697	-0.121000	0.15023	GGA		0.502	XYLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254062.2	NM_005108		22	21	0	0	0	0	22	21				
GMPPB	29925	broad.mit.edu	37	3	49756364	49756364	+	3'UTR	SNP	C	C	T	rs373111160		TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr3:49756364C>T	ENST00000480687.1	-	0	4020				RNF123_ENST00000327697.6_Intron|RNF123_ENST00000497099.1_Intron|AMIGO3_ENST00000535833.1_Missense_Mutation_p.G179S|AMIGO3_ENST00000320431.7_Missense_Mutation_p.G179S|RNF123_ENST00000433785.1_Intron			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCGCTCAGACCGTGCAGGTGG	0.642											OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003cxj.2		NA																	0				pancreas(1)	1						c.(535-537)GGT>AGT		adhesion molecule with Ig-like domain 3							80.0	65.0	70.0					3																	49756364		2203	4300	6503	SO:0001624	3_prime_UTR_variant	386724				heterophilic cell-cell adhesion	integral to membrane		g.chr3:49756364C>T	AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.*2821G>A	3.37:g.49756364C>T			OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	964	RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	p.G179S	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	875	-			179			Extracellular (Potential).		A8K6N5|Q9H7U3	Missense_Mutation	SNP	ENST00000480687.1	37	c.535G>A	CCDS2803.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.561622	0.86335	.	.	ENSG00000176020	ENST00000320431;ENST00000535833	T;T	0.02446	4.29;4.29	5.21	5.21	0.72293	.	0.481828	0.23879	N	0.043662	T	0.04634	0.0126	L	0.57536	1.79	0.80722	D	1	P	0.46578	0.88	B	0.41894	0.369	T	0.48479	-0.9032	10	0.34782	T	0.22	-10.8465	10.9102	0.47103	0.0:0.9129:0.0:0.0871	.	179	Q86WK7	AMGO3_HUMAN	S	179	ENSP00000323096:G179S;ENSP00000439268:G179S	ENSP00000323096:G179S	G	-	1	0	AMIGO3	49731368	0.225000	0.23685	0.995000	0.50966	0.834000	0.47266	1.546000	0.36179	2.427000	0.82271	0.462000	0.41574	GGT		0.642	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1	NM_013334		37	29	0	0	0	0	37	29				
CACNA1D	776	broad.mit.edu	37	3	53842766	53842766	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr3:53842766C>T	ENST00000350061.5	+	46	6351	c.5840C>T	c.(5839-5841)aCg>aTg	p.T1947M	CACNA1D_ENST00000544977.1_Missense_Mutation_p.T326M|CACNA1D_ENST00000288139.4_Missense_Mutation_p.T1967M|CACNA1D_ENST00000422281.2_Missense_Mutation_p.T1923M	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1947					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)	p.T1967M(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCCCATCGCACGGCCCTGCCT	0.642																																						uc003dgv.3		NA																	1	Substitution - Missense(1)		endometrium(1)	ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11						c.(5839-5841)ACG>ATG		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						63.0	58.0	60.0					3																	53842766		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53842766C>T	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.5840C>T	3.37:g.53842766C>T	ENSP00000288133:p.Thr1947Met					CACNA1D_uc003dgu.3_Missense_Mutation_p.T1967M|CACNA1D_uc003dgy.3_Missense_Mutation_p.T1923M|CACNA1D_uc003dgw.3_Missense_Mutation_p.T1614M|CACNA1D_uc011bes.1_RNA	p.T1947M	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	46	6003	+			1947			Cytoplasmic (Potential).		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.5840C>T	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.711292	0.89112	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000544977	T;T;T;T;T	0.61742	0.08;0.08;0.08;0.08;0.08	5.74	5.74	0.90152	.	0.067004	0.56097	D	0.000024	T	0.77219	0.4098	M	0.77313	2.365	0.51482	D	0.999925	P;P;P;D	0.89917	0.872;0.937;0.635;1.0	B;B;P;D	0.65010	0.391;0.304;0.459;0.931	T	0.78558	-0.2158	10	0.87932	D	0	.	20.3117	0.98644	0.0:1.0:0.0:0.0	.	1923;1640;1947;1967	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	M	1947;1967;1923;1640;326	ENSP00000288133:T1947M;ENSP00000288139:T1967M;ENSP00000409174:T1923M;ENSP00000418014:T1640M;ENSP00000440956:T326M	ENSP00000288139:T1967M	T	+	2	0	CACNA1D	53817806	1.000000	0.71417	0.934000	0.37439	0.689000	0.40095	7.601000	0.82783	2.884000	0.98904	0.655000	0.94253	ACG		0.642	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		9	60	0	0	0	0	9	60				
MBNL1	4154	broad.mit.edu	37	3	152163264	152163264	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr3:152163264A>C	ENST00000463374.1	+	4	1254	c.743A>C	c.(742-744)aAg>aCg	p.K248T	MBNL1_ENST00000493459.1_Missense_Mutation_p.K191T|MBNL1_ENST00000324210.5_Missense_Mutation_p.K248T|MBNL1_ENST00000498502.1_Missense_Mutation_p.K248T|MBNL1_ENST00000545754.1_Missense_Mutation_p.K180T|MBNL1_ENST00000357472.3_Missense_Mutation_p.K248T|MBNL1_ENST00000485910.1_Missense_Mutation_p.K180T|MBNL1_ENST00000324196.5_Missense_Mutation_p.K248T|MBNL1_ENST00000282486.6_Missense_Mutation_p.K248T|MBNL1_ENST00000282488.7_Missense_Mutation_p.K180T|MBNL1_ENST00000492948.1_Missense_Mutation_p.K248T|MBNL1_ENST00000485509.1_Missense_Mutation_p.K248T|MBNL1_ENST00000355460.2_Missense_Mutation_p.K248T	NM_207293.1	NP_997176.1	Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	248					alternative mRNA splicing, via spliceosome (GO:0000380)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|mRNA splice site selection (GO:0006376)|myoblast differentiation (GO:0045445)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|skeletal muscle tissue development (GO:0007519)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GCCAAGATCAAGGCTGCCCAA	0.512																																						uc003ezm.2		NA																	0				ovary(1)	1						c.(742-744)AAG>ACG		muscleblind-like 1 isoform c							99.0	99.0	99.0					3																	152163264		2203	4300	6503	SO:0001583	missense	4154				embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding	g.chr3:152163264A>C	Y13829	CCDS3163.1, CCDS3164.1, CCDS3165.1, CCDS3166.1, CCDS3167.1, CCDS3168.1, CCDS54656.1	3q25	2013-01-18	2012-02-23	2003-03-14	ENSG00000152601	ENSG00000152601		"""Zinc fingers, CCCH-type domain containing"""	6923	protein-coding gene	gene with protein product		606516	"""muscleblind (Drosophila)-like"", ""muscleblind-like (Drosophila)"""	MBNL			Standard	NM_021038		Approved	KIAA0428, EXP42, EXP40, EXP35, EXP	uc003ezm.3	Q9NR56	OTTHUMG00000159163	ENST00000463374.1:c.743A>C	3.37:g.152163264A>C	ENSP00000418108:p.Lys248Thr					MBNL1_uc003ezh.2_Missense_Mutation_p.K248T|MBNL1_uc003ezi.2_Missense_Mutation_p.K248T|MBNL1_uc003ezj.2_Missense_Mutation_p.K191T|MBNL1_uc003ezl.2_Missense_Mutation_p.K248T|MBNL1_uc003ezp.2_Missense_Mutation_p.K248T|MBNL1_uc003ezn.2_Missense_Mutation_p.K180T|MBNL1_uc003ezo.2_Missense_Mutation_p.K180T|MBNL1_uc010hvp.2_Missense_Mutation_p.K156T	p.K248T	NM_207293	NP_997176	Q9NR56	MBNL1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		4	1532	+			248					E9PBW7|O43311|O43797|Q86UV8|Q86UV9|Q96P92|Q96RE3	Missense_Mutation	SNP	ENST00000463374.1	37	c.743A>C	CCDS3165.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.929516	0.92389	.	.	ENSG00000152601	ENST00000282486;ENST00000282488;ENST00000355460;ENST00000493459;ENST00000324210;ENST00000498502;ENST00000324196;ENST00000545754;ENST00000357472;ENST00000485910;ENST00000463374;ENST00000465907;ENST00000492948;ENST00000485509;ENST00000478535	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.67813	0.2933	M	0.84326	2.69	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.999;0.998;1.0;1.0;0.999;0.991;0.998;0.998;0.997	D;D;D;D;D;D;D;D;D	0.87578	0.971;0.974;0.998;0.994;0.988;0.917;0.964;0.959;0.962	T	0.73691	-0.3903	10	0.87932	D	0	-9.3813	15.4681	0.75419	1.0:0.0:0.0:0.0	.	248;248;180;180;248;248;191;248;248	C9JP00;E9PBW7;Q9NR56-3;Q96RE3;Q9NR56;Q86UV8;Q86VM6;Q9NR56-2;Q96P92	.;.;.;.;MBNL1_HUMAN;.;.;.;.	T	248;180;248;191;248;248;248;180;248;180;248;180;248;248;151	ENSP00000282486:K248T;ENSP00000282488:K180T;ENSP00000347637:K248T;ENSP00000419347:K191T;ENSP00000319429:K248T;ENSP00000420327:K248T;ENSP00000319374:K248T;ENSP00000437491:K180T;ENSP00000350064:K248T;ENSP00000418427:K180T;ENSP00000418108:K248T;ENSP00000417630:K180T;ENSP00000420103:K248T;ENSP00000418876:K248T;ENSP00000418508:K151T	ENSP00000282486:K248T	K	+	2	0	MBNL1	153645954	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.210000	0.95106	2.050000	0.60909	0.533000	0.62120	AAG		0.512	MBNL1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353604.1	NM_021038		137	138	0	0	0	0	137	138				
MECOM	2122	broad.mit.edu	37	3	168807903	168807903	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr3:168807903T>C	ENST00000464456.1	-	13	3895	c.2695A>G	c.(2695-2697)Att>Gtt	p.I899V	MECOM_ENST00000433243.2_Missense_Mutation_p.I909V|MECOM_ENST00000468789.1_Missense_Mutation_p.I908V|MECOM_ENST00000264674.3_Missense_Mutation_p.I973V|MECOM_ENST00000472280.1_Missense_Mutation_p.I909V|MECOM_ENST00000460814.1_Missense_Mutation_p.I899V|MECOM_ENST00000392736.3_Missense_Mutation_p.I908V|MECOM_ENST00000494292.1_Missense_Mutation_p.I1087V	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TTTCCAGTAATATCATTGTCT	0.408																																						uc003ffi.3		NA																	0				lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						c.(2722-2724)ATT>GTT		MDS1 and EVI1 complex locus isoform b							240.0	234.0	236.0					3																	168807903		2203	4300	6503	SO:0001583	missense	2122				apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:168807903T>C	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2695A>G	3.37:g.168807903T>C	ENSP00000419770:p.Ile899Val					MECOM_uc010hwk.1_Missense_Mutation_p.I922V|MECOM_uc003ffj.3_Missense_Mutation_p.I973V|MECOM_uc011bpi.1_Missense_Mutation_p.I900V|MECOM_uc003ffn.3_Missense_Mutation_p.I908V|MECOM_uc003ffk.2_Missense_Mutation_p.I899V|MECOM_uc003ffl.2_Missense_Mutation_p.I1059V|MECOM_uc011bpj.1_Missense_Mutation_p.I1096V|MECOM_uc011bpk.1_Missense_Mutation_p.I898V	p.I908V	NM_005241	NP_005232	Q03112	EVI1_HUMAN			14	2991	-			908			Asp/Glu-rich (acidic).		Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.2722A>G	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	T	0.009	-1.803520	0.00611	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.04970	3.56;3.56;3.53;3.66;3.52;3.56;3.52;3.66	5.26	-1.59	0.08453	.	1.110750	0.06833	N	0.794350	T	0.05044	0.0135	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.45220	-0.9276	10	0.30854	T	0.27	0.6679	6.9155	0.24357	0.0:0.1349:0.3864:0.4787	.	1096;900;1087;973;908	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	V	973;908;899;909;1087;908;899;909	ENSP00000264674:I973V;ENSP00000376493:I908V;ENSP00000419770:I899V;ENSP00000420048:I909V;ENSP00000417899:I1087V;ENSP00000419995:I908V;ENSP00000420466:I899V;ENSP00000394302:I909V	ENSP00000264674:I973V	I	-	1	0	MECOM	170290597	0.967000	0.33354	0.244000	0.24202	0.000000	0.00434	0.457000	0.21875	-0.264000	0.09365	-1.064000	0.02280	ATT		0.408	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		35	199	0	0	0	0	35	199				
ADIPOQ	9370	broad.mit.edu	37	3	186571026	186571026	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr3:186571026G>A	ENST00000412955.2	+	2	320	c.179G>A	c.(178-180)gGc>gAc	p.G60D	ADIPOQ_ENST00000320741.2_Missense_Mutation_p.G60D|ADIPOQ_ENST00000444204.2_Missense_Mutation_p.G60D|ADIPOQ-AS1_ENST00000422718.1_RNA			Q15848	ADIPO_HUMAN	adiponectin, C1Q and collagen domain containing	60	Collagen-like.				adiponectin-activated signaling pathway (GO:0033211)|brown fat cell differentiation (GO:0050873)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to insulin stimulus (GO:0032869)|circadian rhythm (GO:0007623)|detection of oxidative stress (GO:0070994)|fatty acid beta-oxidation (GO:0006635)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|low-density lipoprotein particle clearance (GO:0034383)|membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of hormone secretion (GO:0046888)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular protein transport (GO:0090317)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metanephric mesenchymal cell migration (GO:2000590)|negative regulation of phagocytosis (GO:0050765)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of receptor binding (GO:1900121)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of synaptic transmission (GO:0050805)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|positive regulation of blood pressure (GO:0045777)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of metanephric glomerular visceral epithelial cell development (GO:2000478)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of myeloid cell apoptotic process (GO:0033034)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal albumin absorption (GO:2000534)|positive regulation of signal transduction (GO:0009967)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|regulation of glucose metabolic process (GO:0010906)|response to activity (GO:0014823)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to linoleic acid (GO:0070543)|response to nutrient (GO:0007584)|response to sucrose (GO:0009744)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|sialic acid binding (GO:0033691)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2)	16	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)		GGCAGAGATGGCACCCCTGGT	0.567																																						uc003fra.2		NA																	0				ovary(1)	1						c.(178-180)GGC>GAC		adiponectin precursor							35.0	40.0	38.0					3																	186571026		2200	4299	6499	SO:0001583	missense	9370				brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor	collagen|endoplasmic reticulum|extracellular space	cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity	g.chr3:186571026G>A	D45371	CCDS3284.1	3q27	2013-02-26	2005-01-24	2005-01-27	ENSG00000181092	ENSG00000181092		"""Endogenous ligands"""	13633	protein-coding gene	gene with protein product	"""adipose most abundant gene transcript 1"", ""adiponectin precursor"""	605441	"""adipocyte, C1Q and collagen domain containing"""	ACDC		7592907, 8631877	Standard	NM_001177800		Approved	ACRP30, AdipoQ, apM1, GBP28, adiponectin	uc003fra.3	Q15848	OTTHUMG00000156521	ENST00000412955.2:c.179G>A	3.37:g.186571026G>A	ENSP00000405611:p.Gly60Asp					ADIPOQ_uc010hyy.2_Missense_Mutation_p.G60D	p.G60D	NM_004797	NP_004788	Q15848	ADIPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)	2	263	+	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		60			Collagen-like.		Q58EX9	Missense_Mutation	SNP	ENST00000412955.2	37	c.179G>A	CCDS3284.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.995553	0.93167	.	.	ENSG00000181092	ENST00000412955;ENST00000320741;ENST00000444204	D;D;D	0.99353	-5.77;-5.77;-5.77	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.99638	0.9867	H	0.96970	3.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97655	1.0157	10	0.87932	D	0	.	16.6188	0.84924	0.0:0.0:1.0:0.0	.	60	Q15848	ADIPO_HUMAN	D	60	ENSP00000405611:G60D;ENSP00000320709:G60D;ENSP00000389814:G60D	ENSP00000320709:G60D	G	+	2	0	ADIPOQ	188053720	1.000000	0.71417	0.994000	0.49952	0.890000	0.51754	9.824000	0.99380	2.616000	0.88540	0.655000	0.94253	GGC		0.567	ADIPOQ-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344490.2	NM_004797		9	52	0	0	0	0	9	52				
LRRC15	131578	broad.mit.edu	37	3	194081062	194081062	+	Silent	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr3:194081062G>A	ENST00000347624.3	-	2	796	c.711C>T	c.(709-711)tcC>tcT	p.S237S	LRRC15_ENST00000428839.1_Silent_p.S243S|LRRC15_ENST00000439944.2_Silent_p.S243S	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	237					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)			biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		AGAGACCAGGGGAGAGCAGTC	0.552																																						uc003ftu.2		NA																	0				ovary(3)	3						c.(709-711)TCC>TCT		leucine rich repeat containing 15 isoform b							160.0	169.0	166.0					3																	194081062		2203	4300	6503	SO:0001819	synonymous_variant	131578					integral to membrane		g.chr3:194081062G>A	AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.711C>T	3.37:g.194081062G>A						LRRC15_uc003ftt.2_Silent_p.S243S	p.S237S	NM_130830	NP_570843	Q8TF66	LRC15_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)	2	797	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		237			Extracellular (Potential).|LRR 8.		Q495Q6|Q7RTN7	Silent	SNP	ENST00000347624.3	37	c.711C>T	CCDS3306.1																																																																																				0.552	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2			5	202	0	0	0	0	5	202				
GRSF1	2926	broad.mit.edu	37	4	71698926	71698926	+	Silent	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr4:71698926C>T	ENST00000254799.6	-	3	696	c.579G>A	c.(577-579)agG>agA	p.R193R	GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000439371.1_Silent_p.R31R|GRSF1_ENST00000502323.1_Silent_p.R31R|GRSF1_ENST00000545193.1_Silent_p.R75R	NM_002092.3	NP_002083	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	193	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anterior/posterior pattern specification (GO:0009952)|morphogenesis of embryonic epithelium (GO:0016331)|mRNA polyadenylation (GO:0006378)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			AGGCATCACCCCTTCGTTTCC	0.438																																						uc010iia.1		NA																	0					0						c.(577-579)AGG>AGA		G-rich RNA sequence binding factor 1 isoform 1							151.0	149.0	150.0					4																	71698926		2147	4256	6403	SO:0001819	synonymous_variant	2926				mRNA polyadenylation		mRNA binding|nucleotide binding	g.chr4:71698926C>T	BC040485	CCDS47069.1, CCDS47070.1	4q13	2013-07-16				ENSG00000132463		"""RNA binding motif (RRM) containing"""	4610	protein-coding gene	gene with protein product		604851				8036161	Standard	NM_001098477		Approved		uc010iia.1	Q12849		ENST00000254799.6:c.579G>A	4.37:g.71698926C>T						GRSF1_uc011caz.1_Silent_p.R75R|GRSF1_uc003hfs.2_Silent_p.R31R	p.R193R	NM_002092	NP_002083	Q12849	GRSF1_HUMAN	Lung(101;0.235)		3	662	-		all_hematologic(202;0.21)	193			RRM 1.		B3KPW0|Q4W5S5|Q6ZST3|Q8IWD6|Q8NBD2	Silent	SNP	ENST00000254799.6	37	c.579G>A	CCDS47069.1	.	.	.	.	.	.	.	.	.	.	C	1.221	-0.626975	0.03610	.	.	ENSG00000132463	ENST00000514161	.	.	.	5.11	1.49	0.22878	.	.	.	.	.	T	0.42966	0.1226	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22452	-1.0216	4	.	.	.	-8.2736	1.7731	0.03016	0.1319:0.457:0.1278:0.2833	.	.	.	.	E	130	.	.	G	-	2	0	GRSF1	71917790	0.015000	0.18098	0.999000	0.59377	0.016000	0.09150	-1.381000	0.02549	0.131000	0.18576	-0.844000	0.03045	GGG		0.438	GRSF1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362642.1	NM_002092		18	61	0	0	0	0	18	61				
SLC4A4	8671	broad.mit.edu	37	4	72222834	72222834	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr4:72222834C>A	ENST00000264485.5	+	6	777	c.660C>A	c.(658-660)aaC>aaA	p.N220K	SLC4A4_ENST00000351898.6_Missense_Mutation_p.N220K|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000425175.1_Missense_Mutation_p.N220K|SLC4A4_ENST00000340595.3_Missense_Mutation_p.N176K|SLC4A4_ENST00000512686.1_Missense_Mutation_p.N176K	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	220					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	AGAAATCCAACCTTCGGTCCC	0.483																																						uc003hfy.2		NA																	0				ovary(3)|kidney(1)|skin(1)	5						c.(658-660)AAC>AAA		solute carrier family 4, sodium bicarbonate							132.0	135.0	134.0					4																	72222834		2203	4300	6503	SO:0001583	missense	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72222834C>A	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.660C>A	4.37:g.72222834C>A	ENSP00000264485:p.Asn220Lys					SLC4A4_uc010iic.2_Missense_Mutation_p.N220K|SLC4A4_uc010iib.2_Missense_Mutation_p.N220K|SLC4A4_uc003hfz.2_Missense_Mutation_p.N220K|SLC4A4_uc003hgc.3_Missense_Mutation_p.N176K|SLC4A4_uc003hga.2_Missense_Mutation_p.N98K|SLC4A4_uc003hgb.3_Missense_Mutation_p.N176K	p.N220K	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		6	777	+			220			Cytoplasmic (Potential).		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	c.660C>A	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.330850	0.24167	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000512686;ENST00000340595	T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25	5.84	2.75	0.32379	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	T	0.78792	0.4339	L	0.41356	1.27	0.58432	D	0.999992	D;P;D;D;P;B	0.76494	0.982;0.732;0.997;0.999;0.662;0.256	D;P;D;D;B;B	0.91635	0.938;0.458;0.953;0.999;0.439;0.425	T	0.73780	-0.3875	10	0.06099	T	0.92	.	12.1911	0.54273	0.0:0.7826:0.0:0.2174	.	220;220;176;176;200;220	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1-3;Q9Y6R3;Q9Y6R1	.;.;.;.;.;S4A4_HUMAN	K	220;220;220;176;176	ENSP00000264485:N220K;ENSP00000393557:N220K;ENSP00000307349:N220K;ENSP00000422400:N176K;ENSP00000344272:N176K	ENSP00000264485:N220K	N	+	3	2	SLC4A4	72441698	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.714000	0.47202	0.799000	0.34018	0.655000	0.94253	AAC		0.483	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		23	88	1	0	4.72e-08	5.64e-08	23	88				
SHROOM3	57619	broad.mit.edu	37	4	77662554	77662554	+	Silent	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr4:77662554C>T	ENST00000296043.6	+	5	4181	c.3228C>T	c.(3226-3228)ccC>ccT	p.P1076P		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1076					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TGTCGGGGCCCGAGCTGAAGC	0.692																																						uc011cbx.1		NA																	0				skin(2)|ovary(1)	3						c.(3226-3228)CCC>CCT		shroom family member 3 protein							10.0	10.0	10.0					4																	77662554		2186	4277	6463	SO:0001819	synonymous_variant	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77662554C>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.3228C>T	4.37:g.77662554C>T						SHROOM3_uc011cbz.1_Silent_p.P900P|SHROOM3_uc003hkf.1_Silent_p.P951P|SHROOM3_uc003hkg.2_Silent_p.P854P	p.P1076P	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		5	4181	+			1076					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Silent	SNP	ENST00000296043.6	37	c.3228C>T	CCDS3579.2																																																																																				0.692	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		10	9	0	0	0	0	10	9				
SLC9B1	150159	broad.mit.edu	37	4	103912839	103912839	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr4:103912839A>T	ENST00000296422.7	-	2	171	c.30T>A	c.(28-30)caT>caA	p.H10Q	SLC9B1_ENST00000394789.3_Missense_Mutation_p.H10Q	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	10					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										CATCCTCCAAATGTTCATTTT	0.264																																						uc003hww.2		NA																	0				ovary(1)|skin(1)	2						c.(28-30)CAT>CAA		Na+/H+ exchanger domain containing 1 isoform 1							50.0	50.0	50.0					4																	103912839		2196	4285	6481	SO:0001583	missense	150159					integral to membrane	solute:hydrogen antiporter activity	g.chr4:103912839A>T	AF447585	CCDS34041.1, CCDS47119.1	4q24	2013-05-22	2012-03-22	2011-07-26	ENSG00000164037	ENSG00000164037		"""Solute carriers"""	24244	protein-coding gene	gene with protein product		611527	"""Na+/H+ exchanger domain containing 1"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 1"""	NHEDC1		16850186	Standard	NM_139173		Approved	NHA1	uc003hww.3	Q4ZJI4	OTTHUMG00000161114	ENST00000296422.7:c.30T>A	4.37:g.103912839A>T	ENSP00000296422:p.His10Gln					NHEDC1_uc003hwu.2_Missense_Mutation_p.H10Q|NHEDC1_uc010ilm.2_5'UTR|NHEDC1_uc003hwv.2_RNA|NHEDC1_uc011cev.1_5'UTR	p.H10Q	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.5e-08)	2	152	-		Hepatocellular(203;0.217)	10					A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Missense_Mutation	SNP	ENST00000296422.7	37	c.30T>A	CCDS34041.1	.	.	.	.	.	.	.	.	.	.	A	9.065	0.995508	0.19043	.	.	ENSG00000164037	ENST00000394789;ENST00000296422;ENST00000514340;ENST00000452285;ENST00000510559	T;T;T;T	0.66460	2.0;2.08;0.91;-0.21	3.5	1.01	0.19927	.	2.244620	0.01992	N	0.045606	T	0.57431	0.2053	L	0.47716	1.5	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.15235	-1.0444	10	0.23891	T	0.37	-4.8348	3.7035	0.08391	0.656:0.2248:0.1193:0.0	.	10;10	Q4ZJI4;Q4ZJI4-3	SL9B1_HUMAN;.	Q	10	ENSP00000378269:H10Q;ENSP00000296422:H10Q;ENSP00000426056:H10Q;ENSP00000426325:H10Q	ENSP00000296422:H10Q	H	-	3	2	SLC9B1	104132288	0.000000	0.05858	0.002000	0.10522	0.044000	0.14063	-0.007000	0.12810	0.217000	0.20800	-0.323000	0.08544	CAT		0.264	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363841.1	NM_139173		3	2	0	0	0	0	3	2				
PCDH18	54510	broad.mit.edu	37	4	138451312	138451312	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr4:138451312A>C	ENST00000344876.4	-	1	2317	c.1931T>G	c.(1930-1932)aTg>aGg	p.M644R	PCDH18_ENST00000412923.2_Missense_Mutation_p.M644R|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.M424R|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	644	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					AACAGAATCCATGCTAACGTT	0.438																																						uc003ihe.3		NA																	0				pancreas(3)|skin(2)	5						c.(1930-1932)ATG>AGG		protocadherin 18 precursor							210.0	185.0	194.0					4																	138451312		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138451312A>C	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.1931T>G	4.37:g.138451312A>C	ENSP00000355082:p.Met644Arg					PCDH18_uc003ihf.3_Missense_Mutation_p.M637R|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.M424R|PCDH18_uc011cha.1_Intron	p.M644R	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN			1	2318	-	all_hematologic(180;0.24)		644			Cadherin 6.|Extracellular (Potential).		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.1931T>G	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	A	11.79	1.742780	0.30865	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.51817	0.69;0.69;0.69	5.93	5.93	0.95920	Cadherin (4);Cadherin-like (1);	0.296299	0.24608	N	0.037073	T	0.43211	0.1237	L	0.35854	1.095	0.80722	D	1	B;B;B	0.28178	0.065;0.059;0.202	B;B;B	0.28849	0.089;0.095;0.089	T	0.38499	-0.9658	10	0.87932	D	0	.	16.3817	0.83467	1.0:0.0:0.0:0.0	.	424;644;644	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	R	644;644;424	ENSP00000355082:M644R;ENSP00000390688:M644R;ENSP00000425903:M424R	ENSP00000355082:M644R	M	-	2	0	PCDH18	138670762	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	7.516000	0.81772	2.261000	0.74972	0.460000	0.39030	ATG		0.438	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		4	185	0	0	0	0	4	185				
CDH12	1010	broad.mit.edu	37	5	21975279	21975279	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr5:21975279T>A	ENST00000382254.1	-	6	1533	c.447A>T	c.(445-447)aaA>aaT	p.K149N	CDH12_ENST00000522262.1_Missense_Mutation_p.K149N|CDH12_ENST00000504376.2_Missense_Mutation_p.K149N	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	149	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TATCCTGCACTTTGATGATGA	0.423										HNSCC(59;0.17)																												uc010iuc.2		NA																	0				ovary(2)	2						c.(445-447)AAA>AAT		cadherin 12, type 2 preproprotein							58.0	59.0	59.0					5																	21975279		2037	3878	5915	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21975279T>A	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.447A>T	5.37:g.21975279T>A	ENSP00000371689:p.Lys149Asn	HNSCC(59;0.17)				CDH12_uc011cno.1_Missense_Mutation_p.K149N|CDH12_uc003jgk.2_Missense_Mutation_p.K149N	p.K149N	NM_004061	NP_004052	P55289	CAD12_HUMAN			3	905	-			149			Cadherin 1.|Extracellular (Potential).		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.447A>T	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	T	19.50	3.840211	0.71488	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.51071	0.72;0.72;0.72	5.16	5.16	0.70880	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.67804	0.2932	M	0.71036	2.16	0.50313	D	0.999868	D;D	0.89917	0.999;1.0	D;D	0.85130	0.993;0.997	T	0.72191	-0.4365	10	0.87932	D	0	.	14.9747	0.71261	0.0:0.0:0.0:1.0	.	149;149	B7Z2U6;P55289	.;CAD12_HUMAN	N	149	ENSP00000423577:K149N;ENSP00000371689:K149N;ENSP00000428786:K149N	ENSP00000371689:K149N	K	-	3	2	CDH12	22011036	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.719000	0.54926	1.954000	0.56735	0.397000	0.26171	AAA		0.423	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		5	77	0	0	0	0	5	77				
PRDM9	56979	broad.mit.edu	37	5	23522937	23522937	+	Silent	SNP	T	T	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr5:23522937T>C	ENST00000296682.3	+	8	1007	c.825T>C	c.(823-825)ccT>ccC	p.P275P		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	275	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ACTTTGGCCCTTATGAGGGCC	0.557										HNSCC(3;0.000094)																												uc003jgo.2		NA																	0				ovary(3)|large_intestine(2)|pancreas(1)	6						c.(823-825)CCT>CCC		PR domain containing 9							74.0	74.0	74.0					5																	23522937		2203	4300	6503	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23522937T>C	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.825T>C	5.37:g.23522937T>C		HNSCC(3;0.000094)					p.P275P	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			8	1007	+			275			SET.		B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.825T>C	CCDS43307.1																																																																																				0.557	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		3	84	0	0	0	0	3	84				
ADAMTS12	81792	broad.mit.edu	37	5	33576945	33576945	+	Silent	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr5:33576945C>T	ENST00000504830.1	-	19	3521	c.3186G>A	c.(3184-3186)ctG>ctA	p.L1062L	ADAMTS12_ENST00000352040.3_Silent_p.L977L|ADAMTS12_ENST00000504582.1_5'Flank	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1062	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GTTTCCCACCCAGGTCTCCTT	0.547										HNSCC(64;0.19)																												uc003jia.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(3184-3186)CTG>CTA		ADAM metallopeptidase with thrombospondin type 1							121.0	118.0	119.0					5																	33576945		2203	4300	6503	SO:0001819	synonymous_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33576945C>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3186G>A	5.37:g.33576945C>T		HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Silent_p.L977L	p.L1062L	NM_030955	NP_112217	P58397	ATS12_HUMAN			19	3349	-			1062			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.3186G>A	CCDS34140.1																																																																																				0.547	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		29	49	0	0	0	0	29	49				
TTC23L	153657	broad.mit.edu	37	5	34880347	34880347	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr5:34880347G>T	ENST00000505624.1	+	9	1114	c.1011G>T	c.(1009-1011)gaG>gaT	p.E337D	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	337										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						TGGGCTCAGAGGATTTTGAAA	0.348																																						uc003jiu.2		NA																	0				central_nervous_system(1)	1						c.(1009-1011)GAG>GAT		tetratricopeptide repeat domain 23-like							103.0	98.0	99.0					5																	34880347		1838	4088	5926	SO:0001583	missense	153657						binding	g.chr5:34880347G>T		CCDS54840.1	5p13.2	2008-07-14			ENSG00000205838	ENSG00000205838			26355	protein-coding gene	gene with protein product						12477932	Standard	NM_144725		Approved	FLJ25439	uc003jiu.3	Q6PF05	OTTHUMG00000162020	ENST00000505624.1:c.1011G>T	5.37:g.34880347G>T	ENSP00000422188:p.Glu337Asp					TTC23L_uc010iut.1_3'UTR	p.E337D	NM_144725	NP_653326	Q6PF05	TT23L_HUMAN			9	1114	+			337					Q6RGS4|Q8N7R3|Q96LJ2	Missense_Mutation	SNP	ENST00000505624.1	37	c.1011G>T	CCDS54840.1	.	.	.	.	.	.	.	.	.	.	G	6.483	0.457293	0.12342	.	.	ENSG00000205838	ENST00000505624;ENST00000535797	T	0.12039	2.72	4.65	0.251	0.15540	.	0.393532	0.22139	U	0.064069	T	0.07683	0.0193	L	0.39898	1.24	0.21740	N	0.999566	B	0.09022	0.002	B	0.09377	0.004	T	0.37197	-0.9716	10	0.11485	T	0.65	-5.1135	3.1715	0.06554	0.3319:0.0:0.4688:0.1993	.	337	Q6PF05	TT23L_HUMAN	D	337	ENSP00000422188:E337D	ENSP00000422188:E337D	E	+	3	2	TTC23L	34916104	0.599000	0.26891	0.900000	0.35374	0.611000	0.37282	-0.207000	0.09384	0.170000	0.19704	0.460000	0.39030	GAG		0.348	TTC23L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366819.1	NM_144725		12	31	1	0	1.09e-07	1.29e-07	12	31				
ESM1	11082	broad.mit.edu	37	5	54277890	54277890	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr5:54277890C>T	ENST00000381405.4	-	2	531	c.386G>A	c.(385-387)tGc>tAc	p.C129Y	ESM1_ENST00000381403.4_Intron|ESM1_ENST00000598310.1_Intron	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1	129					angiogenesis (GO:0001525)|positive regulation of cell proliferation (GO:0008284)|positive regulation of hepatocyte growth factor receptor signaling pathway (GO:1902204)|regulation of cell growth (GO:0001558)|sprouting angiogenesis (GO:0002040)	extracellular region (GO:0005576)	hepatocyte growth factor receptor binding (GO:0005171)|integrin binding (GO:0005178)			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			GAATTTCAGGCATTTTCCCGT	0.483																																						uc003jpk.2		NA																	0					0						c.(385-387)TGC>TAC		endothelial cell-specific molecule 1 isoform a							125.0	120.0	122.0					5																	54277890		2203	4300	6503	SO:0001583	missense	11082				angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding	g.chr5:54277890C>T	X89426	CCDS3963.1, CCDS47206.1	5q11	2008-02-05			ENSG00000164283	ENSG00000164283			3466	protein-coding gene	gene with protein product		601521				8702785	Standard	NM_001135604		Approved		uc003jpk.3	Q9NQ30	OTTHUMG00000097010	ENST00000381405.4:c.386G>A	5.37:g.54277890C>T	ENSP00000370812:p.Cys129Tyr					ESM1_uc010ivt.2_Intron	p.C129Y	NM_007036	NP_008967	Q9NQ30	ESM1_HUMAN	Lung(15;0.23)		2	455	-		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	129					B2R4G3|Q15330|Q3V4E3|Q96ES3	Missense_Mutation	SNP	ENST00000381405.4	37	c.386G>A	CCDS3963.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.841264	0.91197	.	.	ENSG00000164283	ENST00000381405	T	0.55234	0.53	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.67002	0.2847	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.67783	-0.5581	10	0.87932	D	0	-13.8791	20.2723	0.98479	0.0:1.0:0.0:0.0	.	129	Q9NQ30	ESM1_HUMAN	Y	129	ENSP00000370812:C129Y	ENSP00000370812:C129Y	C	-	2	0	ESM1	54313647	1.000000	0.71417	0.826000	0.32828	0.923000	0.55619	7.278000	0.78587	2.793000	0.96121	0.563000	0.77884	TGC		0.483	ESM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214099.2	NM_007036		30	36	0	0	0	0	30	36				
TMEM174	134288	broad.mit.edu	37	5	72469320	72469320	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr5:72469320A>T	ENST00000296776.5	+	1	299	c.250A>T	c.(250-252)Aca>Tca	p.T84S	TMEM174_ENST00000511737.1_3'UTR	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174	84						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		AGTTGGGGTGACATTCATCCT	0.532																																						uc010izc.2		NA																	0				ovary(1)	1						c.(250-252)ACA>TCA		transmembrane protein 174							86.0	84.0	85.0					5																	72469320		2203	4300	6503	SO:0001583	missense	134288					integral to membrane		g.chr5:72469320A>T	BC019346	CCDS4018.1	5q13.2	2008-02-05			ENSG00000164325	ENSG00000164325			28187	protein-coding gene	gene with protein product		614909				12477932	Standard	NM_153217		Approved	MGC13034, FLJ31268	uc010izc.3	Q8WUU8	OTTHUMG00000131268	ENST00000296776.5:c.250A>T	5.37:g.72469320A>T	ENSP00000296776:p.Thr84Ser						p.T84S	NM_153217	NP_694949	Q8WUU8	TM174_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)	1	298	+		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)	84			Helical; (Potential).		B2RDA0|Q96N81	Missense_Mutation	SNP	ENST00000296776.5	37	c.250A>T	CCDS4018.1	.	.	.	.	.	.	.	.	.	.	A	16.25	3.069746	0.55539	.	.	ENSG00000164325	ENST00000296776	.	.	.	6.02	6.02	0.97574	.	0.051327	0.85682	D	0.000000	T	0.47469	0.1447	N	0.24115	0.695	0.41869	D	0.990263	P	0.51537	0.946	P	0.50314	0.637	T	0.45352	-0.9267	9	0.36615	T	0.2	-8.302	12.1898	0.54264	0.8723:0.0:0.0:0.1277	.	84	Q8WUU8	TM174_HUMAN	S	84	.	ENSP00000296776:T84S	T	+	1	0	TMEM174	72505076	1.000000	0.71417	0.996000	0.52242	0.554000	0.35429	4.769000	0.62300	2.311000	0.77944	0.533000	0.62120	ACA		0.532	TMEM174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254036.1	NM_153217		46	85	0	0	0	0	46	85				
ANKRD32	84250	broad.mit.edu	37	5	94030836	94030836	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr5:94030836C>A	ENST00000265140.5	+	21	3415	c.2996C>A	c.(2995-2997)aCc>aAc	p.T999N	ANKRD32_ENST00000493934.1_Intron	NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	999						centrosome (GO:0005813)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		CATAAAGAAACCACCAGTGTT	0.348																																						uc003kkr.3		NA																	0				ovary(2)	2						c.(2995-2997)ACC>AAC		ankyrin repeat domain 32							66.0	67.0	67.0					5																	94030836		2203	4299	6502	SO:0001583	missense	84250							g.chr5:94030836C>A	AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"""Ankyrin repeat domain containing"""	25408	protein-coding gene	gene with protein product			"""BRCT domain containing 1"""	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.2996C>A	5.37:g.94030836C>A	ENSP00000265140:p.Thr999Asn					ANKRD32_uc003kks.2_Missense_Mutation_p.T363N	p.T999N	NM_032290	NP_115666	Q9BQI6	ANR32_HUMAN		all cancers(79;3.88e-18)	21	3076	+		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)	999					B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Missense_Mutation	SNP	ENST00000265140.5	37	c.2996C>A	CCDS4071.2	.	.	.	.	.	.	.	.	.	.	C	10.46	1.356986	0.24598	.	.	ENSG00000133302	ENST00000265140	T	0.40476	1.03	5.46	4.54	0.55810	.	0.441905	0.22207	N	0.063146	T	0.27489	0.0675	N	0.24115	0.695	0.09310	N	1	B	0.16396	0.017	B	0.09377	0.004	T	0.07770	-1.0755	10	0.31617	T	0.26	.	10.5297	0.44969	0.1322:0.6385:0.2293:0.0	.	999	Q9BQI6	ANR32_HUMAN	N	999	ENSP00000265140:T999N	ENSP00000265140:T999N	T	+	2	0	ANKRD32	94056592	0.001000	0.12720	0.978000	0.43139	0.992000	0.81027	1.019000	0.30014	2.579000	0.87056	0.591000	0.81541	ACC		0.348	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241610.1	NM_032290		9	35	1	0	0.00621372	0.00664143	9	35				
ARSK	153642	broad.mit.edu	37	5	94936601	94936601	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr5:94936601C>T	ENST00000380009.4	+	7	1352	c.1147C>T	c.(1147-1149)Ccg>Tcg	p.P383S		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	383					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		CTCTTTGTTGCCGTTATCATC	0.358																																						uc003kld.2		NA																	0				pancreas(1)	1						c.(1147-1149)CCG>TCG		arylsulfatase K precursor							140.0	137.0	138.0					5																	94936601		2203	4300	6503	SO:0001583	missense	153642					extracellular region	arylsulfatase activity|metal ion binding	g.chr5:94936601C>T		CCDS4073.1	5q15	2013-02-14	2006-03-07		ENSG00000164291	ENSG00000164291		"""Arylsulfatase family"""	25239	protein-coding gene	gene with protein product		610011	"""arylsulfatase K"""			12975309, 16174644	Standard	NM_198150		Approved	DKFZp313G1735, TSULF	uc003kld.3	Q6UWY0	OTTHUMG00000121166	ENST00000380009.4:c.1147C>T	5.37:g.94936601C>T	ENSP00000369346:p.Pro383Ser					ARSK_uc010jbg.2_Missense_Mutation_p.P224S|ARSK_uc011cum.1_RNA	p.P383S	NM_198150	NP_937793	Q6UWY0	ARSK_HUMAN		all cancers(79;6.5e-16)	7	1305	+		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)	383					A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	Missense_Mutation	SNP	ENST00000380009.4	37	c.1147C>T	CCDS4073.1	.	.	.	.	.	.	.	.	.	.	c	16.72	3.201596	0.58234	.	.	ENSG00000164291	ENST00000380009	D	0.99913	-7.97	5.83	4.05	0.47172	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.161543	0.56097	N	0.000028	D	0.99638	0.9867	L	0.58969	1.84	0.80722	D	1	P	0.48998	0.918	B	0.41691	0.364	D	0.97134	0.9820	10	0.59425	D	0.04	-6.8938	11.5765	0.50864	0.1247:0.8105:0.0:0.0648	.	383	Q6UWY0	ARSK_HUMAN	S	383	ENSP00000369346:P383S	ENSP00000369346:P383S	P	+	1	0	ARSK	94962357	1.000000	0.71417	0.995000	0.50966	0.954000	0.61252	2.347000	0.44036	0.805000	0.34159	-0.127000	0.14921	CCG		0.358	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241652.2	NM_198150		21	36	0	0	0	0	21	36				
DMXL1	1657	broad.mit.edu	37	5	118445852	118445852	+	Missense_Mutation	SNP	G	G	A	rs547590187		TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr5:118445852G>A	ENST00000311085.8	+	5	451	c.371G>A	c.(370-372)cGt>cAt	p.R124H	DMXL1_ENST00000539542.1_Missense_Mutation_p.R124H	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	124										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TTAGGCAGTCGTCTTTTAACT	0.284													G|||	1	0.000199681	0.0	0.0	5008	,	,		16283	0.0		0.0	False		,,,				2504	0.001					uc003ksd.2		NA																	0				ovary(2)	2						c.(370-372)CGT>CAT		Dmx-like 1							47.0	50.0	49.0					5																	118445852		2199	4299	6498	SO:0001583	missense	1657							g.chr5:118445852G>A	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.371G>A	5.37:g.118445852G>A	ENSP00000309690:p.Arg124His					DMXL1_uc010jcl.1_Missense_Mutation_p.R124H|DMXL1_uc003ksc.1_Missense_Mutation_p.R124H	p.R124H	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	5	552	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	124			WD 1.			Missense_Mutation	SNP	ENST00000311085.8	37	c.371G>A	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.111305	0.77210	.	.	ENSG00000172869	ENST00000503802;ENST00000311085;ENST00000539542	T;T;T	0.66099	2.75;-0.19;2.75	4.61	3.66	0.41972	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.230397	0.44483	D	0.000451	T	0.73321	0.3572	M	0.72353	2.195	0.44254	D	0.997109	D;D	0.76494	0.999;0.999	P;P	0.59948	0.866;0.739	T	0.76288	-0.3014	10	0.52906	T	0.07	-13.3141	13.6748	0.62447	0.0:0.0:0.8448:0.1552	.	124;124	F5H269;Q9Y485	.;DMXL1_HUMAN	H	124	ENSP00000427692:R124H;ENSP00000309690:R124H;ENSP00000439479:R124H	ENSP00000309690:R124H	R	+	2	0	DMXL1	118473751	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.033000	0.57282	2.271000	0.75665	0.467000	0.42956	CGT		0.284	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		7	17	0	0	0	0	7	17				
ZNF608	57507	broad.mit.edu	37	5	124080411	124080411	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr5:124080411G>C	ENST00000306315.5	-	1	707	c.272C>G	c.(271-273)tCt>tGt	p.S91C	ZNF608_ENST00000504926.1_5'Flank	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	91							metal ion binding (GO:0046872)	p.S91F(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CTGGGGAGCAGAGGCCTGAAC	0.498																																						uc003ktq.1		NA																	1	Substitution - Missense(1)		breast(1)	skin(3)|ovary(2)|lung(1)	6						c.(271-273)TCT>TGT		zinc finger protein 608							86.0	81.0	83.0					5																	124080411		2203	4300	6503	SO:0001583	missense	57507					intracellular	zinc ion binding	g.chr5:124080411G>C	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.272C>G	5.37:g.124080411G>C	ENSP00000307746:p.Ser91Cys					ZNF608_uc003ktr.1_RNA|ZNF608_uc003kts.1_Missense_Mutation_p.S91C|ZNF608_uc003ktt.1_Missense_Mutation_p.S91C	p.S91C	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	1	395	-		all_cancers(142;0.186)|Prostate(80;0.081)	91					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	c.272C>G	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058751	0.55325	.	.	ENSG00000168916	ENST00000306315;ENST00000509799;ENST00000513986	T	0.54279	0.58	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000011	T	0.53738	0.1815	L	0.59436	1.845	0.42832	D	0.994028	B	0.18610	0.029	B	0.17433	0.018	T	0.51965	-0.8638	10	0.54805	T	0.06	-13.3114	19.2512	0.93926	0.0:0.0:1.0:0.0	.	91	Q9ULD9	ZN608_HUMAN	C	91	ENSP00000307746:S91C	ENSP00000307746:S91C	S	-	2	0	ZNF608	124108310	1.000000	0.71417	0.993000	0.49108	0.947000	0.59692	2.799000	0.47892	2.719000	0.93026	0.655000	0.94253	TCT		0.498	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		4	61	0	0	0	0	4	61				
ADAMTS19	171019	broad.mit.edu	37	5	128983577	128983577	+	Silent	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr5:128983577C>T	ENST00000274487.4	+	12	2119	c.1974C>T	c.(1972-1974)cgC>cgT	p.R658R	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	658	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GTCGAGAGCGCAAATGTCCTG	0.507																																						uc003kvb.1		NA																	0				ovary(5)|breast(2)|lung(1)|skin(1)	9						c.(1972-1974)CGC>CGT		ADAM metallopeptidase with thrombospondin type 1							123.0	121.0	122.0					5																	128983577		2203	4300	6503	SO:0001819	synonymous_variant	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128983577C>T	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1974C>T	5.37:g.128983577C>T						ADAMTS19_uc010jdh.1_RNA	p.R658R	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	12	1974	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	658			TSP type-1 1.			Silent	SNP	ENST00000274487.4	37	c.1974C>T	CCDS4146.1																																																																																				0.507	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		43	91	0	0	0	0	43	91				
RAPGEF6	51735	broad.mit.edu	37	5	130897676	130897676	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr5:130897676T>A	ENST00000509018.1	-	5	551	c.346A>T	c.(346-348)Att>Ttt	p.I116F	RAPGEF6_ENST00000510071.1_Missense_Mutation_p.I116F|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.I166F|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.I116F|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.I116F|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.I116F|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.I116F|RAPGEF6_ENST00000503398.2_Intron	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	116					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CTTACCACAATCATTTCTGAA	0.303																																					Melanoma(168;435 1955 13113 13877 23213)	uc003kvn.1		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(346-348)ATT>TTT		PDZ domain-containing guanine nucleotide							124.0	131.0	128.0					5																	130897676		2203	4296	6499	SO:0001583	missense	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130897676T>A	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.346A>T	5.37:g.130897676T>A	ENSP00000421684:p.Ile116Phe					RAPGEF6_uc003kvp.1_Missense_Mutation_p.I166F|RAPGEF6_uc003kvo.1_Missense_Mutation_p.I116F|RAPGEF6_uc010jdi.1_Missense_Mutation_p.I116F|RAPGEF6_uc010jdj.1_Missense_Mutation_p.I116F|RAPGEF6_uc003kvr.2_Missense_Mutation_p.I116F|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Missense_Mutation_p.I116F	p.I116F	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	5	552	-			116					A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	c.346A>T	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.265147	0.80358	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000308008;ENST00000510071;ENST00000514667	T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.95	5.95	0.96441	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.000000	0.85682	D	0.000000	T	0.65354	0.2683	M	0.77103	2.36	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;1.0;0.999	D;D;D;D;D;D	0.80764	0.986;0.986;0.977;0.986;0.994;0.991	T	0.69595	-0.5103	10	0.87932	D	0	.	13.9416	0.64059	0.0:0.0:0.0:1.0	.	116;116;116;166;116;116	A3KN82;B7ZML2;Q8TEU7-2;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;RPGF6_HUMAN	F	116;116;116;116;116;116;116;166	ENSP00000421684:I116F;ENSP00000309298:I116F;ENSP00000426081:I116F;ENSP00000296859:I116F;ENSP00000311419:I116F;ENSP00000425389:I116F;ENSP00000426948:I166F	ENSP00000426948:I166F	I	-	1	0	RAPGEF6;FNIP1	130925575	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.275000	0.58927	2.278000	0.76064	0.533000	0.62120	ATT		0.303	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		14	43	0	0	0	0	14	43				
PCDHB16	57717	broad.mit.edu	37	5	140564246	140564246	+	Silent	SNP	G	G	A	rs199724593		TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr5:140564246G>A	ENST00000361016.2	+	1	3267	c.2112G>A	c.(2110-2112)tcG>tcA	p.S704S		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	704					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTCTTTTCGGTGCTCCTGT	0.697																																						uc003liv.2		NA																	0				ovary(1)|pancreas(1)	2						c.(2110-2112)TCG>TCA		protocadherin beta 16 precursor							73.0	81.0	78.0					5																	140564246		2199	4293	6492	SO:0001819	synonymous_variant	57717				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140564246G>A	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.2112G>A	5.37:g.140564246G>A						PCDHB9_uc003liw.1_5'Flank	p.S704S	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	3267	+			704			Helical; (Potential).		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	c.2112G>A	CCDS4251.1																																																																																				0.697	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		16	274	0	0	0	0	16	274				
GABRB2	2561	broad.mit.edu	37	5	160758103	160758103	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr5:160758103G>C	ENST00000393959.1	-	8	863	c.864C>G	c.(862-864)atC>atG	p.I288M	GABRB2_ENST00000517901.1_Missense_Mutation_p.I225M|GABRB2_ENST00000274547.2_Missense_Mutation_p.I288M|GABRB2_ENST00000520240.1_Missense_Mutation_p.I288M|GABRB2_ENST00000353437.6_Missense_Mutation_p.I288M|GABRB2_ENST00000517547.1_Missense_Mutation_p.I128M			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	288					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGTGGGTGTTGATTGTGGTCA	0.428																																						uc003lys.1		NA																	0					0						c.(862-864)ATC>ATG		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						174.0	180.0	178.0					5																	160758103		2203	4300	6503	SO:0001583	missense	2561				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160758103G>C		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.864C>G	5.37:g.160758103G>C	ENSP00000377531:p.Ile288Met					GABRB2_uc011deh.1_Missense_Mutation_p.I127M|GABRB2_uc003lyr.1_Missense_Mutation_p.I288M|GABRB2_uc003lyt.1_Missense_Mutation_p.I288M|GABRB2_uc010jiu.1_Missense_Mutation_p.I225M	p.I288M	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	1082	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	288			Helical; (Probable).		A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	ENST00000393959.1	37	c.864C>G	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.205365	0.58234	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901;ENST00000517547	T;T;D;D;D;D	0.86230	-0.6;-0.6;-2.09;-2.09;-2.09;-2.09	5.17	5.17	0.71159	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.053886	0.64402	D	0.000001	D	0.88897	0.6562	L	0.37507	1.11	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.999	D	0.88849	0.3318	10	0.66056	D	0.02	.	9.1581	0.37005	0.1696:0.0:0.8304:0.0	.	128;225;288;288	B7Z279;E7EV50;P47870;P47870-1	.;.;GBRB2_HUMAN;.	M	288;288;288;288;225;128	ENSP00000377531:I288M;ENSP00000274547:I288M;ENSP00000274546:I288M;ENSP00000429320:I288M;ENSP00000430532:I225M;ENSP00000429750:I128M	ENSP00000274547:I288M	I	-	3	3	GABRB2	160690681	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.396000	0.34531	2.400000	0.81607	0.563000	0.77884	ATC		0.428	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			46	81	0	0	0	0	46	81				
GFOD1	54438	broad.mit.edu	37	6	13365330	13365330	+	Missense_Mutation	SNP	G	G	A	rs552590164	byFrequency	TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr6:13365330G>A	ENST00000379287.3	-	2	1482	c.818C>T	c.(817-819)cCg>cTg	p.P273L	GFOD1_ENST00000379284.1_Missense_Mutation_p.P170L	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	273						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			CTCCTGCTCCGGGGCGCTGTT	0.697													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17273	0.0		0.0	False		,,,				2504	0.0					uc003nat.1		NA																	0				ovary(2)	2						c.(817-819)CCG>CTG		glucose-fructose oxidoreductase domain							27.0	29.0	28.0					6																	13365330		2203	4296	6499	SO:0001583	missense	54438					extracellular region	binding|oxidoreductase activity	g.chr6:13365330G>A	AK000337	CCDS4524.1, CCDS56397.1, CCDS64351.1	6p24.1-p23	2013-09-19			ENSG00000145990	ENSG00000145990			21096	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 114"""	C6orf114			Standard	NM_018988		Approved	FLJ20330, ADG-90	uc003nat.2	Q9NXC2	OTTHUMG00000014276	ENST00000379287.3:c.818C>T	6.37:g.13365330G>A	ENSP00000368589:p.Pro273Leu					GFOD1_uc003nas.1_Missense_Mutation_p.P170L	p.P273L	NM_018988	NP_061861	Q9NXC2	GFOD1_HUMAN	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)		2	1483	-	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	273					A8E4L6|Q5T058|Q96JD4|Q9H5K2	Missense_Mutation	SNP	ENST00000379287.3	37	c.818C>T	CCDS4524.1	.	.	.	.	.	.	.	.	.	.	G	9.360	1.067719	0.20067	.	.	ENSG00000145990	ENST00000379287;ENST00000379284	T;T	0.44482	1.47;0.92	5.73	5.73	0.89815	.	0.456119	0.25801	N	0.028205	T	0.11836	0.0288	N	0.04508	-0.205	0.25777	N	0.984779	B	0.02656	0.0	B	0.04013	0.001	T	0.08806	-1.0704	10	0.27082	T	0.32	-31.5439	18.8981	0.92432	0.0:0.0:1.0:0.0	.	273	Q9NXC2	GFOD1_HUMAN	L	273;170	ENSP00000368589:P273L;ENSP00000368586:P170L	ENSP00000368586:P170L	P	-	2	0	GFOD1	13473309	0.965000	0.33210	0.007000	0.13788	0.647000	0.38526	5.415000	0.66411	2.691000	0.91804	0.650000	0.86243	CCG		0.697	GFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039902.1	NM_018988		32	16	0	0	0	0	32	16				
TNXB	7148	broad.mit.edu	37	6	32041664	32041664	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr6:32041664T>C	ENST00000375244.3	-	12	4642	c.4441A>G	c.(4441-4443)Aca>Gca	p.T1481A	TNXB_ENST00000375247.2_Missense_Mutation_p.T1481A			P22105	TENX_HUMAN	tenascin XB	1568	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCTGTCACTGTCAGCTCTCCT	0.587																																						uc003nzl.2		NA																	0					0						c.(4441-4443)ACA>GCA		tenascin XB isoform 1 precursor							31.0	34.0	33.0					6																	32041664		1251	2552	3803	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32041664T>C	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.4441A>G	6.37:g.32041664T>C	ENSP00000364393:p.Thr1481Ala						p.T1481A	NM_019105	NP_061978	P22105	TENX_HUMAN			12	4643	-			1568			Fibronectin type-III 8.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.4441A>G		.	.	.	.	.	.	.	.	.	.	T	11.71	1.720104	0.30503	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.58797	0.31;0.31	5.46	2.85	0.33270	.	0.161132	0.29192	N	0.012868	T	0.40862	0.1134	M	0.86178	2.8	0.23243	N	0.998053	B	0.29531	0.247	B	0.41466	0.358	T	0.46857	-0.9161	10	0.10902	T	0.67	.	4.3532	0.11165	0.2484:0.0897:0.0:0.6619	.	1481	P22105-3	.	A	1481	ENSP00000364393:T1481A;ENSP00000364396:T1481A	ENSP00000364393:T1481A	T	-	1	0	TNXB	32149642	0.998000	0.40836	1.000000	0.80357	0.379000	0.30106	1.359000	0.34113	0.858000	0.35431	0.443000	0.29094	ACA		0.587	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		4	14	0	0	0	0	4	14				
TCP11	6954	broad.mit.edu	37	6	35088707	35088707	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr6:35088707C>A	ENST00000512012.1	-	5	850	c.694G>T	c.(694-696)Gaa>Taa	p.E232*	TCP11_ENST00000418521.2_Nonsense_Mutation_p.E169*|TCP11_ENST00000244645.3_Nonsense_Mutation_p.E170*|TCP11_ENST00000444780.2_Nonsense_Mutation_p.E240*|TCP11_ENST00000311875.5_Nonsense_Mutation_p.E245*|TCP11_ENST00000373974.4_Nonsense_Mutation_p.E199*|TCP11_ENST00000412155.2_Nonsense_Mutation_p.E194*|TCP11_ENST00000373979.2_Nonsense_Mutation_p.E170*			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	232					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						TTGAGGAGTTCCTGGAATTTA	0.443																																						uc003okd.2		NA																	0				ovary(3)|skin(2)	5						c.(733-735)GAA>TAA		t-complex 11 isoform 1							303.0	314.0	310.0					6																	35088707		2203	4300	6503	SO:0001587	stop_gained	6954				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr6:35088707C>A		CCDS4799.1, CCDS47413.1, CCDS59015.1, CCDS59016.1, CCDS59017.1, CCDS59018.1	6p21.31	2012-09-20	2012-09-20		ENSG00000124678	ENSG00000124678			11658	protein-coding gene	gene with protein product	"""fertilization-promoting peptide receptor"""	186982	"""t-complex 11 (a murine tcp homolog)"", ""t-complex 11 homolog (mouse)"""	D6S230E		1427894, 11756566, 21597245	Standard	NM_001093728		Approved	KIAA0229, FPPR	uc003okd.2	Q8WWU5	OTTHUMG00000014560	ENST00000512012.1:c.694G>T	6.37:g.35088707C>A	ENSP00000425995:p.Glu232*					TCP11_uc003ojz.1_Nonsense_Mutation_p.E170*|TCP11_uc003oka.2_Nonsense_Mutation_p.E170*|TCP11_uc003okb.2_Nonsense_Mutation_p.E169*|TCP11_uc003okc.2_Nonsense_Mutation_p.E169*|TCP11_uc011dsu.1_Nonsense_Mutation_p.E227*|TCP11_uc011dsv.1_Nonsense_Mutation_p.E194*|TCP11_uc011dsw.1_Nonsense_Mutation_p.E199*	p.E245*	NM_001093728	NP_001087197	Q8WWU5	TCP11_HUMAN			6	914	-			232					B2RCE9|B3KQ27|B7Z7B5|B7Z7G1|B7Z7H4|B7Z7S8|E7EP29|J3KNG1|Q8NF85|Q9NQZ9|Q9NR39	Nonsense_Mutation	SNP	ENST00000512012.1	37	c.733G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	7.120811|7.120811	0.98077|0.98077	.|.	.|.	ENSG00000124678|ENSG00000124678	ENST00000373979;ENST00000412155;ENST00000244645;ENST00000373977;ENST00000311875;ENST00000444780;ENST00000373974;ENST00000418521;ENST00000512012;ENST00000486638|ENST00000502480	.|.	.|.	.|.	4.32|4.32	4.32|4.32	0.51571|0.51571	.|.	0.196329|.	0.43919|.	D|.	0.000515|.	.|T	.|0.44265	.|0.1285	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.41233	.|-0.9520	.|3	0.18710|.	T|.	0.47|.	-23.1138|-23.1138	11.928|11.928	0.52831|0.52831	0.0:0.9121:0.0:0.0879|0.0:0.9121:0.0:0.0879	.|.	.|.	.|.	.|.	X|V	170;194;170;194;245;240;199;169;232;91|39	.|.	ENSP00000244645:E170X|.	E|G	-|-	1|2	0|0	TCP11|TCP11	35196685|35196685	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.605000|0.605000	0.37080|0.37080	2.265000|2.265000	0.43311|0.43311	2.401000|2.401000	0.81631|0.81631	0.563000|0.563000	0.77884|0.77884	GAA|GGA		0.443	TCP11-014	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000370354.1	NM_001093728		94	276	1	0	1.41e-40	1.85e-40	94	276				
DNAH8	1769	broad.mit.edu	37	6	38843395	38843395	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr6:38843395C>T	ENST00000359357.3	+	51	7252	c.6998C>T	c.(6997-6999)cCc>cTc	p.P2333L	DNAH8_ENST00000449981.2_Missense_Mutation_p.P2550L|DNAH8_ENST00000441566.1_Missense_Mutation_p.P2297L			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2333					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGGTTAATTCCCTCCAAAGAA	0.303																																						uc003ooe.1		NA																	0				skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(6997-6999)CCC>CTC		dynein, axonemal, heavy polypeptide 8							59.0	57.0	58.0					6																	38843395		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38843395C>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.6998C>T	6.37:g.38843395C>T	ENSP00000352312:p.Pro2333Leu						p.P2333L	NM_001371	NP_001362					51	7598	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.6998C>T		.	.	.	.	.	.	.	.	.	.	C	20.5	4.004332	0.74932	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.26067	1.77;1.76;1.76	5.62	5.62	0.85841	.	0.053975	0.85682	D	0.000000	T	0.36799	0.0980	L	0.61036	1.89	0.80722	D	1	D	0.62365	0.991	P	0.61477	0.889	T	0.01734	-1.1285	10	0.34782	T	0.22	.	17.8569	0.88767	0.0:1.0:0.0:0.0	.	2333	Q96JB1	DYH8_HUMAN	L	2538;2538;2333;2297	ENSP00000333363:P2538L;ENSP00000352312:P2333L;ENSP00000402294:P2297L	ENSP00000333363:P2538L	P	+	2	0	DNAH8	38951373	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.022000	0.57203	2.660000	0.90430	0.655000	0.94253	CCC		0.303	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		24	5	0	0	0	0	24	5				
BYSL	705	broad.mit.edu	37	6	41899233	41899233	+	Silent	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr6:41899233C>T	ENST00000230340.4	+	5	1179	c.804C>T	c.(802-804)ctC>ctT	p.L268L		NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	268					cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|female pregnancy (GO:0007565)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|trophectodermal cell differentiation (GO:0001829)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ACAAACGACTCAACTTCCATC	0.522																																						uc003orl.2		NA																	0					0						c.(802-804)CTC>CTT		bystin							111.0	107.0	108.0					6																	41899233		2203	4300	6503	SO:0001819	synonymous_variant	705				cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus		g.chr6:41899233C>T	L36720	CCDS34450.1	6p21.1	2008-08-29			ENSG00000112578	ENSG00000112578			1157	protein-coding gene	gene with protein product		603871				9925933, 17381424	Standard	NM_004053		Approved		uc003orl.3	Q13895	OTTHUMG00000014687	ENST00000230340.4:c.804C>T	6.37:g.41899233C>T							p.L268L	NM_004053	NP_004044	Q13895	BYST_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		5	1140	+	Colorectal(47;0.121)		268					Q6P5W4|Q86W44|Q96IP8	Silent	SNP	ENST00000230340.4	37	c.804C>T	CCDS34450.1																																																																																				0.522	BYSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040535.2			31	80	0	0	0	0	31	80				
RRP36	88745	broad.mit.edu	37	6	42996851	42996851	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr6:42996851T>A	ENST00000244496.5	+	7	675	c.665T>A	c.(664-666)cTa>cAa	p.L222Q		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	222					ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						CAGTTGGCACTAGCTGAGAAG	0.483																																						uc003otp.1		NA																	0					0						c.(664-666)CTA>CAA		hypothetical protein LOC88745							173.0	179.0	177.0					6																	42996851		2203	4300	6503	SO:0001583	missense	88745				ribosomal small subunit biogenesis|rRNA processing	nucleolus		g.chr6:42996851T>A	BC011933	CCDS34453.1	6p21.1	2010-07-06	2010-07-06	2010-07-06	ENSG00000124541	ENSG00000124541			21374	protein-coding gene	gene with protein product		613475	"""chromosome 6 open reading frame 153"""	C6orf153		20038530	Standard	NM_033112		Approved	dJ20C7.4	uc003otp.1	Q96EU6	OTTHUMG00000014715	ENST00000244496.5:c.665T>A	6.37:g.42996851T>A	ENSP00000244496:p.Leu222Gln						p.L222Q	NM_033112	NP_149103	Q96EU6	RRP36_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)		7	673	+			222					Q9BRF6|Q9P0C8	Missense_Mutation	SNP	ENST00000244496.5	37	c.665T>A	CCDS34453.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.303708	0.81136	.	.	ENSG00000124541	ENST00000244496	T	0.55234	0.53	5.37	5.37	0.77165	.	0.203527	0.31554	N	0.007452	T	0.59390	0.2190	M	0.63169	1.94	0.51233	D	0.99991	D	0.89917	1.0	D	0.91635	0.999	T	0.57266	-0.7841	10	0.26408	T	0.33	.	13.9207	0.63930	0.0:0.0:0.0:1.0	.	222	Q96EU6	RRP36_HUMAN	Q	222	ENSP00000244496:L222Q	ENSP00000244496:L222Q	L	+	2	0	RRP36	43104829	1.000000	0.71417	0.096000	0.21009	0.962000	0.63368	6.015000	0.70791	2.186000	0.69663	0.455000	0.32223	CTA		0.483	RRP36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040572.1	NM_033112		192	285	0	0	0	0	192	285				
RSPH9	221421	broad.mit.edu	37	6	43618143	43618143	+	Missense_Mutation	SNP	C	C	A	rs373658809		TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr6:43618143C>A	ENST00000372163.4	+	2	312	c.259C>A	c.(259-261)Cct>Act	p.P87T	RSPH9_ENST00000372165.4_Missense_Mutation_p.P87T	NM_152732.4	NP_689945.2	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog (Chlamydomonas)	87					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CCTCTTGCCCCCTGCCACAGA	0.537									Kartagener syndrome																													uc003ovw.1		NA																	0				upper_aerodigestive_tract(1)|skin(1)	2						c.(259-261)CCT>ACT		radial spoke head 9 homolog							93.0	87.0	89.0					6																	43618143		2203	4300	6503	SO:0001583	missense	221421	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton		g.chr6:43618143C>A	AK055407	CCDS4905.1, CCDS55005.1	6p21.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000172426	ENSG00000172426			21057	protein-coding gene	gene with protein product		612648	"""mitochondrial ribosomal protein S18A-like 1"", ""chromosome 6 open reading frame 206"""	MRPS18AL1, C6orf206		19200523	Standard	NM_152732		Approved	FLJ30845, CILD12	uc003ovx.2	Q9H1X1	OTTHUMG00000014746	ENST00000372163.4:c.259C>A	6.37:g.43618143C>A	ENSP00000361236:p.Pro87Thr					RSPH9_uc003ovx.1_Missense_Mutation_p.P87T	p.P87T	NM_152732	NP_689945	Q9H1X1	RSPH9_HUMAN			2	285	+			87					A8K5T4|Q96NH9	Missense_Mutation	SNP	ENST00000372163.4	37	c.259C>A	CCDS4905.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	16.98|16.98	3.270758|3.270758	0.59540|0.59540	.|.	.|.	ENSG00000172426|ENSG00000172426	ENST00000417236|ENST00000372165;ENST00000372163;ENST00000372154	.|T	.|0.43688	.|0.94	4.48|4.48	4.48|4.48	0.54585|0.54585	.|.	0.283692|0.283692	0.39615|0.39615	N|N	0.001309|0.001309	T|T	0.29223|0.29223	0.0727|0.0727	L|L	0.50333|0.50333	1.59|1.59	0.50313|0.50313	D|D	0.999869|0.999869	.|P;B	.|0.48694	.|0.914;0.282	.|P;B	.|0.45946	.|0.498;0.118	T|T	0.03597|0.03597	-1.1021|-1.1021	7|10	0.87932|0.23891	D|T	0|0.37	.|.	14.7292|14.7292	0.69368|0.69368	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|87;87	.|Q96NH9;Q9H1X1	.|.;RSPH9_HUMAN	H|T	11|87;87;55	.|ENSP00000361236:P87T	ENSP00000412040:P11H|ENSP00000361227:P55T	P|P	+|+	2|1	0|0	RSPH9|RSPH9	43726121|43726121	0.995000|0.995000	0.38212|0.38212	0.997000|0.997000	0.53966|0.53966	0.976000|0.976000	0.68499|0.68499	4.028000|4.028000	0.57246|0.57246	2.028000|2.028000	0.59812|0.59812	0.473000|0.473000	0.43528|0.43528	CCC|CCT		0.537	RSPH9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040690.1	NM_152732		14	81	1	0	0.000151284	0.000168462	14	81				
HMGCLL1	54511	broad.mit.edu	37	6	55304315	55304315	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr6:55304315C>T	ENST00000398661.2	-	9	1059	c.928G>A	c.(928-930)Ggc>Agc	p.G310S	HMGCLL1_ENST00000370850.2_Missense_Mutation_p.G177S|HMGCLL1_ENST00000507223.1_5'UTR|HMGCLL1_ENST00000508459.1_Missense_Mutation_p.G114S|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.G248S|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.G280S	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	310					ketone body biosynthetic process (GO:0046951)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			TAAGGGCAGCCACCTAATCCG	0.428																																					Ovarian(35;840 893 7837 15538 42887)	uc003pcn.2		NA																	0				skin(2)|ovary(1)|pancreas(1)	4						c.(928-930)GGC>AGC		3-hydroxymethyl-3-methylglutaryl-Coenzyme A							102.0	96.0	98.0					6																	55304315		1876	4108	5984	SO:0001583	missense	54511						hydroxymethylglutaryl-CoA lyase activity|metal ion binding	g.chr6:55304315C>T	AK055075	CCDS43474.1, CCDS43475.1, CCDS75472.1, CCDS75473.1	6p12.1	2010-04-30	2010-04-30		ENSG00000146151	ENSG00000146151			21359	protein-coding gene	gene with protein product			"""3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1"""			8619474, 9110174	Standard	NM_001042406		Approved	DKFZP434G1411, bA418P12.1	uc003pcn.3	Q8TB92	OTTHUMG00000014902	ENST00000398661.2:c.928G>A	6.37:g.55304315C>T	ENSP00000381654:p.Gly310Ser					HMGCLL1_uc003pco.2_Missense_Mutation_p.G280S|HMGCLL1_uc010jzx.2_Missense_Mutation_p.G181S|HMGCLL1_uc011dxc.1_Missense_Mutation_p.G248S|HMGCLL1_uc011dxd.1_Missense_Mutation_p.G177S|HMGCLL1_uc011dxe.1_Missense_Mutation_p.G114S	p.G310S	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		9	1087	-	Lung NSC(77;0.0875)		310					B1AQ42|B3KNV0|B7Z1S7|F8W793|Q6ZSA9	Missense_Mutation	SNP	ENST00000398661.2	37	c.928G>A	CCDS43475.1	.	.	.	.	.	.	.	.	.	.	c	25.6	4.653134	0.88056	.	.	ENSG00000146151	ENST00000274901;ENST00000398661;ENST00000370850;ENST00000508459;ENST00000308161	D;D;D;D;D	0.98567	-5.0;-5.0;-4.63;-5.0;-5.0	5.53	5.53	0.82687	Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (2);	0.107623	0.64402	D	0.000004	D	0.99533	0.9833	H	0.98918	4.37	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;0.999	D;D;D;D;D	0.91635	0.998;0.999;0.995;0.994;0.997	D	0.97965	1.0340	10	0.87932	D	0	-19.3996	19.5206	0.95183	0.0:1.0:0.0:0.0	.	114;177;248;280;310	B7Z4D4;B7Z212;F8W793;Q8TB92-2;Q8TB92	.;.;.;.;HMGC2_HUMAN	S	280;310;177;114;248	ENSP00000274901:G280S;ENSP00000381654:G310S;ENSP00000359887:G177S;ENSP00000424309:G114S;ENSP00000309737:G248S	ENSP00000274901:G280S	G	-	1	0	HMGCLL1	55412274	1.000000	0.71417	0.917000	0.36280	0.453000	0.32348	7.781000	0.85668	2.612000	0.88384	0.539000	0.68188	GGC		0.428	HMGCLL1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360290.1	XM_166383		38	41	0	0	0	0	38	41				
ZNF451	26036	broad.mit.edu	37	6	56997899	56997899	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr6:56997899A>C	ENST00000370706.4	+	6	728	c.484A>C	c.(484-486)Acg>Ccg	p.T162P	ZNF451_ENST00000357489.3_Missense_Mutation_p.T162P|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.T162P|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	162					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AGGAGGCCACACGTGGGTGTC	0.393																																						uc003pdm.1		NA																	0				ovary(1)|pancreas(1)	2						c.(484-486)ACG>CCG		zinc finger protein 451 isoform 1							114.0	111.0	112.0					6																	56997899		2203	4300	6503	SO:0001583	missense	26036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:56997899A>C	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.484A>C	6.37:g.56997899A>C	ENSP00000359740:p.Thr162Pro					ZNF451_uc003pdl.2_Missense_Mutation_p.T162P|ZNF451_uc003pdn.1_Missense_Mutation_p.T162P|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.T162P	p.T162P	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		6	708	+	Lung NSC(77;0.145)		162					Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	ENST00000370706.4	37	c.484A>C	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	A	9.792	1.178198	0.21787	.	.	ENSG00000112200	ENST00000515290;ENST00000510483;ENST00000370706;ENST00000357489;ENST00000491832	T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2	5.32	5.32	0.75619	.	0.653288	0.16927	N	0.193860	T	0.02047	0.0064	N	0.08118	0	0.80722	D	1	P;B;B;B	0.36874	0.572;0.176;0.001;0.437	B;B;B;B	0.33121	0.158;0.075;0.001;0.12	T	0.57347	-0.7827	10	0.30854	T	0.27	0.001	15.2429	0.73485	1.0:0.0:0.0:0.0	.	162;162;162;162	Q9Y4E5-2;Q9Y4E5;E9PH99;Q4KMR5	.;ZN451_HUMAN;.;.	P	23;134;162;162;162	ENSP00000424723:T23P;ENSP00000427558:T134P;ENSP00000359740:T162P;ENSP00000350083:T162P;ENSP00000421645:T162P	ENSP00000350083:T162P	T	+	1	0	ZNF451	57105858	0.445000	0.25657	0.099000	0.21106	0.051000	0.14879	2.588000	0.46137	2.130000	0.65690	0.528000	0.53228	ACG		0.393	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555		15	47	0	0	0	0	15	47				
MANEA	79694	broad.mit.edu	37	6	96053864	96053864	+	Silent	SNP	T	T	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr6:96053864T>C	ENST00000358812.4	+	5	1106	c.972T>C	c.(970-972)ttT>ttC	p.F324F	MANEA_ENST00000474553.1_3'UTR	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	324	Catalytic. {ECO:0000305}.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		ACACATATTTTGCCACAAATG	0.343																																						uc003poo.1		NA																	0				ovary(2)|breast(1)	3						c.(970-972)TTT>TTC		mannosidase, endo-alpha							67.0	68.0	68.0					6																	96053864		2203	4300	6503	SO:0001819	synonymous_variant	79694				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity	g.chr6:96053864T>C	AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.972T>C	6.37:g.96053864T>C							p.F324F	NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.148)	5	1112	+		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)	324			Catalytic (Probable).|Lumenal (Potential).		A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Silent	SNP	ENST00000358812.4	37	c.972T>C	CCDS5032.1																																																																																				0.343	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043644.1	NM_024641		17	12	0	0	0	0	17	12				
USP45	85015	broad.mit.edu	37	6	99883592	99883592	+	Silent	SNP	T	T	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr6:99883592T>C	ENST00000327681.6	-	18	2977	c.2445A>G	c.(2443-2445)taA>taG	p.*815*	USP45_ENST00000539675.1_Silent_p.*108*|USP45_ENST00000392738.2_Silent_p.*495*|USP45_ENST00000369233.2_Silent_p.*767*|USP45_ENST00000500704.2_Silent_p.*815*	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	0					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		CCATTAATAGTTATAATACTC	0.363																																						uc003ppx.2		NA																	0				ovary(1)|breast(1)	2						c.(2443-2445)TAA>TAG		ubiquitin specific peptidase 45							83.0	89.0	87.0					6																	99883592		2203	4300	6503	SO:0001819	synonymous_variant	85015				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:99883592T>C	AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552		"""Ubiquitin-specific peptidases"""	20080	protein-coding gene	gene with protein product			"""ubiquitin specific protease 45"""			12838346	Standard	NM_001080481		Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.2445A>G	6.37:g.99883592T>C						USP45_uc003ppv.2_RNA|USP45_uc003ppw.2_Silent_p.*495*	p.*815*	NM_001080481	NP_001073950	Q70EL2	UBP45_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0718)	18	2978	-		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)	815					B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Silent	SNP	ENST00000327681.6	37	c.2445A>G	CCDS34501.1																																																																																				0.363	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041609.2	NM_032929		18	12	0	0	0	0	18	12				
OSTM1	28962	broad.mit.edu	37	6	108395812	108395812	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr6:108395812G>T	ENST00000193322.3	-	1	129	c.44C>A	c.(43-45)cCg>cAg	p.P15Q		NM_014028.3	NP_054747.2	Q86WC4	OSTM1_HUMAN	osteopetrosis associated transmembrane protein 1	15					ion transmembrane transport (GO:0034220)|osteoclast differentiation (GO:0030316)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)		BRCA - Breast invasive adenocarcinoma(108;0.0131)|Epithelial(106;0.0438)|OV - Ovarian serous cystadenocarcinoma(136;0.0571)|all cancers(137;0.0581)		CAGCCACGGCGGCAACGAACA	0.751																																					Melanoma(162;1427 1909 3096 17430 21396)	uc003psd.2		NA																	0				central_nervous_system(1)	1						c.(43-45)CCG>CAG		osteopetrosis associated transmembrane protein 1							3.0	4.0	4.0					6																	108395812		1790	3648	5438	SO:0001583	missense	28962					integral to membrane		g.chr6:108395812G>T	AF533891	CCDS5062.1	6q21	2014-06-17			ENSG00000081087	ENSG00000081087			21652	protein-coding gene	gene with protein product	"""CLCN7 accessory beta subunit"""	607649				12627228, 21527911	Standard	NM_014028		Approved	HSPC019, GL	uc003psd.3	Q86WC4	OTTHUMG00000015317	ENST00000193322.3:c.44C>A	6.37:g.108395812G>T	ENSP00000193322:p.Pro15Gln						p.P15Q	NM_014028	NP_054747	Q86WC4	OSTM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0131)|Epithelial(106;0.0438)|OV - Ovarian serous cystadenocarcinoma(136;0.0571)|all cancers(137;0.0581)	1	130	-		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)	15					E1P5E3|Q5R391|Q6PCA7|Q7RTW6|Q8NC29|Q8TC82|Q9Y2S9	Missense_Mutation	SNP	ENST00000193322.3	37	c.44C>A	CCDS5062.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.314001	0.60414	.	.	ENSG00000081087	ENST00000193322	T	0.43688	0.94	4.73	-3.44	0.04796	.	1.467820	0.04537	N	0.387312	T	0.14614	0.0353	L	0.44542	1.39	0.09310	N	1	B	0.23650	0.089	B	0.22386	0.039	T	0.40961	-0.9535	10	0.54805	T	0.06	-10.2952	6.0808	0.19940	0.2622:0.3048:0.433:0.0	.	15	Q86WC4	OSTM1_HUMAN	Q	15	ENSP00000193322:P15Q	ENSP00000193322:P15Q	P	-	2	0	OSTM1	108502505	0.011000	0.17503	0.004000	0.12327	0.017000	0.09413	-0.069000	0.11542	-0.377000	0.07930	-0.253000	0.11424	CCG		0.751	OSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041709.3	NM_014028		6	6	1	0	8.13e-05	9.09e-05	6	6				
AK9	221264	broad.mit.edu	37	6	109819090	109819090	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr6:109819090T>C	ENST00000424296.2	-	37	5201	c.5125A>G	c.(5125-5127)Aga>Gga	p.R1709G	RP5-919F19.5_ENST00000423747.2_RNA	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1709					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										AGTGTCAGTCTTTTGGGGATC	0.473																																						uc003ptn.2		NA																	0				ovary(1)	1						c.(5125-5127)AGA>GGA		adenylate kinase domain containing 1 isoform 1							140.0	133.0	135.0					6																	109819090		2203	4300	6503	SO:0001583	missense	221264				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity	g.chr6:109819090T>C	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.5125A>G	6.37:g.109819090T>C	ENSP00000410186:p.Arg1709Gly					AKD1_uc011eas.1_Missense_Mutation_p.R94G	p.R1709G	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN			37	5202	-			1709					A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	ENST00000424296.2	37	c.5125A>G	CCDS55048.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.44|14.44	2.536820|2.536820	0.45176|0.45176	.|.	.|.	ENSG00000155085|ENSG00000155085	ENST00000490722|ENST00000424296	.|T	.|0.66815	.|-0.23	5.33|5.33	4.12|4.12	0.48240|0.48240	.|.	.|0.145778	.|0.64402	.|D	.|0.000007	T|T	0.56702|0.56702	0.2003|0.2003	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	.|P;P	.|0.44734	.|0.804;0.842	.|B;B	.|0.42771	.|0.311;0.397	T|T	0.59979|0.59979	-0.7352|-0.7352	5|9	.|.	.|.	.|.	.|.	12.0882|12.0882	0.53710|0.53710	0.0:0.0:0.144:0.856|0.0:0.0:0.144:0.856	.|.	.|94;1709	.|B7ZL24;Q5TCS8	.|.;AKD1_HUMAN	R|G	109|1709	.|ENSP00000410186:R1709G	.|.	K|R	-|-	2|1	0|2	AKD1|AKD1	109925783|109925783	0.849000|0.849000	0.29639|0.29639	0.925000|0.925000	0.36789|0.36789	0.486000|0.486000	0.33341|0.33341	3.462000|3.462000	0.53042|0.53042	0.820000|0.820000	0.34516|0.34516	0.459000|0.459000	0.35465|0.35465	AAG|AGA		0.473	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128		22	27	0	0	0	0	22	27				
C6orf58	352999	broad.mit.edu	37	6	127911377	127911377	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr6:127911377A>G	ENST00000329722.7	+	5	832	c.820A>G	c.(820-822)Act>Gct	p.T274A		NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	274						extracellular vesicular exosome (GO:0070062)				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		TCTTCTTAATACTGATGTAGC	0.398																																						uc003qbh.2		NA																	0					0						c.(820-822)ACT>GCT		hypothetical protein LOC352999 precursor							174.0	173.0	173.0					6																	127911377		2203	4300	6503	SO:0001583	missense	352999					extracellular region		g.chr6:127911377A>G	BC062712	CCDS34533.1	6q22.33	2011-12-13			ENSG00000184530	ENSG00000184530			20960	protein-coding gene	gene with protein product							Standard	NM_001010905		Approved		uc003qbh.4	Q6P5S2	OTTHUMG00000015530	ENST00000329722.7:c.820A>G	6.37:g.127911377A>G	ENSP00000328069:p.Thr274Ala						p.T274A	NM_001010905	NP_001010905	Q6P5S2	CF058_HUMAN		GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)	5	832	+			274					B4E1I0|Q5VUP2	Missense_Mutation	SNP	ENST00000329722.7	37	c.820A>G	CCDS34533.1	.	.	.	.	.	.	.	.	.	.	A	8.075	0.771127	0.16051	.	.	ENSG00000184530	ENST00000329722	T	0.41758	0.99	5.19	2.08	0.27032	.	0.820542	0.10803	N	0.632482	T	0.09730	0.0239	N	0.22421	0.69	0.09310	N	1	B	0.19331	0.035	B	0.20955	0.032	T	0.35126	-0.9801	10	0.20519	T	0.43	-2.603	5.7873	0.18340	0.4276:0.0:0.5724:0.0	.	274	Q6P5S2	CF058_HUMAN	A	274	ENSP00000328069:T274A	ENSP00000328069:T274A	T	+	1	0	C6orf58	127953070	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.016000	0.13377	0.626000	0.30322	0.533000	0.62120	ACT		0.398	C6orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042152.1	NM_001010905		51	38	0	0	0	0	51	38				
RAET1G	353091	broad.mit.edu	37	6	150240749	150240749	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr6:150240749C>A	ENST00000367360.2	-	2	356	c.289G>T	c.(289-291)Gtg>Ttg	p.V97L	RP11-244K5.8_ENST00000606915.1_RNA|RAET1E-AS1_ENST00000446954.2_RNA|RAET1E-AS1_ENST00000605899.1_RNA|RAET1G_ENST00000479265.1_Missense_Mutation_p.V97L	NM_001001788.2	NP_001001788.2			retinoic acid early transcript 1G											NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		ATGTCCACCACCTCTCTCAGT	0.507																																						uc010kii.1		NA																	0					0						c.(289-291)GTG>TTG		retinoic acid early transcript 1G precursor							207.0	204.0	205.0					6																	150240749		2203	4297	6500	SO:0001583	missense	353091				antigen processing and presentation|immune response	integral to membrane|MHC class I protein complex	protein binding	g.chr6:150240749C>A	AY172579	CCDS43514.1	6q24.1-25.1	2009-04-29	2004-11-22		ENSG00000203722	ENSG00000203722			16795	protein-coding gene	gene with protein product		609244	"""retinoic acid early transcript 1G pseudogene"""			11827464, 15240696	Standard	NM_001001788		Approved	ULBP5	uc010kii.1	Q6H3X3	OTTHUMG00000015802	ENST00000367360.2:c.289G>T	6.37:g.150240749C>A	ENSP00000356329:p.Val97Leu					RAET1G_uc003qnm.2_RNA	p.V97L	NM_001001788	NP_001001788	Q6H3X3	RET1G_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)	2	357	-		Ovarian(120;0.0907)	97			MHC class I alpha-1 like.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000367360.2	37	c.289G>T	CCDS43514.1	.	.	.	.	.	.	.	.	.	.	C	8.110	0.778546	0.16120	.	.	ENSG00000203722	ENST00000367360;ENST00000479265	T;T	0.00695	5.83;5.83	2.4	-1.16	0.09678	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.00241	0.0007	N	0.20986	0.625	0.09310	N	1	B	0.19583	0.037	B	0.29716	0.106	T	0.29366	-1.0014	9	0.30078	T	0.28	.	3.4017	0.07325	0.0:0.4005:0.309:0.2906	.	97	Q6H3X3	RET1G_HUMAN	L	97	ENSP00000356329:V97L;ENSP00000417503:V97L	ENSP00000356329:V97L	V	-	1	0	RAET1G	150282442	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.946000	0.01536	-0.332000	0.08489	0.505000	0.49811	GTG		0.507	RAET1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042668.2			45	129	1	0	3.05e-18	3.91e-18	45	129				
SYNE1	23345	broad.mit.edu	37	6	152542128	152542128	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr6:152542128A>G	ENST00000367255.5	-	119	22311	c.21710T>C	c.(21709-21711)cTa>cCa	p.L7237P	SYNE1_ENST00000423061.1_Missense_Mutation_p.L7166P|SYNE1_ENST00000341594.5_Missense_Mutation_p.L6849P|SYNE1_ENST00000448038.1_Missense_Mutation_p.L7166P|SYNE1_ENST00000356820.4_Missense_Mutation_p.L1761P|SYNE1_ENST00000265368.4_Missense_Mutation_p.L7237P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7237					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AAGCTGAAGTAGGGCCTTGCT	0.478										HNSCC(10;0.0054)																												uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(21709-21711)CTA>CCA		spectrin repeat containing, nuclear envelope 1							153.0	135.0	141.0					6																	152542128		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152542128A>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.21710T>C	6.37:g.152542128A>G	ENSP00000356224:p.Leu7237Pro	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Missense_Mutation_p.L1761P|SYNE1_uc003qos.3_Missense_Mutation_p.L1761P|SYNE1_uc003qot.3_Missense_Mutation_p.L7166P|SYNE1_uc003qou.3_Missense_Mutation_p.L7237P|SYNE1_uc003qor.3_Missense_Mutation_p.L137P	p.L7237P	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	119	22312	-		Ovarian(120;0.0955)	7237			HAT 10.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.21710T>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	A	24.1	4.490610	0.84962	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	T;T;T;T;T;T;T	0.59224	0.37;0.39;0.28;0.38;0.53;2.4;1.47	5.53	5.53	0.82687	.	0.000000	0.45126	D	0.000397	T	0.70150	0.3191	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;0.999	T	0.74572	-0.3621	10	0.72032	D	0.01	.	15.9435	0.79776	1.0:0.0:0.0:0.0	.	7237;7237;7166;7166	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9	SYNE1_HUMAN;.;.;.	P	7237;7166;7237;7166;6849;1761;159	ENSP00000356224:L7237P;ENSP00000396024:L7166P;ENSP00000265368:L7237P;ENSP00000390975:L7166P;ENSP00000341887:L6849P;ENSP00000349276:L1761P;ENSP00000356220:L159P	ENSP00000265368:L7237P	L	-	2	0	SYNE1	152583821	1.000000	0.71417	0.930000	0.37139	0.968000	0.65278	9.279000	0.95777	2.222000	0.72286	0.477000	0.44152	CTA		0.478	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		24	40	0	0	0	0	24	40				
ISPD	729920	broad.mit.edu	37	7	16415830	16415830	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr7:16415830C>T	ENST00000407010.2	-	3	570	c.571G>A	c.(571-573)Gtc>Atc	p.V191I	ISPD_ENST00000399310.3_Intron	NM_001101426.3	NP_001094896.1	A4D126	ISPD_HUMAN	isoprenoid synthase domain containing	191					axon guidance (GO:0007411)|isoprenoid biosynthetic process (GO:0008299)|protein O-linked mannosylation (GO:0035269)		nucleotidyltransferase activity (GO:0016779)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						GATGGACTGACGACAGTAGAT	0.418										Multiple Myeloma(15;0.18)																												uc010ktx.2		NA																	0				ovary(1)	1						c.(571-573)GTC>ATC		notch1-induced protein isoform a							76.0	75.0	75.0					7																	16415830		1929	4141	6070	SO:0001583	missense	729920				isoprenoid biosynthetic process		nucleotidyltransferase activity	g.chr7:16415830C>T	AK124805		7p21.2	2010-03-19			ENSG00000214960	ENSG00000214960			37276	protein-coding gene	gene with protein product	"""notch1-induced protein"", ""4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis)"""	614631				11181995	Standard	NM_001101417		Approved	hCG_1745121, IspD, Nip	uc010ktx.2	A4D126	OTTHUMG00000152447	ENST00000407010.2:c.571G>A	7.37:g.16415830C>T	ENSP00000385478:p.Val191Ile	Multiple Myeloma(15;0.18)				ISPD_uc010kty.2_Intron	p.V191I	NM_001101426	NP_001094896	A4D126	ISPD_HUMAN			3	571	-			191					A8MU35|H9KVB2	Missense_Mutation	SNP	ENST00000407010.2	37	c.571G>A		.	.	.	.	.	.	.	.	.	.	T	2.690	-0.273463	0.05679	.	.	ENSG00000214960	ENST00000407010	D	0.85629	-2.01	5.38	2.9	0.33743	4-diphosphocytidyl-2C-methyl-D-erythritol synthase (1);	0.065942	0.64402	N	0.000020	T	0.65207	0.2669	N	0.11064	0.09	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.50709	-0.8796	10	0.07030	T	0.85	-11.1098	7.2521	0.26156	0.0:0.1312:0.1221:0.7466	.	191	A4D126	ISPD_HUMAN	I	191	ENSP00000385478:V191I	ENSP00000385478:V191I	V	-	1	0	ISPD	16382355	1.000000	0.71417	0.997000	0.53966	0.572000	0.35998	2.298000	0.43602	0.067000	0.16545	-0.269000	0.10298	GTC		0.418	ISPD-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000326252.4	NM_001101426		13	24	0	0	0	0	13	24				
CCDC129	223075	broad.mit.edu	37	7	31682803	31682803	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr7:31682803G>C	ENST00000407970.3	+	11	1857	c.1819G>C	c.(1819-1821)Gac>Cac	p.D607H	CCDC129_ENST00000409210.1_Missense_Mutation_p.D515H|CCDC129_ENST00000451887.2_Missense_Mutation_p.D633H|CCDC129_ENST00000319386.3_Missense_Mutation_p.D459H	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	607										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TCATACTCAAGACAAGTTCCT	0.493																																						uc003tcj.1		NA																	0					0						c.(1819-1821)GAC>CAC		coiled-coil domain containing 129							123.0	121.0	122.0					7																	31682803		2203	4300	6503	SO:0001583	missense	223075							g.chr7:31682803G>C	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1819G>C	7.37:g.31682803G>C	ENSP00000384416:p.Asp607His					CCDC129_uc011kad.1_Missense_Mutation_p.D617H|CCDC129_uc003tci.1_Missense_Mutation_p.D458H|CCDC129_uc011kae.1_Missense_Mutation_p.D633H|CCDC129_uc003tck.1_Missense_Mutation_p.D515H	p.D607H	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN			11	2812	+			607					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.1819G>C	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	G	15.63	2.889440	0.52014	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.29655	1.56;1.87;1.87;1.61	5.92	5.04	0.67666	.	0.313934	0.27464	N	0.019252	T	0.51753	0.1693	M	0.66939	2.045	0.09310	N	1	D;D;D;D	0.89917	1.0;0.997;0.997;0.997	D;D;D;D	0.97110	1.0;0.925;0.925;0.925	T	0.47235	-0.9133	10	0.72032	D	0.01	-6.8416	10.9997	0.47598	0.0852:0.0:0.9148:0.0	.	633;617;607;459	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	H	459;607;633;617;515	ENSP00000313062:D459H;ENSP00000384416:D607H;ENSP00000395835:D633H;ENSP00000387214:D515H	ENSP00000313062:D459H	D	+	1	0	CCDC129	31649328	0.044000	0.20184	0.003000	0.11579	0.016000	0.09150	2.858000	0.48356	1.518000	0.48934	0.655000	0.94253	GAC		0.493	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		42	95	0	0	0	0	42	95				
ZNF117	51351	broad.mit.edu	37	7	64438979	64438979	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr7:64438979T>A	ENST00000282869.6	-	4	2254	c.970A>T	c.(970-972)Aaa>Taa	p.K324*		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	324					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TGAATTTTTTTATGGTCAGTA	0.353																																						uc003ttr.2		NA																	0				skin(1)	1						c.(970-972)AAA>TAA		zinc finger protein 117							35.0	38.0	37.0					7																	64438979		2108	4260	6368	SO:0001587	stop_gained	51351					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:64438979T>A	M27879	CCDS43593.1	7q11.2	2013-01-08	2006-06-12		ENSG00000152926	ENSG00000152926		"""Zinc fingers, C2H2-type"""	12897	protein-coding gene	gene with protein product		194624	"""zinc finger protein 117 (HPF9)"""			1427907	Standard	NM_015852		Approved	HPF9, H-plk	uc003ttr.2	Q03924	OTTHUMG00000156631	ENST00000282869.6:c.970A>T	7.37:g.64438979T>A	ENSP00000282869:p.Lys324*						p.K324*	NM_015852	NP_056936	Q03924	ZN117_HUMAN			4	2255	-		Lung NSC(55;0.0295)|all_lung(88;0.0691)	324			C2H2-type 8.		Q02313|Q7Z7Q7	Nonsense_Mutation	SNP	ENST00000282869.6	37	c.970A>T	CCDS43593.1	.	.	.	.	.	.	.	.	.	.	.	44	10.969765	0.99496	.	.	ENSG00000152926	ENST00000398695;ENST00000282869	.	.	.	1.27	-2.54	0.06307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.1309	0.20204	0.0:0.0:0.6537:0.3463	.	.	.	.	X	324	.	ENSP00000282869:K324X	K	-	1	0	ZNF117	64076414	0.000000	0.05858	0.001000	0.08648	0.032000	0.12392	0.108000	0.15396	-0.367000	0.08052	0.260000	0.18958	AAA		0.353	ZNF117-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344863.3	NM_024498		23	39	0	0	0	0	23	39				
AUTS2	26053	broad.mit.edu	37	7	69064922	69064922	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr7:69064922A>C	ENST00000342771.4	+	1	604	c.283A>C	c.(283-285)Agc>Cgc	p.S95R	AUTS2_ENST00000406775.2_Missense_Mutation_p.S95R|RP5-942I16.1_ENST00000436600.2_lincRNA|AUTS2_ENST00000403018.2_Missense_Mutation_p.S95R	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	95										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		TGCCATGACCAGCTTTGTCAC	0.657																																						uc003tvw.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(283-285)AGC>CGC		autism susceptibility candidate 2 isoform 1							25.0	27.0	26.0					7																	69064922		2149	4165	6314	SO:0001583	missense	26053							g.chr7:69064922A>C	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.283A>C	7.37:g.69064922A>C	ENSP00000344087:p.Ser95Arg					AUTS2_uc003tvv.3_Missense_Mutation_p.S95R|AUTS2_uc003tvx.3_Missense_Mutation_p.S95R	p.S95R	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	1	1026	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	95					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	c.283A>C	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	A	15.87	2.960490	0.53400	.	.	ENSG00000158321	ENST00000406775;ENST00000342771;ENST00000403018	T;T	0.37235	1.22;1.21	3.56	2.42	0.29668	.	0.125899	0.34435	U	0.003965	T	0.28499	0.0705	L	0.43923	1.385	0.22591	N	0.998954	D;D;P	0.53745	0.962;0.962;0.904	B;B;P	0.45829	0.423;0.423;0.494	T	0.10132	-1.0643	9	.	.	.	.	4.7046	0.12844	0.7272:0.0:0.1016:0.1712	.	95;95;95	Q8WXX7-2;Q8WXX7;Q6PJU5	.;AUTS2_HUMAN;.	R	95	ENSP00000385263:S95R;ENSP00000344087:S95R	.	S	+	1	0	AUTS2	68702858	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.354000	0.44098	1.568000	0.49683	0.460000	0.39030	AGC		0.657	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			8	25	0	0	0	0	8	25				
CROT	54677	broad.mit.edu	37	7	87022283	87022283	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr7:87022283G>T	ENST00000331536.3	+	17	1803	c.1618G>T	c.(1618-1620)Gtt>Ttt	p.V540F	CROT_ENST00000419147.2_Missense_Mutation_p.V568F|CROT_ENST00000442291.1_Missense_Mutation_p.V540F	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	540					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TGGAAATTTTGTTCTCTCAAC	0.383																																						uc003uit.2		NA																	0				ovary(2)|lung(1)	3						c.(1618-1620)GTT>TTT		peroxisomal carnitine O-octanoyltransferase	L-Carnitine(DB00583)						207.0	200.0	202.0					7																	87022283		2203	4300	6503	SO:0001583	missense	54677				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	g.chr7:87022283G>T		CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.1618G>T	7.37:g.87022283G>T	ENSP00000331981:p.Val540Phe					CROT_uc003uiu.2_Missense_Mutation_p.V568F	p.V540F	NM_021151	NP_066974	Q9UKG9	OCTC_HUMAN			17	1863	+	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		540					A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	ENST00000331536.3	37	c.1618G>T	CCDS5604.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514545	0.85389	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	T;T;T	0.45276	0.9;0.9;0.9	6.17	4.38	0.52667	.	0.056359	0.64402	D	0.000001	T	0.61800	0.2376	M	0.83118	2.625	0.80722	D	1	D;D	0.71674	0.992;0.998	D;D	0.75020	0.968;0.985	T	0.64011	-0.6507	10	0.09843	T	0.71	-14.343	12.994	0.58635	0.1298:0.0:0.8702:0.0	.	568;540	E7EQF2;Q9UKG9	.;OCTC_HUMAN	F	568;540;540	ENSP00000413575:V568F;ENSP00000331981:V540F;ENSP00000411983:V540F	ENSP00000331981:V540F	V	+	1	0	CROT	86860219	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.466000	0.45084	0.943000	0.37553	0.655000	0.94253	GTT		0.383	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151		44	62	1	0	1.42e-22	1.82e-22	44	62				
CUX1	1523	broad.mit.edu	37	7	101845472	101845472	+	Silent	SNP	C	C	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr7:101845472C>A	ENST00000292535.7	+	18	2933	c.2895C>A	c.(2893-2895)atC>atA	p.I965I	CUX1_ENST00000292538.4_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000546411.2_Silent_p.I863I|CUX1_ENST00000550008.2_Silent_p.I909I|CUX1_ENST00000360264.3_Silent_p.I976I|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000556210.1_Silent_p.I807I|CUX1_ENST00000549414.2_Silent_p.I943I|CUX1_ENST00000393824.3_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	965					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GCCAGAGAATCTTCGGGGAGA	0.562																																						uc003uyx.3		NA																	0				ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(2893-2895)ATC>ATA		cut-like homeobox 1 isoform a							71.0	77.0	75.0					7																	101845472		2203	4300	6503	SO:0001819	synonymous_variant	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101845472C>A	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.2895C>A	7.37:g.101845472C>A						CUX1_uc003uys.3_Silent_p.I976I|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron	p.I965I	NM_181552	NP_853530	P39880	CUX1_HUMAN			18	2933	+			965			CUT 2.		B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Silent	SNP	ENST00000292535.7	37	c.2895C>A	CCDS5721.1																																																																																				0.562	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		10	94	1	0	0.000442599	0.000490899	10	94				
RELN	5649	broad.mit.edu	37	7	103123326	103123326	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr7:103123326A>G	ENST00000428762.1	-	63	10433	c.10274T>C	c.(10273-10275)gTc>gCc	p.V3425A	RELN_ENST00000343529.5_Missense_Mutation_p.V3425A|RN7SKP86_ENST00000410454.1_RNA|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Missense_Mutation_p.V3425A|RELN_ENST00000473945.1_5'UTR	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3425					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCACAGGACGACCTCCACATG	0.473																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(10273-10275)GTC>GCC		reelin isoform a							175.0	128.0	144.0					7																	103123326		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103123326A>G		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.10274T>C	7.37:g.103123326A>G	ENSP00000392423:p.Val3425Ala					RELN_uc010liz.2_Missense_Mutation_p.V3425A	p.V3425A	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	63	10434	-			3425					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.10274T>C	CCDS47680.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	29.1|29.1	4.974132|4.974132	0.92919|0.92919	.|.	.|.	ENSG00000189056|ENSG00000189056	ENST00000429186|ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	.|D;D;D	.|0.82711	.|-1.64;-1.64;-1.64	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.85039|0.85039	0.5606|0.5606	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|P;D	.|0.56968	.|0.542;0.978	.|P;P	.|0.60012	.|0.493;0.867	D|D	0.87026|0.87026	0.2132|0.2132	5|10	.|0.87932	.|D	.|0	.|.	16.2009|16.2009	0.82078|0.82078	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|3425;3425	.|P78509-2;P78509	.|.;RELN_HUMAN	P|A	24|3425;3425;3425;942;3425	.|ENSP00000392423:V3425A;ENSP00000345694:V3425A;ENSP00000388446:V3425A	.|ENSP00000345694:V3425A	S|V	-|-	1|2	0|0	RELN|RELN	102910562|102910562	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	8.962000|8.962000	0.93254|0.93254	2.235000|2.235000	0.73313|0.73313	0.533000|0.533000	0.62120|0.62120	TCG|GTC		0.473	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		19	62	0	0	0	0	19	62				
RELN	5649	broad.mit.edu	37	7	103163863	103163863	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr7:103163863C>T	ENST00000428762.1	-	47	7624	c.7465G>A	c.(7465-7467)Ggg>Agg	p.G2489R	RELN_ENST00000343529.5_Missense_Mutation_p.G2489R|RELN_ENST00000424685.2_Missense_Mutation_p.G2489R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2489	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATGCATCTCCCATGGCCACTG	0.458																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(7465-7467)GGG>AGG		reelin isoform a							172.0	160.0	164.0					7																	103163863		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103163863C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.7465G>A	7.37:g.103163863C>T	ENSP00000392423:p.Gly2489Arg					RELN_uc010liz.2_Missense_Mutation_p.G2489R	p.G2489R	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	47	7625	-			2489			EGF-like 6.		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.7465G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	34	5.393814	0.96009	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.55588	0.51;0.51;0.51	5.82	5.82	0.92795	Neuraminidase (1);	0.000000	0.85682	D	0.000000	T	0.82268	0.5000	H	0.95539	3.685	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86798	0.1990	10	0.87932	D	0	.	20.1092	0.97906	0.0:1.0:0.0:0.0	.	2489;2489	P78509-2;P78509	.;RELN_HUMAN	R	2489;2489;2489;6;2489	ENSP00000392423:G2489R;ENSP00000345694:G2489R;ENSP00000388446:G2489R	ENSP00000345694:G2489R	G	-	1	0	RELN	102951099	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.487000	0.81328	2.745000	0.94114	0.655000	0.94253	GGG		0.458	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		42	63	0	0	0	0	42	63				
CPA5	93979	broad.mit.edu	37	7	130008281	130008281	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr7:130008281C>G	ENST00000485477.1	+	12	2283	c.1154C>G	c.(1153-1155)gCc>gGc	p.A385G	CPA5_ENST00000393213.3_Missense_Mutation_p.A385G|CPA5_ENST00000431780.2_Missense_Mutation_p.P357A|CPA5_ENST00000474905.1_Missense_Mutation_p.A385G|CPA5_ENST00000355388.3_Missense_Mutation_p.A385G|CPA5_ENST00000466363.2_Missense_Mutation_p.A385G|CPA5_ENST00000461828.1_Missense_Mutation_p.A385G			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	385						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					GTCGACTGGGCCTATGACAGT	0.562																																						uc010lmd.1		NA																	0				ovary(2)	2						c.(1153-1155)GCC>GGC		carboxypeptidase A5 isoform 1							143.0	127.0	132.0					7																	130008281		2203	4300	6503	SO:0001583	missense	93979				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr7:130008281C>G	AF384667	CCDS5819.1, CCDS47713.1	7q32	2008-07-18			ENSG00000158525	ENSG00000158525			15722	protein-coding gene	gene with protein product		609561				11836249	Standard	NM_080385		Approved		uc003vps.2	Q8WXQ8	OTTHUMG00000157824	ENST00000485477.1:c.1154C>G	7.37:g.130008281C>G	ENSP00000420237:p.Ala385Gly					CPA5_uc003vps.2_Missense_Mutation_p.A385G|CPA5_uc003vpt.2_Missense_Mutation_p.P357A|CPA5_uc010lme.1_Missense_Mutation_p.A385G|CPA5_uc003vpu.1_Missense_Mutation_p.A385G|uc003vpv.1_RNA	p.A385G	NM_001127441	NP_001120913	Q8WXQ8	CBPA5_HUMAN			14	1774	+	Melanoma(18;0.0435)		385					G3V0G8|Q6ZNI6|Q86SE2|Q86XM3|Q8NA08	Missense_Mutation	SNP	ENST00000485477.1	37	c.1154C>G	CCDS5819.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.022565|4.022565	0.75275|0.75275	.|.	.|.	ENSG00000158525|ENSG00000158525	ENST00000355388;ENST00000461828;ENST00000466363;ENST00000485477;ENST00000474905;ENST00000393213|ENST00000431780;ENST00000479492	T;T;T;T;T;T|T	0.12984|0.10668	2.63;2.63;2.63;2.63;2.63;2.63|2.85	5.81|5.81	5.81|5.81	0.92471|0.92471	Peptidase M14, carboxypeptidase A (2);|.	0.000000|.	0.64402|.	D|.	0.000006|.	T|T	0.28632|0.28632	0.0709|0.0709	M|M	0.90019|0.90019	3.08|3.08	0.54753|0.54753	D|D	0.999985|0.999985	P|P	0.40578|0.42692	0.722|0.787	P|B	0.44623|0.44163	0.455|0.443	T|T	0.10941|0.10941	-1.0608|-1.0608	9|8	.|.	.|.	.|.	.|.	19.0644|19.0644	0.93104|0.93104	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	385|357	Q8WXQ8|G3V0G8	CBPA5_HUMAN|.	G|A	385|357;34	ENSP00000347549:A385G;ENSP00000418183:A385G;ENSP00000419025:A385G;ENSP00000420237:A385G;ENSP00000417314:A385G;ENSP00000376907:A385G|ENSP00000393045:P357A	.|.	A|P	+|+	2|1	0|0	CPA5|CPA5	129795517|129795517	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.086000|0.086000	0.17979|0.17979	2.140000|2.140000	0.42159|0.42159	2.756000|2.756000	0.94617|0.94617	0.655000|0.655000	0.94253|0.94253	GCC|CCT		0.562	CPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349712.1	NM_001127441		4	116	0	0	0	0	4	116				
WDR91	29062	broad.mit.edu	37	7	134878366	134878366	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr7:134878366T>G	ENST00000354475.4	-	10	1485	c.1454A>C	c.(1453-1455)aAt>aCt	p.N485T	WDR91_ENST00000423565.1_Missense_Mutation_p.N450T|WDR91_ENST00000485942.1_5'Flank|WDR91_ENST00000344400.5_Missense_Mutation_p.N485T	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	485										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						TTCACAGAGATTCTTCTTGGC	0.572																																						uc003vsp.2		NA																	0				breast(2)|ovary(1)|skin(1)	4						c.(1453-1455)AAT>ACT		WD repeat domain 91							118.0	93.0	102.0					7																	134878366		2203	4300	6503	SO:0001583	missense	29062							g.chr7:134878366T>G	AF161534	CCDS34758.1	7q33	2013-01-09			ENSG00000105875	ENSG00000105875		"""WD repeat domain containing"""	24997	protein-coding gene	gene with protein product						11042152, 11230166	Standard	NM_014149		Approved	HSPC049	uc003vsp.2	A4D1P6	OTTHUMG00000155414	ENST00000354475.4:c.1454A>C	7.37:g.134878366T>G	ENSP00000346466:p.Asn485Thr					WDR91_uc010lmq.2_Missense_Mutation_p.N74T|WDR91_uc010lmr.2_RNA	p.N485T	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN			10	1516	-			485			WD 2.		A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6	Missense_Mutation	SNP	ENST00000354475.4	37	c.1454A>C	CCDS34758.1	.	.	.	.	.	.	.	.	.	.	T	10.60	1.394509	0.25205	.	.	ENSG00000105875	ENST00000344400;ENST00000354475;ENST00000423565	T;T;T	0.28069	1.63;5.06;5.06	5.66	5.66	0.87406	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.085277	0.85682	D	0.000000	T	0.42245	0.1194	L	0.48642	1.525	0.53005	D	0.999966	D	0.76494	0.999	P	0.62813	0.907	T	0.20638	-1.0269	10	0.06625	T	0.88	-10.993	15.8982	0.79350	0.0:0.0:0.0:1.0	.	485	A4D1P6	WDR91_HUMAN	T	485;485;450	ENSP00000340877:N485T;ENSP00000346466:N485T;ENSP00000392555:N450T	ENSP00000340877:N485T	N	-	2	0	WDR91	134528906	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	5.937000	0.70162	2.140000	0.66376	0.533000	0.62120	AAT		0.572	WDR91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340019.1	NM_014149		9	24	0	0	0	0	9	24				
GSTK1	373156	broad.mit.edu	37	7	142961250	142961250	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr7:142961250G>A	ENST00000358406.5	+	2	215	c.144G>A	c.(142-144)atG>atA	p.M48I	GSTK1_ENST00000479303.1_Missense_Mutation_p.M48I|GSTK1_ENST00000409500.3_Missense_Mutation_p.M48I|GSTK1_ENST00000494735.1_3'UTR|AC073342.12_ENST00000427392.1_RNA|GSTK1_ENST00000443571.2_Missense_Mutation_p.M48I	NM_015917.2	NP_057001.1	Q9Y2Q3	GSTK1_HUMAN	glutathione S-transferase kappa 1	48					epithelial cell differentiation (GO:0030855)|glutathione metabolic process (GO:0006749)|oxidation-reduction process (GO:0055114)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|peroxisome (GO:0005777)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|protein disulfide oxidoreductase activity (GO:0015035)|receptor binding (GO:0005102)			lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	CAGGGATCATGAAAGACAGTG	0.567																																						uc003wci.2		NA																	0					0						c.(142-144)ATG>ATA		glutathione S-transferase kappa 1 isoform a	Glutathione(DB00143)						53.0	46.0	48.0					7																	142961250		2203	4300	6503	SO:0001583	missense	373156					outer membrane-bounded periplasmic space|peroxisome	glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity	g.chr7:142961250G>A		CCDS5877.1, CCDS47730.1, CCDS47731.1, CCDS47732.1	7q34	2012-06-21			ENSG00000197448	ENSG00000197448	2.5.1.18	"""Glutathione S-transferases / Mitochondrial (kappa)"""	16906	protein-coding gene	gene with protein product		602321				12720545, 14742434	Standard	NM_015917		Approved	GST13	uc003wcj.3	Q9Y2Q3	OTTHUMG00000152637	ENST00000358406.5:c.144G>A	7.37:g.142961250G>A	ENSP00000351181:p.Met48Ile					GSTK1_uc011ksy.1_Missense_Mutation_p.M48I|GSTK1_uc003wcj.2_Missense_Mutation_p.M48I|GSTK1_uc011ksz.1_Missense_Mutation_p.M48I	p.M48I	NM_015917	NP_057001	Q9Y2Q3	GSTK1_HUMAN			2	229	+	Melanoma(164;0.059)		48					B4DIH1|B4DSY2|Q6P4H0|Q7Z520|Q9P1S4	Missense_Mutation	SNP	ENST00000358406.5	37	c.144G>A	CCDS5877.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.136807	0.56936	.	.	ENSG00000197448	ENST00000436038;ENST00000409500;ENST00000443571;ENST00000358406;ENST00000479303	.	.	.	6.14	4.33	0.51752	DSBA-like thioredoxin domain (1);Thioredoxin-like fold (1);	0.110994	0.85682	D	0.000000	T	0.52451	0.1735	L	0.53729	1.69	0.51233	D	0.999915	B;B;B;B	0.31241	0.013;0.009;0.167;0.315	B;B;B;B	0.34301	0.018;0.009;0.053;0.179	T	0.51772	-0.8663	9	0.33940	T	0.23	-22.0507	11.5101	0.50488	0.1479:0.0:0.8521:0.0	.	48;48;48;48	Q9Y2Q3-3;Q9Y2Q3-4;Q9Y2Q3-2;Q9Y2Q3	.;.;.;GSTK1_HUMAN	I	38;48;48;48;48	.	ENSP00000351181:M48I	M	+	3	0	GSTK1	142671372	1.000000	0.71417	1.000000	0.80357	0.686000	0.39977	1.867000	0.39499	1.631000	0.50456	0.650000	0.86243	ATG		0.567	GSTK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327091.1	NM_015917		16	22	0	0	0	0	16	22				
CSMD1	64478	broad.mit.edu	37	8	3059180	3059180	+	Silent	SNP	G	G	A	rs370545458		TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr8:3059180G>A	ENST00000520002.1	-	33	5610	c.5055C>T	c.(5053-5055)acC>acT	p.T1685T	CSMD1_ENST00000537824.1_Silent_p.T1684T|CSMD1_ENST00000602557.1_Silent_p.T1685T|CSMD1_ENST00000400186.3_Silent_p.T1685T|CSMD1_ENST00000602723.1_Silent_p.T1685T|CSMD1_ENST00000542608.1_Silent_p.T1684T|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000539096.1_Silent_p.T1684T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1685	CUB 10. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCTGTGCATGGGTTCCATCAA	0.438													G|||	1	0.000199681	0.0	0.0014	5008	,	,		14106	0.0		0.0	False		,,,				2504	0.0					uc011kwk.1		NA																	0				breast(20)|large_intestine(5)	25						c.(5053-5055)ACC>ACT		CUB and Sushi multiple domains 1 precursor		G		4,3764		0,4,1880	60.0	66.0	64.0		5052	-10.9	0.0	8		64	0,8240		0,0,4120	no	coding-synonymous	CSMD1	NM_033225.5		0,4,6000	AA,AG,GG		0.0,0.1062,0.0333		1684/3565	3059180	4,12004	1884	4120	6004	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:3059180G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.5055C>T	8.37:g.3059180G>A						CSMD1_uc011kwj.1_Silent_p.T1077T|CSMD1_uc003wqe.2_Silent_p.T841T	p.T1685T	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	32	5445	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1685			Extracellular (Potential).|CUB 10.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.5055C>T		.	.	.	.	.	.	.	.	.	.	G	0.198	-1.046896	0.01997	0.001062	0.0	ENSG00000183117	ENST00000335551	.	.	.	5.97	-10.9	0.00192	.	.	.	.	.	T	0.32285	0.0824	.	.	.	0.37712	D	0.924606	.	.	.	.	.	.	T	0.35425	-0.9789	4	.	.	.	.	2.9231	0.05776	0.1801:0.1103:0.3291:0.3805	.	.	.	.	S	1165	.	.	P	-	1	0	CSMD1	3046587	0.093000	0.21703	0.000000	0.03702	0.035000	0.12851	-0.751000	0.04803	-2.261000	0.00691	-0.274000	0.10170	CCA		0.438	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		7	11	0	0	0	0	7	11				
CLDN23	137075	broad.mit.edu	37	8	8560453	8560453	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr8:8560453C>T	ENST00000519106.1	+	1	1006	c.545C>T	c.(544-546)gCg>gTg	p.A182V		NM_194284.2	NP_919260.2	Q96B33	CLD23_HUMAN	claudin 23	182					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)	2		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		CTCAGCTTCGCGCCCTGGTGC	0.726																																						uc003wsi.2		NA																	0					0						c.(544-546)GCG>GTG		claudin 23							5.0	7.0	6.0					8																	8560453		2038	4098	6136	SO:0001583	missense	137075				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr8:8560453C>T	AK123547	CCDS55195.1	8p23.1	2006-04-12				ENSG00000253958		"""Claudins"""	17591	protein-coding gene	gene with protein product		609203				12736707	Standard	NM_194284		Approved	CLDNL	uc003wsi.3	Q96B33		ENST00000519106.1:c.545C>T	8.37:g.8560453C>T	ENSP00000428780:p.Ala182Val						p.A182V	NM_194284	NP_919260	Q96B33	CLD23_HUMAN		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)	1	788	+		Hepatocellular(245;0.217)	182			Cytoplasmic (Potential).		Q08AJ3	Missense_Mutation	SNP	ENST00000519106.1	37	c.545C>T	CCDS55195.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132375	0.56828	.	.	ENSG00000253958	ENST00000519106	T	0.61158	0.13	4.23	3.35	0.38373	.	.	.	.	.	T	0.35595	0.0937	N	0.17082	0.46	0.28937	N	0.891221	B	0.14805	0.011	B	0.09377	0.004	T	0.18524	-1.0334	9	0.30854	T	0.27	.	3.9248	0.09259	0.2051:0.5947:0.0:0.2002	.	182	Q96B33	CLD23_HUMAN	V	182	ENSP00000428780:A182V	ENSP00000428780:A182V	A	+	2	0	CLDN23	8597863	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	1.536000	0.36072	1.145000	0.42336	0.407000	0.27541	GCG		0.726	CLDN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374721.1	NM_194284		13	15	0	0	0	0	13	15				
NEFM	4741	broad.mit.edu	37	8	24772151	24772151	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr8:24772151A>G	ENST00000221166.5	+	1	1627	c.845A>G	c.(844-846)gAc>gGc	p.D282G	NEFM_ENST00000437366.2_Missense_Mutation_p.D282G|RP11-624C23.1_ENST00000519689.1_RNA|NEFM_ENST00000518131.1_Missense_Mutation_p.D282G|NEFM_ENST00000521540.1_3'UTR|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000433454.2_5'Flank			P07197	NFM_HUMAN	neurofilament, medium polypeptide	282	Coil 2A.|Rod.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AGCCACTCAGACCAGAATATG	0.587																																						uc003xed.3		NA																	0				breast(1)	1						c.(844-846)GAC>GGC		neurofilament, medium polypeptide 150kDa isoform							122.0	101.0	108.0					8																	24772151		2203	4300	6503	SO:0001583	missense	4741					neurofilament	protein binding|structural constituent of cytoskeleton	g.chr8:24772151A>G	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.845A>G	8.37:g.24772151A>G	ENSP00000221166:p.Asp282Gly					NEFM_uc011lac.1_Missense_Mutation_p.D282G|NEFM_uc010lue.2_5'Flank|uc010luc.1_5'UTR	p.D282G	NM_005382	NP_005373	P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	1	878	+		Prostate(55;0.157)	282			Rod.|Coil 2A.		B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	ENST00000221166.5	37	c.845A>G	CCDS6046.1	.	.	.	.	.	.	.	.	.	.	A	16.07	3.018327	0.54576	.	.	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366	D;D;D	0.89123	-2.47;-2.47;-2.47	4.69	4.69	0.59074	Filament (1);	0.000000	0.46442	D	0.000291	T	0.76492	0.3995	N	0.10707	0.03	0.40970	D	0.984698	B;B	0.20988	0.05;0.007	B;B	0.24701	0.055;0.018	T	0.72557	-0.4257	10	0.44086	T	0.13	.	7.4303	0.27124	0.8327:0.0:0.1673:0.0	.	282;282	E7EMV2;P07197	.;NFM_HUMAN	G	282	ENSP00000221166:D282G;ENSP00000427872:D282G;ENSP00000410137:D282G	ENSP00000221166:D282G	D	+	2	0	NEFM	24828056	0.996000	0.38824	0.997000	0.53966	0.924000	0.55760	1.648000	0.37271	1.873000	0.54277	0.383000	0.25322	GAC		0.587	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382		9	72	0	0	0	0	9	72				
SCARA5	286133	broad.mit.edu	37	8	27779108	27779108	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr8:27779108C>T	ENST00000354914.3	-	4	1381	c.896G>A	c.(895-897)cGg>cAg	p.R299Q	SCARA5_ENST00000524352.1_Missense_Mutation_p.R299Q|SCARA5_ENST00000301906.4_Missense_Mutation_p.R256Q|SCARA5_ENST00000380385.2_Intron|SCARA5_ENST00000518030.1_Missense_Mutation_p.R256Q	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	299					cellular iron ion homeostasis (GO:0006879)|cellular response to heat (GO:0034605)|endocytosis (GO:0006897)|iron ion transmembrane transport (GO:0034755)|protein homotrimerization (GO:0070207)|receptor-mediated endocytosis (GO:0006898)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)	ferritin receptor activity (GO:0070287)|scavenger receptor activity (GO:0005044)			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		GGAGATGTTCCGCAGTGCGAT	0.657																																						uc003xgj.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(895-897)CGG>CAG		scavenger receptor class A, member 5							86.0	65.0	72.0					8																	27779108		2203	4300	6503	SO:0001583	missense	286133				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity	g.chr8:27779108C>T	AK172746	CCDS6064.1	8p21.1	2014-07-08	2014-07-08		ENSG00000168079	ENSG00000168079			28701	protein-coding gene	gene with protein product		611306	"""scavenger receptor class A, member 5 (putative)"""			19154717	Standard	NM_173833		Approved	FLJ23907, MGC45780, NET33	uc003xgj.3	Q6ZMJ2	OTTHUMG00000132172	ENST00000354914.3:c.896G>A	8.37:g.27779108C>T	ENSP00000346990:p.Arg299Gln					SCARA5_uc010luz.2_Intron|SCARA5_uc003xgk.2_Missense_Mutation_p.R256Q|SCARA5_uc003xgl.2_Missense_Mutation_p.R299Q	p.R299Q	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)	4	1336	-		Ovarian(32;0.0218)	299			Extracellular (Potential).		Q6UXZ1|Q7Z4A1|Q8N4Z7	Missense_Mutation	SNP	ENST00000354914.3	37	c.896G>A	CCDS6064.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.536892	0.45176	.	.	ENSG00000168079	ENST00000354914;ENST00000517320;ENST00000524352;ENST00000518030;ENST00000301906	D;D;D;D	0.91011	-2.36;-2.77;-2.66;-2.66	4.22	3.34	0.38264	.	0.185407	0.45606	N	0.000347	D	0.92655	0.7666	M	0.64997	1.995	0.24421	N	0.994619	D;P;D	0.71674	0.998;0.516;0.957	D;B;B	0.75484	0.986;0.086;0.289	D	0.84639	0.0694	10	0.49607	T	0.09	.	6.8991	0.24273	0.0:0.7834:0.0:0.2166	.	299;256;299	Q6ZMJ2-2;Q6ZMJ2-3;Q6ZMJ2	.;.;SCAR5_HUMAN	Q	299;99;299;256;256	ENSP00000346990:R299Q;ENSP00000428663:R299Q;ENSP00000430713:R256Q;ENSP00000301906:R256Q	ENSP00000301906:R256Q	R	-	2	0	SCARA5	27835027	0.997000	0.39634	0.990000	0.47175	0.955000	0.61496	1.276000	0.33156	0.903000	0.36546	0.456000	0.33151	CGG		0.657	SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255223.2	NM_173833		10	37	0	0	0	0	10	37				
ZNF704	619279	broad.mit.edu	37	8	81553638	81553638	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr8:81553638C>G	ENST00000327835.3	-	9	1433	c.1202G>C	c.(1201-1203)tGc>tCc	p.C401S		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	401							metal ion binding (GO:0046872)			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			CTTCCAGCGGCAGGCGGTACA	0.627																																						uc003yby.1		NA																	0					0						c.(1201-1203)TGC>TCC		zinc finger protein 704							65.0	52.0	57.0					8																	81553638		2203	4300	6503	SO:0001583	missense	619279					intracellular	zinc ion binding	g.chr8:81553638C>G	AK131274	CCDS34913.1	8q21.13	2008-05-02			ENSG00000164684	ENSG00000164684			32291	protein-coding gene	gene with protein product							Standard	NM_001033723		Approved	FLJ16218, Gig1	uc003yby.2	Q6ZNC4	OTTHUMG00000164733	ENST00000327835.3:c.1202G>C	8.37:g.81553638C>G	ENSP00000331462:p.Cys401Ser						p.C401S	NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)		9	1434	-	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		401					B2RNE6|B9EGW6	Missense_Mutation	SNP	ENST00000327835.3	37	c.1202G>C	CCDS34913.1	.	.	.	.	.	.	.	.	.	.	C	34	5.367929	0.95900	.	.	ENSG00000164684	ENST00000327835	T	0.35789	1.29	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.66674	0.2813	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.69371	-0.5163	10	0.87932	D	0	-28.4211	20.2789	0.98501	0.0:1.0:0.0:0.0	.	401	Q6ZNC4	ZN704_HUMAN	S	401	ENSP00000331462:C401S	ENSP00000331462:C401S	C	-	2	0	ZNF704	81716193	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.788000	0.95919	0.650000	0.86243	TGC		0.627	ZNF704-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379964.2	NM_001033723		4	19	0	0	0	0	4	19				
MATN2	4147	broad.mit.edu	37	8	99015907	99015907	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr8:99015907T>A	ENST00000520016.1	+	7	1347	c.1223T>A	c.(1222-1224)cTg>cAg	p.L408Q	MATN2_ENST00000522025.2_Missense_Mutation_p.L124Q|MATN2_ENST00000254898.5_Missense_Mutation_p.L408Q|MATN2_ENST00000521689.1_Missense_Mutation_p.L408Q|MATN2_ENST00000524308.1_Missense_Mutation_p.L367Q			O00339	MATN2_HUMAN	matrilin 2	408	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TACTGTGCACTGAACAAACCG	0.597																																						uc003yic.2		NA																	0				ovary(2)	2						c.(1222-1224)CTG>CAG		matrilin 2 isoform a precursor							86.0	93.0	91.0					8																	99015907		2136	4262	6398	SO:0001583	missense	4147					proteinaceous extracellular matrix	calcium ion binding	g.chr8:99015907T>A	U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.1223T>A	8.37:g.99015907T>A	ENSP00000430487:p.Leu408Gln					MATN2_uc003yib.1_Missense_Mutation_p.L408Q|MATN2_uc010mbh.1_Missense_Mutation_p.L367Q|MATN2_uc003yid.2_Missense_Mutation_p.L408Q|MATN2_uc003yie.1_Missense_Mutation_p.L408Q|MATN2_uc010mbi.1_Missense_Mutation_p.L241Q	p.L408Q	NM_002380	NP_002371	O00339	MATN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.244)		8	1454	+	Breast(36;1.43e-06)		408			EGF-like 5.		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	ENST00000520016.1	37	c.1223T>A	CCDS55264.1	.	.	.	.	.	.	.	.	.	.	T	14.98	2.696077	0.48202	.	.	ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000522025;ENST00000520016;ENST00000522270	D;D;D;D;D;D	0.96522	-2.26;-2.26;-2.26;-1.73;-2.26;-4.04	5.52	4.34	0.51931	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.141190	0.32578	N	0.005907	D	0.96175	0.8753	L	0.43554	1.36	0.37170	D	0.902988	D;D;D;B	0.69078	0.996;0.997;0.996;0.032	D;D;D;B	0.72982	0.966;0.979;0.954;0.028	D	0.94814	0.7981	10	0.25751	T	0.34	-14.5528	9.5376	0.39231	0.0:0.0:0.1776:0.8224	.	408;408;408;408	E9PF03;O00339-2;O00339;Q8N2G3	.;.;MATN2_HUMAN;.	Q	408;408;367;367;124;408;112	ENSP00000429977:L408Q;ENSP00000254898:L408Q;ENSP00000430221:L367Q;ENSP00000429010:L124Q;ENSP00000430487:L408Q;ENSP00000429825:L112Q	ENSP00000254898:L408Q	L	+	2	0	MATN2	99085083	0.998000	0.40836	0.957000	0.39632	0.502000	0.33828	2.602000	0.46257	0.917000	0.36895	0.379000	0.24179	CTG		0.597	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			9	75	0	0	0	0	9	75				
CSMD3	114788	broad.mit.edu	37	8	113657362	113657362	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr8:113657362T>A	ENST00000297405.5	-	20	3530	c.3286A>T	c.(3286-3288)Act>Tct	p.T1096S	CSMD3_ENST00000455883.2_Missense_Mutation_p.T992S|CSMD3_ENST00000352409.3_Missense_Mutation_p.T1096S|CSMD3_ENST00000343508.3_Missense_Mutation_p.T1056S|MIR2053_ENST00000459295.1_RNA	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1096	CUB 6. {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						ACATCAACAGTCCATGTACAA	0.353										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.(3286-3288)ACT>TCT		CUB and Sushi multiple domains 3 isoform 1							95.0	95.0	95.0					8																	113657362		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113657362T>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.3286A>T	8.37:g.113657362T>A	ENSP00000297405:p.Thr1096Ser	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.T368S|CSMD3_uc003ynt.2_Missense_Mutation_p.T1056S|CSMD3_uc011lhx.1_Missense_Mutation_p.T992S	p.T1096S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			20	3445	-			1096			Extracellular (Potential).|CUB 6.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.3286A>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	18.29	3.591649	0.66219	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	5.78	5.78	0.91487	CUB (5);	0.073235	0.52532	D	0.000068	T	0.44644	0.1303	M	0.62723	1.935	0.41784	D	0.989837	P;P;P	0.52842	0.819;0.85;0.956	P;P;P	0.55222	0.452;0.588;0.771	T	0.26710	-1.0095	10	0.13853	T	0.58	.	16.4053	0.83662	0.0:0.0:0.0:1.0	.	992;1096;1056	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	S	1056;1096;436;992;1096	ENSP00000345799:T1056S;ENSP00000297405:T1096S;ENSP00000341558:T436S;ENSP00000412263:T992S;ENSP00000343124:T1096S	ENSP00000297405:T1096S	T	-	1	0	CSMD3	113726538	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	6.223000	0.72257	2.333000	0.79357	0.482000	0.46254	ACT		0.353	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		11	42	0	0	0	0	11	42				
KCNK9	51305	broad.mit.edu	37	8	140631071	140631071	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr8:140631071G>C	ENST00000520439.1	-	2	618	c.555C>G	c.(553-555)agC>agG	p.S185R	KCNK9_ENST00000523477.1_5'Flank|KCNK9_ENST00000303015.1_Missense_Mutation_p.S185R	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	185					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	CGTGGAAGAAGCTCCACTCCT	0.592																																						uc003yvf.1		NA																	0				ovary(2)|lung(1)	3						c.(553-555)AGC>AGG		potassium channel, subfamily K, member 9							97.0	92.0	93.0					8																	140631071		2203	4300	6503	SO:0001583	missense	51305					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	g.chr8:140631071G>C	AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.555C>G	8.37:g.140631071G>C	ENSP00000430676:p.Ser185Arg					KCNK9_uc003yvg.1_Missense_Mutation_p.S185R|KCNK9_uc003yve.1_RNA	p.S185R	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0855)		2	619	-	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	185			Extracellular (Potential).		Q2M290|Q540F2	Missense_Mutation	SNP	ENST00000520439.1	37	c.555C>G	CCDS6377.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.985444	0.53934	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	T;T;T	0.30448	1.53;1.53;1.53	5.85	2.68	0.31781	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	T	0.38957	0.1060	L	0.60012	1.86	0.53005	D	0.999961	P	0.36733	0.567	P	0.46419	0.516	T	0.33369	-0.9871	10	0.62326	D	0.03	.	11.667	0.51379	0.2265:0.0:0.7735:0.0	.	185	Q9NPC2	KCNK9_HUMAN	R	185	ENSP00000429847:S185R;ENSP00000302166:S185R;ENSP00000430676:S185R	ENSP00000302166:S185R	S	-	3	2	KCNK9	140700253	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.126000	0.42026	0.812000	0.34326	0.655000	0.94253	AGC		0.592	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378473.1	NM_016601		19	41	0	0	0	0	19	41				
DNAI1	27019	broad.mit.edu	37	9	34506628	34506628	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr9:34506628A>G	ENST00000242317.4	+	13	1238	c.1067A>G	c.(1066-1068)gAc>gGc	p.D356G		NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	356					cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		TGGGTAGATGACTTCATGAAG	0.607									Kartagener syndrome																													uc003zum.2		NA																	0					0						c.(1066-1068)GAC>GGC		dynein, axonemal, intermediate chain 1							57.0	50.0	53.0					9																	34506628		2203	4300	6503	SO:0001583	missense	27019	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity	g.chr9:34506628A>G	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"""Axonemal dyneins"", ""WD repeat domain containing"""	2954	protein-coding gene	gene with protein product		604366	"""dynein, axonemal, intermediate polypeptide 1"""			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.1067A>G	9.37:g.34506628A>G	ENSP00000242317:p.Asp356Gly						p.D356G	NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)	13	1260	+	all_epithelial(49;0.244)		356					B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Missense_Mutation	SNP	ENST00000242317.4	37	c.1067A>G	CCDS6557.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.444904	0.83993	.	.	ENSG00000122735	ENST00000242317	D	0.85411	-1.98	5.3	5.3	0.74995	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.054971	0.64402	D	0.000001	D	0.82976	0.5154	M	0.71206	2.165	0.80722	D	1	B	0.30114	0.269	B	0.26202	0.067	T	0.80810	-0.1216	10	0.33940	T	0.23	.	13.0054	0.58701	1.0:0.0:0.0:0.0	.	356	Q9UI46	DNAI1_HUMAN	G	356	ENSP00000242317:D356G	ENSP00000242317:D356G	D	+	2	0	DNAI1	34496628	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.725000	0.91468	2.007000	0.58848	0.460000	0.39030	GAC		0.607	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052192.1			10	58	0	0	0	0	10	58				
VCP	7415	broad.mit.edu	37	9	35060329	35060329	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr9:35060329A>C	ENST00000358901.6	-	13	2571	c.1676T>G	c.(1675-1677)gTc>gGc	p.V559G		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	559					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GATTTCTCTGACATTGGCCTC	0.458																																						uc003zvy.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(1675-1677)GTC>GGC		valosin-containing protein							56.0	53.0	54.0					9																	35060329		2203	4300	6503	SO:0001583	missense	7415				activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding	g.chr9:35060329A>C	AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"""ATPases / AAA-type"""	12666	protein-coding gene	gene with protein product		601023	"""valosin-containing protein"""			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.1676T>G	9.37:g.35060329A>C	ENSP00000351777:p.Val559Gly					VCP_uc003zvz.2_RNA|VCP_uc010mkh.1_Missense_Mutation_p.V228G|VCP_uc010mki.1_Missense_Mutation_p.V514G	p.V559G	NM_007126	NP_009057	P55072	TERA_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		13	2065	-			559					B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Missense_Mutation	SNP	ENST00000358901.6	37	c.1676T>G	CCDS6573.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.954697	0.92726	.	.	ENSG00000165280	ENST00000358901	D	0.94232	-3.38	5.85	5.85	0.93711	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.97952	0.9326	H	0.96970	3.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99346	1.0913	10	0.87932	D	0	-6.9297	16.2303	0.82332	1.0:0.0:0.0:0.0	.	559	P55072	TERA_HUMAN	G	559	ENSP00000351777:V559G	ENSP00000351777:V559G	V	-	2	0	VCP	35050329	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.233000	0.73108	0.533000	0.62120	GTC		0.458	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1	NM_007126		19	26	0	0	0	0	19	26				
SHB	6461	broad.mit.edu	37	9	38016101	38016101	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr9:38016101G>A	ENST00000377707.3	-	2	1310	c.745C>T	c.(745-747)Ccc>Tcc	p.P249S	SHB_ENST00000377700.4_Missense_Mutation_p.P249S|RP11-613M10.9_ENST00000540557.1_Missense_Mutation_p.P249S	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	249	Mediates interaction with LAT, PTK2/FAK1, JAK1 and JAK3.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		GCATCAAAGGGATCTGAGTAG	0.502																																						uc004aax.2		NA																	0				central_nervous_system(2)|skin(1)	3						c.(745-747)CCC>TCC		Src homology 2 domain containing adaptor protein							139.0	137.0	138.0					9																	38016101		1997	4179	6176	SO:0001583	missense	6461				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity	g.chr9:38016101G>A		CCDS43806.1	9p13.2	2013-09-23	2005-05-24		ENSG00000107338	ENSG00000107338		"""SH2 domain containing"""	10838	protein-coding gene	gene with protein product		600314	"""SHB adaptor protein (a Src homology 2 protein)"", ""SHB (Src homology 2 domain containing) adaptor protein B"""			7713524	Standard	NM_003028		Approved		uc004aax.3	Q15464	OTTHUMG00000019936	ENST00000377707.3:c.745C>T	9.37:g.38016101G>A	ENSP00000366936:p.Pro249Ser						p.P249S	NM_003028	NP_003019	Q15464	SHB_HUMAN		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)	2	1313	-		all_epithelial(88;0.122)	249			Mediates interaction with LAT, FAK1, JAK1 and JAK3.		B9EGM0|D3DRQ5|Q504U5|Q5VUM8	Missense_Mutation	SNP	ENST00000377707.3	37	c.745C>T	CCDS43806.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.578247	0.86645	.	.	ENSG00000107338	ENST00000377707;ENST00000377700	T	0.28255	1.62	5.86	5.86	0.93980	.	0.253711	0.25695	N	0.028920	T	0.55768	0.1941	M	0.66439	2.03	0.46586	D	0.999119	D	0.63880	0.993	D	0.72982	0.979	T	0.55398	-0.8147	10	0.87932	D	0	-20.7335	17.6814	0.88245	0.0:0.0:1.0:0.0	.	249	Q15464	SHB_HUMAN	S	249	ENSP00000366936:P249S	ENSP00000366929:P249S	P	-	1	0	SHB	38006101	1.000000	0.71417	0.996000	0.52242	0.942000	0.58702	6.978000	0.76147	2.765000	0.95021	0.655000	0.94253	CCC		0.502	SHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052490.1			40	73	0	0	0	0	40	73				
TMEM2	23670	broad.mit.edu	37	9	74319658	74319658	+	Missense_Mutation	SNP	G	G	A	rs375145196		TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr9:74319658G>A	ENST00000377044.4	-	18	3586	c.3047C>T	c.(3046-3048)cCg>cTg	p.P1016L	TMEM2_ENST00000377066.5_Missense_Mutation_p.P953L|TMEM2_ENST00000396272.3_Missense_Mutation_p.P9L	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1016					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AGGGTTGGACGGATACTCATC	0.438																																						uc011lsa.1		NA																	0				ovary(2)	2						c.(3046-3048)CCG>CTG		transmembrane protein 2 isoform a		G	LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	131.0	107.0	115.0		2858,3047	5.7	0.7	9		115	0,8600		0,0,4300	no	missense,missense	TMEM2	NM_001135820.1,NM_013390.2	98,98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	953/1321,1016/1384	74319658	1,13005	2203	4300	6503	SO:0001583	missense	23670					integral to membrane		g.chr9:74319658G>A		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.3047C>T	9.37:g.74319658G>A	ENSP00000366243:p.Pro1016Leu					TMEM2_uc011lrz.1_Missense_Mutation_p.P9L|TMEM2_uc010mos.2_Missense_Mutation_p.P953L|TMEM2_uc011lsb.1_RNA	p.P1016L	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	18	3587	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	1016					A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.3047C>T	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.290528	0.80914	2.27E-4	0.0	ENSG00000135048	ENST00000377044;ENST00000377066;ENST00000396272;ENST00000377055;ENST00000377043	T;T;T;T;T	0.75477	-0.94;-0.86;2.22;1.26;0.7	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.85932	0.5812	M	0.83953	2.67	0.80722	D	1	D;D	0.63046	0.987;0.992	P;P	0.58660	0.701;0.843	D	0.85992	0.1489	10	0.48119	T	0.1	.	19.8729	0.96856	0.0:0.0:1.0:0.0	.	1016;953	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	L	1016;953;9;45;117	ENSP00000366243:P1016L;ENSP00000366266:P953L;ENSP00000379569:P9L;ENSP00000366254:P45L;ENSP00000366242:P117L	ENSP00000366242:P117L	P	-	2	0	TMEM2	73509478	1.000000	0.71417	0.678000	0.29963	0.442000	0.32017	6.446000	0.73460	2.699000	0.92147	0.561000	0.74099	CCG		0.438	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		20	28	0	0	0	0	20	28				
SPATA31C1	441452	broad.mit.edu	37	9	90538237	90538237	+	RNA	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr9:90538237G>A	ENST00000602681.1	+	0	1927							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											ACAAATCAGAGATCAGCAGCC	0.527																																						uc010mqi.2		NA																	0					0						c.(3415-3417)GAT>AAT		family with sequence similarity 75, member C1							165.0	130.0	141.0					9																	90538237		692	1590	2282			441452							g.chr9:90538237G>A	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90538237G>A						FAM75C1_uc004apq.3_Missense_Mutation_p.D1122N	p.D1139N	NM_001145124	NP_001138596					4	3444	+									Missense_Mutation	SNP	ENST00000602681.1	37	c.3415G>A																																																																																					0.527	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		51	190	0	0	0	0	51	190				
ERCC6L2	375748	broad.mit.edu	37	9	98678056	98678056	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr9:98678056C>T	ENST00000288985.7	+	5	1233	c.928C>T	c.(928-930)Ctc>Ttc	p.L310F	ERCC6L2_ENST00000437817.1_Missense_Mutation_p.L121F|ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	310	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										CCGCATTGGCCTCACTGGAAC	0.383																																						uc004avt.3		NA																	0					0						c.(928-930)CTC>TTC		RAD26L hypothetical protein							96.0	91.0	93.0					9																	98678056		2203	4300	6503	SO:0001583	missense	375748				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding	g.chr9:98678056C>T	BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"""chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"""	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.928C>T	9.37:g.98678056C>T	ENSP00000288985:p.Leu310Phe					C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_Missense_Mutation_p.L12F|C9orf102_uc010mry.1_Missense_Mutation_p.L12F|C9orf102_uc010mrz.2_Missense_Mutation_p.L121F	p.L310F	NM_001010895	NP_001010895	Q5T890	RAD26_HUMAN			5	1316	+		Acute lymphoblastic leukemia(62;0.0559)	310			Helicase ATP-binding.		A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Missense_Mutation	SNP	ENST00000288985.7	37	c.928C>T	CCDS35072.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308898	0.81247	.	.	ENSG00000182150	ENST00000288985;ENST00000437817	D;D	0.96200	-3.94;-3.94	5.96	5.06	0.68205	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.47852	D	0.000215	D	0.98535	0.9511	H	0.97732	4.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98920	1.0783	10	0.87932	D	0	-10.9548	14.5954	0.68400	0.0:0.9305:0.0:0.0695	.	121;310	Q5T890-2;Q5T890	.;RAD26_HUMAN	F	310;121	ENSP00000288985:L310F;ENSP00000416286:L121F	ENSP00000288985:L310F	L	+	1	0	C9orf102	97717877	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.132000	0.64758	2.826000	0.97356	0.655000	0.94253	CTC		0.383	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053247.2	NM_001010895		12	36	0	0	0	0	12	36				
ACTL7B	10880	broad.mit.edu	37	9	111617533	111617533	+	Silent	SNP	C	C	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr9:111617533C>T	ENST00000374667.3	-	1	1706	c.678G>A	c.(676-678)ggG>ggA	p.G226G		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	226						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TGAGGTCACCCCCAGCGTAGT	0.647																																						uc004bdi.2		NA																	0				pancreas(1)	1						c.(676-678)GGG>GGA		actin-like 7B							58.0	46.0	50.0					9																	111617533		2203	4300	6503	SO:0001819	synonymous_variant	10880					actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	g.chr9:111617533C>T	BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.678G>A	9.37:g.111617533C>T							p.G226G	NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN			1	743	-			226					B2R9Q2|Q5JSV1	Silent	SNP	ENST00000374667.3	37	c.678G>A	CCDS6771.1																																																																																				0.647	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1	NM_006686		13	47	0	0	0	0	13	47				
SVEP1	79987	broad.mit.edu	37	9	113169571	113169571	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr9:113169571C>A	ENST00000401783.2	-	38	8645	c.8309G>T	c.(8308-8310)tGt>tTt	p.C2770F	SVEP1_ENST00000374469.1_Missense_Mutation_p.C2747F|SVEP1_ENST00000297826.5_Missense_Mutation_p.C696F	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2770	Sushi 22. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AATGGCTTCACAGCGTGGGGA	0.468																																						uc010mtz.2		NA																	0				ovary(7)	7						c.(8308-8310)TGT>TTT		polydom							96.0	96.0	96.0					9																	113169571		2013	4186	6199	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113169571C>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.8309G>T	9.37:g.113169571C>A	ENSP00000384917:p.Cys2770Phe					SVEP1_uc010mty.2_Missense_Mutation_p.C696F	p.C2770F	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			38	8646	-			2770			Sushi 22.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.8309G>T	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344646	0.61073	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826;ENST00000374463	D;D;D	0.99784	-6.74;-6.74;-6.74	5.47	5.47	0.80525	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.99889	0.9947	H	0.98089	4.145	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96466	0.9345	10	0.87932	D	0	.	19.6762	0.95934	0.0:1.0:0.0:0.0	.	2770	Q4LDE5	SVEP1_HUMAN	F	2770;2747;696;442	ENSP00000384917:C2770F;ENSP00000363593:C2747F;ENSP00000297826:C696F	ENSP00000297826:C696F	C	-	2	0	SVEP1	112209392	1.000000	0.71417	0.950000	0.38849	0.908000	0.53690	7.624000	0.83124	2.729000	0.93468	0.591000	0.81541	TGT		0.468	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				9	106	1	0	2.18e-05	2.48e-05	9	106				
C9orf171	389799	broad.mit.edu	37	9	135447890	135447890	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr9:135447890A>C	ENST00000343036.2	+	7	1004	c.956A>C	c.(955-957)cAc>cCc	p.H319P	C9orf171_ENST00000393216.2_Missense_Mutation_p.H283P	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	319										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						AACTACACCCACCCCTAGCCC	0.597																																						uc004cbn.2		NA																	0				ovary(4)|large_intestine(1)	5						c.(955-957)CAC>CCC		hypothetical protein LOC389799																																				SO:0001583	missense	389799							g.chr9:135447890A>C	AK128819	CCDS6949.1, CCDS65167.1	9q34.13	2012-04-03			ENSG00000188523	ENSG00000188523			33776	protein-coding gene	gene with protein product							Standard	NM_207417		Approved	FLJ46082	uc004cbn.3	Q6ZQR2	OTTHUMG00000131684	ENST00000343036.2:c.956A>C	9.37:g.135447890A>C	ENSP00000343290:p.His319Pro					C9orf171_uc004cbo.2_Missense_Mutation_p.H283P	p.H319P	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN			7	1004	+			319					Q147X1	Missense_Mutation	SNP	ENST00000343036.2	37	c.956A>C	CCDS6949.1	.	.	.	.	.	.	.	.	.	.	A	16.67	3.187873	0.57909	.	.	ENSG00000188523	ENST00000343036;ENST00000393216	T;T	0.24538	1.87;1.85	5.4	4.19	0.49359	.	0.558849	0.17096	N	0.187177	T	0.27967	0.0689	N	0.19112	0.55	0.27154	N	0.961336	D;D	0.64830	0.962;0.994	P;P	0.59889	0.605;0.865	T	0.03910	-1.0993	10	0.42905	T	0.14	.	8.7175	0.34421	0.808:0.192:0.0:0.0	.	283;319	Q6ZQR2-2;Q6ZQR2	.;CI171_HUMAN	P	319;283	ENSP00000343290:H319P;ENSP00000376909:H283P	ENSP00000343290:H319P	H	+	2	0	C9orf171	134437711	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	2.954000	0.49113	2.060000	0.61445	0.363000	0.22086	CAC		0.597	C9orf171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254589.1	NM_207417		6	18	0	0	0	0	6	18				
KDM6A	7403	broad.mit.edu	37	X	44942704	44942704	+	Splice_Site	SNP	G	G	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chrX:44942704G>A	ENST00000377967.4	+	23	3325		c.e23-1		KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A						canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TTTTATTGCAGGTGGAAGTTG	0.393			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	uc004dge.3		NA		Rec	yes		X	Xp11.2	7403	D|N|F|S	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			renal|oesophageal SCC|MM		6	Whole gene deletion(6)		oesophagus(2)|breast(2)|pancreas(2)	kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						c.e23-1		ubiquitously transcribed tetratricopeptide							115.0	89.0	98.0					X																	44942704		2203	4300	6503	SO:0001630	splice_region_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44942704G>A	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.3285-1G>A	X.37:g.44942704G>A						KDM6A_uc011mkz.1_Splice_Site_p.K1147_splice|KDM6A_uc011mla.1_Splice_Site_p.K1050_splice|KDM6A_uc011mlb.1_Splice_Site_p.K1102_splice|KDM6A_uc011mlc.1_Splice_Site_p.K799_splice|KDM6A_uc011mld.1_Splice_Site_p.K734_splice	p.K1095_splice	NM_021140	NP_066963	O15550	KDM6A_HUMAN			23	3660	+								Q52LL9|Q5JVQ7	Splice_Site	SNP	ENST00000377967.4	37	c.3285_splice	CCDS14265.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083976	0.76642	.	.	ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000414389;ENST00000433797	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9693	0.71220	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KDM6A	44827648	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.379000	0.97198	2.175000	0.68902	0.583000	0.79449	.		0.393	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140	Intron	8	2	0	0	0	0	8	2				
TAF1	6872	broad.mit.edu	37	X	70674608	70674608	+	Silent	SNP	T	T	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chrX:70674608T>C	ENST00000373790.4	+	34	4887	c.4836T>C	c.(4834-4836)acT>acC	p.T1612T	TAF1_ENST00000276072.3_Silent_p.T1633T|TAF1_ENST00000423759.1_Silent_p.T1633T|TAF1_ENST00000461764.1_3'UTR|TAF1_ENST00000449580.1_Silent_p.T1612T	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1612	Interaction with ASF1A and ASF1B.|Protein kinase 2.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				AACATTTGACTCAACTTGAGA	0.378																																						uc004dzu.3		NA																	0				ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17						c.(4834-4836)ACT>ACC		TBP-associated factor 1 isoform 2							68.0	60.0	63.0					X																	70674608		2203	4300	6503	SO:0001819	synonymous_variant	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70674608T>C		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.4836T>C	X.37:g.70674608T>C						BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Silent_p.T1633T|TAF1_uc004dzv.3_Silent_p.T786T|TAF1_uc010nld.1_RNA|TAF1_uc010nle.1_RNA|TAF1_uc010nlf.1_Silent_p.T37T|TAF1_uc004dzx.2_RNA|TAF1_uc004dzy.2_RNA|TAF1_uc004dzw.1_RNA	p.T1612T	NM_138923	NP_620278	P21675	TAF1_HUMAN			34	4887	+	Renal(35;0.156)	all_lung(315;0.000321)	1612			Interaction with ASF1A and ASF1B.|Protein kinase 2.		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Silent	SNP	ENST00000373790.4	37	c.4836T>C	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	T	7.636	0.679791	0.14907	.	.	ENSG00000147133	ENST00000437147	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	T	0.49457	0.1558	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49934	-0.8886	4	.	.	.	.	4.886	0.13703	0.1672:0.0872:0.0:0.7456	.	.	.	.	P	267	.	.	L	+	2	0	TAF1	70591333	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	0.554000	0.23407	1.859000	0.53934	0.417000	0.27973	CTC		0.378	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		13	3	0	0	0	0	13	3				
ARMCX5	64860	broad.mit.edu	37	X	101857289	101857289	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chrX:101857289A>T	ENST00000604957.1	+	1	2842	c.220A>T	c.(220-222)Aca>Tca	p.T74S	ARMCX5_ENST00000537008.1_Missense_Mutation_p.T74S|ARMCX5_ENST00000541409.1_Missense_Mutation_p.T74S|ARMCX5_ENST00000536530.1_Missense_Mutation_p.T74S|ARMCX5_ENST00000372742.1_Missense_Mutation_p.T74S|ARMCX5_ENST00000246174.2_Missense_Mutation_p.T74S|RP4-769N13.7_ENST00000602441.1_RNA|RP4-769N13.6_ENST00000476910.2_RNA	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	74										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						TATGGCTGTGACAAGGGAAGT	0.483																																						uc004ejg.2		NA																	0				ovary(1)	1						c.(220-222)ACA>TCA		armadillo repeat containing, X-linked 5							154.0	106.0	122.0					X																	101857289		2203	4300	6503	SO:0001583	missense	64860						binding	g.chrX:101857289A>T		CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"""Armadillo repeat containing"""	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.220A>T	X.37:g.101857289A>T	ENSP00000474720:p.Thr74Ser					ARMCX5_uc004ejh.2_Missense_Mutation_p.T74S	p.T74S	NM_022838	NP_073749	Q6P1M9	ARMX5_HUMAN			6	1101	+			74					B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Missense_Mutation	SNP	ENST00000604957.1	37	c.220A>T	CCDS14500.1	.	.	.	.	.	.	.	.	.	.	A	11.50	1.656137	0.29425	.	.	ENSG00000125962	ENST00000246174;ENST00000537008;ENST00000541409;ENST00000536530;ENST00000372742	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	3.6	1.23	0.21249	.	0.219298	0.24094	N	0.041609	T	0.13670	0.0331	N	0.19112	0.55	0.09310	N	1	B	0.30068	0.267	B	0.24541	0.054	T	0.23691	-1.0181	10	0.15952	T	0.53	0.0314	5.4952	0.16799	0.6029:0.0:0.3971:0.0	.	74	Q6P1M9	ARMX5_HUMAN	S	74	ENSP00000246174:T74S;ENSP00000439001:T74S;ENSP00000446385:T74S;ENSP00000445851:T74S;ENSP00000361827:T74S	ENSP00000246174:T74S	T	+	1	0	ARMCX5	101743945	0.153000	0.22777	0.005000	0.12908	0.298000	0.27526	1.406000	0.34646	0.145000	0.18977	0.486000	0.48141	ACA		0.483	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469659.1	NM_022838		26	25	0	0	0	0	26	25				
COL4A6	1288	broad.mit.edu	37	X	107413937	107413937	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chrX:107413937C>G	ENST00000372216.4	-	35	3498	c.3398G>C	c.(3397-3399)gGa>gCa	p.G1133A	COL4A6_ENST00000545689.1_Missense_Mutation_p.G1132A|COL4A6_ENST00000334504.7_Missense_Mutation_p.G1132A|COL4A6_ENST00000394872.2_Missense_Mutation_p.G1133A|COL4A6_ENST00000538570.1_Missense_Mutation_p.G1132A	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1133	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GCCGGCAACTCCTGGAAATCC	0.493									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	uc004enw.3		NA																	0				ovary(6)|urinary_tract(1)|large_intestine(1)	8						c.(3397-3399)GGA>GCA		type IV alpha 6 collagen isoform A precursor							117.0	119.0	119.0					X																	107413937		2203	4300	6503	SO:0001583	missense	1288	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107413937C>G	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.3398G>C	X.37:g.107413937C>G	ENSP00000361290:p.Gly1133Ala					COL4A6_uc004env.3_Missense_Mutation_p.G1132A|COL4A6_uc011msn.1_Missense_Mutation_p.G1132A|COL4A6_uc010npk.2_Missense_Mutation_p.G1132A	p.G1133A	NM_001847	NP_001838	Q14031	CO4A6_HUMAN			35	3501	-			1133			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	c.3398G>C	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.484163	0.26598	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.99329	-5.75;-5.75;-5.75;-5.5;-5.5	5.08	5.08	0.68730	.	0.000000	0.42964	D	0.000632	D	0.99399	0.9788	M	0.83223	2.63	0.46542	D	0.999093	D;D;D;D	0.89917	0.997;1.0;0.998;0.997	D;D;D;D	0.76575	0.941;0.988;0.965;0.941	D	0.98869	1.0765	10	0.66056	D	0.02	.	17.1207	0.86701	0.0:1.0:0.0:0.0	.	1132;1132;1133;1132	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	A	1133;1132;1133;1132;1132;1132	ENSP00000361290:G1133A;ENSP00000334733:G1132A;ENSP00000378340:G1133A;ENSP00000443707:G1132A;ENSP00000445236:G1132A	ENSP00000334733:G1132A	G	-	2	0	COL4A6	107300593	0.890000	0.30428	0.078000	0.20375	0.002000	0.02628	3.989000	0.56958	2.450000	0.82876	0.600000	0.82982	GGA		0.493	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			21	78	0	0	0	0	21	78				
GLUD2	2747	broad.mit.edu	37	X	120182629	120182629	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chrX:120182629C>A	ENST00000328078.1	+	1	1168	c.1091C>A	c.(1090-1092)gCa>gAa	p.A364E		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	364					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						TTCCCCAAGGCAAAGCCCTAT	0.493																																						uc004eto.2		NA																	0				pancreas(1)	1						c.(1090-1092)GCA>GAA		glutamate dehydrogenase 2 precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						185.0	168.0	174.0					X																	120182629		2203	4300	6503	SO:0001583	missense	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120182629C>A	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.1091C>A	X.37:g.120182629C>A	ENSP00000327589:p.Ala364Glu						p.A364E	NM_012084	NP_036216	P49448	DHE4_HUMAN			1	1168	+			364					B2R8G0|Q9UDQ4	Missense_Mutation	SNP	ENST00000328078.1	37	c.1091C>A	CCDS14603.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.667918	0.47677	.	.	ENSG00000182890	ENST00000328078	D	0.95272	-3.66	1.61	0.725	0.18242	Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal (2);NAD(P)-binding domain (1);	0.049501	0.85682	D	0.000000	D	0.97291	0.9114	H	0.95328	3.655	0.58432	D	0.999997	D	0.76494	0.999	D	0.74023	0.982	D	0.95374	0.8467	10	0.87932	D	0	-22.5779	7.0444	0.25038	0.0:0.8265:0.0:0.1735	.	364	P49448	DHE4_HUMAN	E	364	ENSP00000327589:A364E	ENSP00000327589:A364E	A	+	2	0	GLUD2	120010310	0.919000	0.31177	0.919000	0.36401	0.888000	0.51559	3.751000	0.55165	0.088000	0.17205	-0.883000	0.02948	GCA		0.493	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		85	33	1	0	1.35e-34	1.76e-34	85	33				
CELSR2	1952	broad.mit.edu	37	1	109795741	109795743	+	In_Frame_Del	DEL	CTT	CTT	-	rs115856488	byFrequency	TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:109795741_109795743delCTT	ENST00000271332.3	+	1	3101_3103	c.3040_3042delCTT	c.(3040-3042)cttdel	p.L1014del		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1014	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CGTCCGCCTCCTTGACCGCAATG	0.581																																					NSCLC(158;1285 2011 34800 34852 42084)	uc001dxa.3		NA																	0				ovary(4)|lung(3)|skin(1)	8						c.(3040-3042)CTTdel		cadherin EGF LAG seven-pass G-type receptor 2																																				SO:0001651	inframe_deletion	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109795741_109795743delCTT	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.3040_3042delCTT	1.37:g.109795741_109795743delCTT	ENSP00000271332:p.Leu1014del						p.L1014del	NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	3101_3103	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1014			Extracellular (Potential).|Cadherin 8.		Q5T2Y7|Q92566	In_Frame_Del	DEL	ENST00000271332.3	37	c.3040_3042delCTT	CCDS796.1																																																																																				0.581	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		27	73	NA	NA	NA	NA	27	73	---	---	---	---
CEPT1	10390	broad.mit.edu	37	1	111726202	111726203	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:111726202_111726203delTT	ENST00000545121.1	+	8	1332_1333	c.1124_1125delTT	c.(1123-1125)attfs	p.I375fs	RP5-1180E21.4_ENST00000607951.1_RNA|CEPT1_ENST00000467362.1_3'UTR|RP5-1180E21.5_ENST00000610049.1_RNA|CEPT1_ENST00000357172.4_Frame_Shift_Del_p.I375fs	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1	375					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	diacylglycerol cholinephosphotransferase activity (GO:0004142)|ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	GTACTTTGGATTGCCCTGGTAA	0.361																																						uc001eah.1		NA																	0					0						c.(1123-1125)ATTfs		choline/ethanolaminephosphotransferase	Choline(DB00122)																																			SO:0001589	frameshift_variant	10390					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding	g.chr1:111726202_111726203delTT	AF068302	CCDS830.1	1p13	2010-07-08			ENSG00000134255	ENSG00000134255	2.7.8.1, 2.7.8.2		24289	protein-coding gene	gene with protein product						10191259, 12216837	Standard	XM_005270353		Approved		uc001eah.1	Q9Y6K0	OTTHUMG00000012357	ENST00000545121.1:c.1124_1125delTT	1.37:g.111726202_111726203delTT	ENSP00000441980:p.Ile375fs					CEPT1_uc001eai.1_Frame_Shift_Del_p.I375fs|CEPT1_uc001eaj.1_Frame_Shift_Del_p.I375fs|CEPT1_uc009wfz.1_Frame_Shift_Del_p.I109fs	p.I375fs	NM_001007794	NP_001007795	Q9Y6K0	CEPT1_HUMAN		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	8	1332_1333	+		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)	375			Helical; (Potential).		Q69YJ9|Q9P0Y8	Frame_Shift_Del	DEL	ENST00000545121.1	37	c.1124_1125delTT	CCDS830.1																																																																																				0.361	CEPT1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034462.2	NM_006090		25	78	NA	NA	NA	NA	25	78	---	---	---	---
TNR	7143	broad.mit.edu	37	1	175372692	175372692	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr1:175372692delC	ENST00000367674.2	-	4	1268	c.560delG	c.(559-561)ggcfs	p.G187fs	TNR_ENST00000263525.2_Frame_Shift_Del_p.G187fs			Q92752	TENR_HUMAN	tenascin R	187	Cys-rich.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GCAGATGCAGCCACAGGACTC	0.577																																						uc001gkp.1		NA																	0				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(559-561)GGCfs		tenascin R precursor							80.0	85.0	83.0					1																	175372692		2203	4299	6502	SO:0001589	frameshift_variant	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175372692delC	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.560delG	1.37:g.175372692delC	ENSP00000356646:p.Gly187fs					TNR_uc009wwu.1_Frame_Shift_Del_p.G187fs|TNR_uc010pmz.1_Frame_Shift_Del_p.G187fs	p.G187fs	NM_003285	NP_003276	Q92752	TENR_HUMAN			2	641	-	Renal(580;0.146)		187			Cys-rich.		C9J563|Q15568|Q5R3G0	Frame_Shift_Del	DEL	ENST00000367674.2	37	c.560delG	CCDS1318.1																																																																																				0.577	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		20	128	NA	NA	NA	NA	20	128	---	---	---	---
PEX16	9409	broad.mit.edu	37	11	45937775	45937776	+	Intron	INS	-	-	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr11:45937775_45937776insA	ENST00000378750.5	-	3	469				PEX16_ENST00000241041.3_Intron|PEX16_ENST00000532554.1_Intron|PEX16_ENST00000532681.1_Intron			Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16						ER-dependent peroxisome organization (GO:0032581)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome membrane (GO:0045046)|protein localization to endoplasmic reticulum (GO:0070972)|protein targeting to peroxisome (GO:0006625)|protein to membrane docking (GO:0022615)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		GCAGAATTCTCACCACAGGCAA	0.52																																						uc001nbu.2		NA																	0				ovary(2)|skin(1)	3						c.e3+1		peroxisomal biogenesis factor 16 isoform 1																																				SO:0001627	intron_variant	9409				ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding	g.chr11:45937775_45937776insA	AF118240	CCDS7917.1, CCDS31472.1	11p	2007-12-14			ENSG00000121680	ENSG00000121680			8857	protein-coding gene	gene with protein product		603360				9922452	Standard	NM_057174		Approved		uc001nbt.3	Q9Y5Y5	OTTHUMG00000167005	ENST00000378750.5:c.225+1->T	11.37:g.45937776_45937776dupA						PEX16_uc001nbt.2_Splice_Site_p.V75_splice	p.V75_splice	NM_004813	NP_004804	Q9Y5Y5	PEX16_HUMAN		GBM - Glioblastoma multiforme(35;0.223)	3	537	-								Q9BWB9	Splice_Site	INS	ENST00000378750.5	37	c.225_splice	CCDS31472.1																																																																																				0.520	PEX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392398.1	NM_057174		34	218	NA	NA	NA	NA	34	218	---	---	---	---
FRY	10129	broad.mit.edu	37	13	32798467	32798468	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr13:32798467_32798468insC	ENST00000380250.3	+	37	5357_5358	c.4861_4862insC	c.(4861-4863)gccfs	p.A1621fs		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1621						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AGGATGCTGGGCCCCCCTGGTT	0.569																																						uc001utx.2		NA																	0				ovary(5)|large_intestine(1)|skin(1)	7						c.(4861-4863)GCCfs		furry homolog																																				SO:0001589	frameshift_variant	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32798467_32798468insC	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.4867dupC	13.37:g.32798473_32798473dupC	ENSP00000369600:p.Ala1621fs					FRY_uc010tdw.1_RNA	p.A1621fs	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	37	5357_5358	+		Lung SC(185;0.0271)	1621					Q9Y3N6	Frame_Shift_Ins	INS	ENST00000380250.3	37	c.4861_4862insC	CCDS41875.1																																																																																				0.569	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		41	54	NA	NA	NA	NA	41	54	---	---	---	---
RASA3	22821	broad.mit.edu	37	13	114839224	114839225	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr13:114839224_114839225insA	ENST00000334062.7	-	2	264_265	c.143_144insT	c.(142-144)ttcfs	p.F48fs	RASA3_ENST00000542651.1_Frame_Shift_Ins_p.F48fs|RASA3_ENST00000389544.4_Frame_Shift_Ins_p.F16fs	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	48	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TTTTGGTCCTGAAAACCTCCTC	0.465																																						uc001vui.2		NA																	0				lung(3)|skin(1)	4						c.(142-144)TTCfs		RAS p21 protein activator 3																																				SO:0001589	frameshift_variant	22821				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity	g.chr13:114839224_114839225insA		CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"""Pleckstrin homology (PH) domain containing"""	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.144dupT	13.37:g.114839228_114839228dupA	ENSP00000335029:p.Phe48fs					RASA3_uc010tkk.1_Frame_Shift_Ins_p.F16fs|RASA3_uc001vuj.2_5'UTR|RASA3_uc010tkl.1_RNA	p.F48fs	NM_007368	NP_031394	Q14644	RASA3_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.128)		2	274_275	-	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	48			C2 1.		A6NL15|F8W6X8|Q8IUY2	Frame_Shift_Ins	INS	ENST00000334062.7	37	c.143_144insT	CCDS32016.1																																																																																				0.465	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045957.2	NM_007368		28	82	NA	NA	NA	NA	28	82	---	---	---	---
SPG11	80208	broad.mit.edu	37	15	44941194	44941195	+	Frame_Shift_Del	DEL	AG	AG	-	rs312262727		TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr15:44941194_44941195delAG	ENST00000261866.7	-	7	1487_1488	c.1471_1472delCT	c.(1471-1473)ctgfs	p.L491fs	SPG11_ENST00000558319.1_Frame_Shift_Del_p.L491fs|SPG11_ENST00000559193.1_Frame_Shift_Del_p.L491fs|SPG11_ENST00000535302.2_Frame_Shift_Del_p.L491fs|SPG11_ENST00000427534.2_Frame_Shift_Del_p.L491fs	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	491					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		AAACAAAATCAGAGAGAGTCCA	0.337																																						uc001ztx.2		NA																	0				ovary(4)|skin(1)	5	GRCh37	CD080903	SPG11	D		c.(1471-1473)CTGfs		spatacsin isoform 1																																				SO:0001589	frameshift_variant	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44941194_44941195delAG		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.1471_1472delCT	15.37:g.44941200_44941201delAG	ENSP00000261866:p.Leu491fs					SPG11_uc010ueh.1_Frame_Shift_Del_p.L491fs|SPG11_uc010uei.1_Frame_Shift_Del_p.L491fs|SPG11_uc001zua.1_Frame_Shift_Del_p.L491fs	p.L491fs	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	7	1502_1503	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	491			Extracellular (Potential).		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Frame_Shift_Del	DEL	ENST00000261866.7	37	c.1471_1472delCT	CCDS10112.1																																																																																				0.337	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			12	21	NA	NA	NA	NA	12	21	---	---	---	---
PDPK1	5170	broad.mit.edu	37	16	2611896	2611899	+	Frame_Shift_Del	DEL	CGAC	CGAC	-			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr16:2611896_2611899delCGAC	ENST00000342085.4	+	4	602_605	c.453_456delCGAC	c.(451-456)gacgacfs	p.DD151fs	RP11-20I23.8_ENST00000569852.1_RNA|PDPK1_ENST00000268673.7_Intron|PDPK1_ENST00000441549.3_Frame_Shift_Del_p.DD151fs|PDPK1_ENST00000389224.3_Frame_Shift_Del_p.DD124fs|PDPK1_ENST00000354836.5_Frame_Shift_Del_p.DD151fs	NM_002613.4	NP_002604.1	O15530	PDPK1_HUMAN	3-phosphoinositide dependent protein kinase 1	151	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway (GO:0097191)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|focal adhesion assembly (GO:0048041)|hyperosmotic response (GO:0006972)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of endothelial cell migration (GO:0010594)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of mast cell degranulation (GO:0043304)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	3-phosphoinositide-dependent protein kinase activity (GO:0004676)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7		Ovarian(90;0.17)			Celecoxib(DB00482)	CATTTCAGGACGACGAGAAGCTGT	0.52																																						uc002cqs.2		NA																	0				central_nervous_system(2)|ovary(1)	3	GRCh37	CD072462	PDPK1	D		c.(451-456)GACGACfs		3-phosphoinositide dependent protein kinase-1	Celecoxib(DB00482)																																			SO:0001589	frameshift_variant	5170				actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission|T cell costimulation|T cell receptor signaling pathway	cytosol|nucleoplasm|plasma membrane	3-phosphoinositide-dependent protein kinase activity|ATP binding	g.chr16:2611896_2611899delCGAC	AF017995	CCDS10472.1, CCDS10473.1, CCDS58411.1	16p13.3	2014-03-20	2014-03-20		ENSG00000140992	ENSG00000140992			8816	protein-coding gene	gene with protein product	"""PkB kinase"""	605213				9094314, 9445477	Standard	NM_002613		Approved	PDK1	uc002cqs.4	O15530	OTTHUMG00000128874	ENST00000342085.4:c.453_456delCGAC	16.37:g.2611896_2611899delCGAC	ENSP00000344220:p.Asp151fs					PDPK1_uc002cqt.2_Intron|PDPK1_uc010bsn.2_Frame_Shift_Del_p.D151fs|PDPK1_uc002cqu.2_Frame_Shift_Del_p.D124fs|PDPK1_uc002cqv.1_Frame_Shift_Del_p.D124fs|PDPK1_uc010uwe.1_3'UTR|uc010bsp.1_3'UTR	p.D151fs	NM_002613	NP_002604	O15530	PDPK1_HUMAN			4	597_600	+		Ovarian(90;0.17)	151_152			Protein kinase.		H0Y4Z0|Q59EH6|Q6FI20|Q8IV52|Q9BRD5	Frame_Shift_Del	DEL	ENST00000342085.4	37	c.453_456delCGAC	CCDS10472.1																																																																																				0.520	PDPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250831.3			2	4	NA	NA	NA	NA	2	4	---	---	---	---
G6PC	2538	broad.mit.edu	37	17	41056042	41056043	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr17:41056042_41056043delTG	ENST00000253801.2	+	2	404_405	c.325_326delTG	c.(325-327)tgtfs	p.C109fs	G6PC_ENST00000585489.1_Frame_Shift_Del_p.C109fs|G6PC_ENST00000592383.1_Frame_Shift_Del_p.C109fs	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	109				C -> R (in Ref. 2; BAG64735). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|hexose transport (GO:0008645)|multicellular organism growth (GO:0035264)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)|urate metabolic process (GO:0046415)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)|phosphate ion binding (GO:0042301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CCCTGTAACCTGTGAGACTGGA	0.515																																						uc002icb.1		NA																	0				ovary(1)|breast(1)|kidney(1)|skin(1)	4						c.(325-327)TGTfs		glucose-6-phosphatase, catalytic subunit																																				SO:0001589	frameshift_variant	2538	Glycogen_Storage_Disease_type_Ia			gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding	g.chr17:41056042_41056043delTG	U01120	CCDS11446.1, CCDS59291.1	17q21	2014-09-17	2006-06-28			ENSG00000131482	3.1.3.9		4056	protein-coding gene	gene with protein product	"""glycogen storage disease type I, von Gierke disease"""	613742	"""glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)"""	G6PT		7774924	Standard	NM_000151		Approved	GSD1a	uc002icb.2	P35575		ENST00000253801.2:c.325_326delTG	17.37:g.41056044_41056045delTG	ENSP00000253801:p.Cys109fs					G6PC_uc010whf.1_Frame_Shift_Del_p.C111fs	p.C109fs	NM_000151	NP_000142	P35575	G6PC_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	2	404_405	+		Breast(137;0.000143)	109			Lumenal (Potential).		A1L4C0|B4E1C3|K7EL82	Frame_Shift_Del	DEL	ENST00000253801.2	37	c.325_326delTG	CCDS11446.1																																																																																				0.515	G6PC-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452451.1	NM_000151		34	66	NA	NA	NA	NA	34	66	---	---	---	---
PAX1	5075	broad.mit.edu	37	20	21695398	21695398	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr20:21695398delT	ENST00000398485.2	+	5	1616	c.1562delT	c.(1561-1563)cttfs	p.L521fs	PAX1_ENST00000444366.2_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	521					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CCACACTTCCTTTATTGGTCT	0.637																																						uc002wsj.2		NA																	0				upper_aerodigestive_tract(1)|kidney(1)	2						c.(1561-1563)CTTfs		paired box 1							63.0	57.0	59.0					20																	21695398		2203	4300	6503	SO:0001589	frameshift_variant	5075				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr20:21695398delT		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.1562delT	20.37:g.21695398delT	ENSP00000381499:p.Leu521fs					PAX1_uc010zsl.1_3'UTR|PAX1_uc010zsm.1_3'UTR	p.L521fs	NM_006192	NP_006183	P15863	PAX1_HUMAN			5	1616	+			521					B4E0D6|Q642X9|Q6NTC0|Q9Y558	Frame_Shift_Del	DEL	ENST00000398485.2	37	c.1562delT	CCDS13146.2																																																																																				0.637	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3			15	44	NA	NA	NA	NA	15	44	---	---	---	---
RIPK4	54101	broad.mit.edu	37	21	43166897	43166898	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr21:43166897_43166898insA	ENST00000352483.2	-	5	771_772	c.707_708insT	c.(706-708)gtgfs	p.V236fs	RIPK4_ENST00000544709.1_Frame_Shift_Ins_p.V173fs|RIPK4_ENST00000332512.3_Frame_Shift_Ins_p.V236fs|RIPK4_ENST00000542057.1_Frame_Shift_Ins_p.V173fs			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	236	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGCCCTTCACCACCTTCACCAT	0.663																																						uc002yzn.1		NA																	0				ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(706-708)GTGfs		ankyrin repeat domain 3																																				SO:0001589	frameshift_variant	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43166897_43166898insA	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.708dupT	21.37:g.43166898_43166898dupA	ENSP00000330161:p.Val236fs						p.V236fs	NM_020639	NP_065690	P57078	RIPK4_HUMAN			5	755_756	-			236					Q96KH0	Frame_Shift_Ins	INS	ENST00000352483.2	37	c.707_708insT																																																																																					0.663	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		16	149	NA	NA	NA	NA	16	149	---	---	---	---
APEH	327	broad.mit.edu	37	3	49723322	49723327	+	IGR	DEL	GCGCTG	GCGCTG	-			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr3:49723322_49723327delGCGCTG	ENST00000296456.5	+	0	3220				MST1_ENST00000494828.2_5'Flank|MST1_ENST00000383728.3_3'UTR|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000449682.2_In_Frame_Del_p.QR406del	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGCGGACCAGCGCTGGCACTGGACA	0.704																																						uc003cxg.2		NA																	0				lung(1)	1						c.(1216-1221)CAGCGCdel		macrophage stimulating 1 (hepatocyte growth																																				SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723322_49723327delGCGCTG	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723322_49723327delGCGCTG						MST1_uc011bcs.1_In_Frame_Del_p.444_446ASA>A	p.QR406del	NM_020998	NP_066278	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	10	1288_1293	-			392_393			Kringle 4.		Q9BQ33|Q9P0Y2	In_Frame_Del	DEL	ENST00000296456.5	37	c.1216_1221delCAGCGC	CCDS2801.1																																																																																				0.704	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			8	103	NA	NA	NA	NA	8	103	---	---	---	---
POU4F2	5458	broad.mit.edu	37	4	147560457	147560458	+	In_Frame_Ins	INS	-	-	GGC	rs530695040|rs72269802|rs5862765		TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr4:147560457_147560458insGGC	ENST00000281321.3	+	1	413_414	c.165_166insGGC	c.(166-168)ggc>GGCggc	p.56_56G>GG	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	56	Poly-Gly.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					ACGCTggtggtggcggcggcgg	0.762																																						uc003ikv.2		NA																	0				breast(1)	1						c.(163-168)insGGC		Brn3b POU domain transcription factor																																				SO:0001652	inframe_insertion	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147560457_147560458insGGC	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.196_198dupGGC	4.37:g.147560464_147560466dupGGC	ENSP00000281321:p.Gly68dup						p.68_69insG	NM_004575	NP_004566	Q12837	PO4F2_HUMAN			1	413_414	+	all_hematologic(180;0.151)		68_69					B1PJR6|B2RC84|Q13883|Q14987	In_Frame_Ins	INS	ENST00000281321.3	37	c.165_166insGGC	CCDS34074.1																																																																																				0.762	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		8	11	NA	NA	NA	NA	8	11	---	---	---	---
CMBL	134147	broad.mit.edu	37	5	10286575	10286580	+	In_Frame_Del	DEL	TTGTTT	TTGTTT	-			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr5:10286575_10286580delTTGTTT	ENST00000296658.3	-	4	772_777	c.352_357delAAACAA	c.(352-357)aaacaadel	p.KQ118del	CMBL_ENST00000510532.1_5'UTR	NM_138809.3	NP_620164.1	Q96DG6	CMBL_HUMAN	carboxymethylenebutenolidase homolog (Pseudomonas)	118						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1)	13						CATGACACTGTTGTTTCAGATACTTC	0.422																																						uc003jes.2		NA																	0				skin(1)	1						c.(352-357)AAACAAdel		carboxymethylenebutenolidase																																				SO:0001651	inframe_deletion	134147					cytosol	hydrolase activity|protein binding	g.chr5:10286575_10286580delTTGTTT		CCDS3878.1	5p15.2	2010-06-25	2006-09-12		ENSG00000164237	ENSG00000164237	3.1.-.-		25090	protein-coding gene	gene with protein product		613379	"""carboxymethylenebutenolidase-like (Pseudomonas)"""			3804974, 20177059	Standard	NM_138809		Approved	FLJ23617	uc003jes.3	Q96DG6	OTTHUMG00000131043	ENST00000296658.3:c.352_357delAAACAA	5.37:g.10286575_10286580delTTGTTT	ENSP00000296658:p.Lys118_Gln119del						p.KQ118del	NM_138809	NP_620164	Q96DG6	CMBL_HUMAN			4	803_808	-			118_119					D3DTC7|Q8TED6	In_Frame_Del	DEL	ENST00000296658.3	37	c.352_357delAAACAA	CCDS3878.1																																																																																				0.422	CMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253689.1	NM_138809		7	31	NA	NA	NA	NA	7	31	---	---	---	---
NSD1	64324	broad.mit.edu	37	5	176638656	176638662	+	Frame_Shift_Del	DEL	AGTAAAG	AGTAAAG	-			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr5:176638656_176638662delAGTAAAG	ENST00000439151.2	+	5	3301_3307	c.3256_3262delAGTAAAG	c.(3256-3264)agtaaagagfs	p.SKE1086fs	NSD1_ENST00000361032.4_Frame_Shift_Del_p.SKE983fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.SKE817fs|NSD1_ENST00000347982.4_Frame_Shift_Del_p.SKE817fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1086					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AGAAGATCCTAGTAAAGAGGATCCCCT	0.449			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.3		NA		Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				ovary(2)|kidney(1)	3						c.(3256-3264)AGTAAAGAGfs		nuclear receptor binding SET domain protein 1																																				SO:0001589	frameshift_variant	64324	Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176638656_176638662delAGTAAAG	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.3256_3262delAGTAAAG	5.37:g.176638656_176638662delAGTAAAG	ENSP00000395929:p.Ser1086fs	HNSCC(47;0.14)				NSD1_uc003mft.3_Frame_Shift_Del_p.S817fs|NSD1_uc003mfs.1_Frame_Shift_Del_p.S983fs|NSD1_uc011dfx.1_Frame_Shift_Del_p.S734fs	p.S1086fs	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	5	3394_3400	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1086_1088					Q96PD8|Q96RN7	Frame_Shift_Del	DEL	ENST00000439151.2	37	c.3256_3262delAGTAAAG	CCDS4412.1																																																																																				0.449	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		66	24	NA	NA	NA	NA	66	24	---	---	---	---
TRPS1	7227	broad.mit.edu	37	8	116616583	116616584	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7253-01A-11D-2012-08	TCGA-CV-7253-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d501a7e5-70e7-4f80-851a-efe8859d603a	38151a65-170a-475a-8862-3e2ba2d158da	g.chr8:116616583_116616584insA	ENST00000220888.5	-	3	1732_1733	c.1573_1574insT	c.(1573-1575)tgtfs	p.C525fs	TRPS1_ENST00000395715.3_Frame_Shift_Ins_p.C538fs|TRPS1_ENST00000519674.1_Frame_Shift_Ins_p.C525fs|TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000520276.1_Frame_Shift_Ins_p.C529fs			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	525					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ACAGAACTGACAATTATAGCTC	0.46									Langer-Giedion syndrome																													uc003ynz.2		NA																	0				ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(1573-1575)TGTfs		zinc finger transcription factor TRPS1																																				SO:0001589	frameshift_variant	7227	Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116616583_116616584insA	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.1574dupT	8.37:g.116616585_116616585dupA	ENSP00000220888:p.Cys525fs					TRPS1_uc011lhy.1_Frame_Shift_Ins_p.C529fs|TRPS1_uc003yny.2_Frame_Shift_Ins_p.C538fs|TRPS1_uc010mcy.2_Frame_Shift_Ins_p.C525fs	p.C525fs	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		3	2032_2033	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		525					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Frame_Shift_Ins	INS	ENST00000220888.5	37	c.1573_1574insT																																																																																					0.460	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		130	65	NA	NA	NA	NA	130	65	---	---	---	---
